FMO3 - SNP - NCBI

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Select item 9095301.

rs909530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:171114034 (GRCh38)
1:171083174 (GRCh37)
Canonical SPDI:: NC_000001.11:171114033:C:A,NC_000001.11:171114033:C:T
Gene:: FMO3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.2492933/90836 (ALFA)
T=0.1714286/12 (PRJEB36033)
T=0.2247191/120 (MGP)
T=0.239232/922 (ALSPAC)
T=0.2478425/919 (TWINSUK)
T=0.2592593/56 (Qatari)
T=0.2604922/363494 (GnomAD_exomes)
T=0.2689076/160 (Vietnamese)
T=0.2715431/271 (GoNL)
T=0.2801339/1255 (Estonian)
T=0.2828947/86 (FINRISK)
T=0.289134/34810 (ExAC)
T=0.3/12 (GENOME_DK)
T=0.3074735/3999 (GoESP)
T=0.3139658/46774 (GnomAD_genomes)
T=0.3195777/666 (HGDP_Stanford)
T=0.321852/85191 (TOPMED)
T=0.3336661/1671 (1000Genomes)
T=0.3363523/2154 (1000Genomes_30X)
T=0.3416667/205 (NorthernSweden)
T=0.3483146/124 (PharmGKB)
T=0.3557082/673 (HapMap)
T=0.3751728/2714 (Korea4K)
C=0.375817/115 (SGDP_PRJ)
T=0.3805748/29952 (PAGE_STUDY)
T=0.3815502/699 (Korea1K)
T=0.3860068/1131 (KOREAN)
T=0.3888544/30109 (TOMMO)
T=0.4126582/326 (PRJEB37584)
C=0.4166667/10 (Siberian)
T=0.4265176/267 (Chileans)
HGVS:: NC_000001.11:g.171114034C>A, NC_000001.11:g.171114034C>T, NC_000001.10:g.171083174C>A, NC_000001.10:g.171083174C>T, NG_012690.2:g.28131C>A, NG_012690.2:g.28131C>T, NG_012690.1:g.28157C>A, NG_012690.1:g.28157C>T, NM_006894.6:c.855C>A, NM_006894.6:c.855C>T, NM_006894.5:c.855C>A, NM_006894.5:c.855C>T, NM_001002294.3:c.855C>A, NM_001002294.3:c.855C>T, NM_001002294.2:c.855C>A, NM_001002294.2:c.855C>T, NM_001319173.2:c.795C>A, NM_001319173.2:c.795C>T, NM_001319173.1:c.795C>A, NM_001319173.1:c.795C>T, NM_001319174.2:c.666C>A, NM_001319174.2:c.666C>T, NM_001319174.1:c.666C>A, NM_001319174.1:c.666C>T, XM_047416207.1:c.795C>A, XM_047416207.1:c.795C>T, NP_008825.4:p.Asn285Lys, NP_001002294.1:p.Asn285Lys, NP_001306102.1:p.Asn265Lys, NP_001306103.1:p.Asn222Lys, XP_047272163.1:p.Asn265Lys

PubMed

Select item 9095312.

rs909531 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:171114397 (GRCh38)
1:171083537 (GRCh37)
Canonical SPDI:: NC_000001.11:171114396:T:C
Gene:: FMO3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.1994056/13150 (ALFA)
C=0.1074766/23 (Vietnamese)
C=0.1179775/63 (MGP)
C=0.1282051/10 (PRJEB36033)
C=0.1296296/28 (Qatari)
C=0.1439539/300 (HGDP_Stanford)
C=0.1632096/299 (Korea1K)
C=0.1668942/489 (KOREAN)
C=0.1714128/1240 (Korea4K)
C=0.1932907/968 (1000Genomes)
C=0.1946785/236349 (GnomAD_exomes)
C=0.1948625/751 (ALSPAC)
C=0.1963323/728 (TWINSUK)
C=0.196655/15227 (TOMMO)
C=0.1976889/1266 (1000Genomes_30X)
C=0.2088446/17464 (ExAC)
C=0.2174349/217 (GoNL)
C=0.228526/431 (HapMap)
C=0.2298425/60837 (TOPMED)
C=0.2324836/34654 (GnomAD_genomes)
C=0.2334821/1046 (Estonian)
C=0.2407522/3124 (GoESP)
C=0.25/10 (GENOME_DK)
C=0.2733333/164 (NorthernSweden)
T=0.3869048/65 (SGDP_PRJ)
T=0.4/8 (Siberian)
HGVS:: NC_000001.11:g.171114397T>C, NC_000001.10:g.171083537T>C, NG_012690.2:g.28494T>C, NG_012690.1:g.28520T>C

PubMed

Select item 17365573.

rs1736557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:171110939 (GRCh38)
1:171080080 (GRCh37)
Canonical SPDI:: NC_000001.11:171110938:G:A,NC_000001.11:171110938:G:C
Gene:: FMO3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.073185/29401 (ALFA)
A=0.025/1 (GENOME_DK)
A=0.032258/2 (PRJEB36033)
A=0.052632/16 (FINRISK)
A=0.055804/250 (Estonian)
A=0.065503/9773 (GnomAD_genomes)
A=0.065854/17431 (TOPMED)
A=0.067134/67 (GoNL)
A=0.070288/44 (Chileans)
A=0.071354/275 (ALSPAC)
A=0.074973/278 (TWINSUK)
A=0.074992/5902 (PAGE_STUDY)
A=0.076779/41 (MGP)
A=0.080517/9769 (ExAC)
A=0.084038/159 (HapMap)
A=0.09213/590 (1000Genomes_30X)
A=0.09419/107 (Daghestan)
A=0.097644/489 (1000Genomes)
A=0.101667/61 (NorthernSweden)
A=0.112284/234 (HGDP_Stanford)
A=0.115741/25 (Qatari)
A=0.115819/41 (PharmGKB)
A=0.1552/12019 (TOMMO)
A=0.183959/539 (KOREAN)
A=0.191594/351 (Korea1K)
A=0.19436/1406 (Korea4K)
A=0.222403/137 (Vietnamese)
G=0.375/3 (Siberian)
G=0.48913/45 (SGDP_PRJ)
HGVS:: NC_000001.11:g.171110939G>A, NC_000001.11:g.171110939G>C, NC_000001.10:g.171080080G>A, NC_000001.10:g.171080080G>C, NG_012690.2:g.25036G>A, NG_012690.2:g.25036G>C, NG_012690.1:g.25063G>A, NG_012690.1:g.25063G>C, NM_006894.6:c.769G>A, NM_006894.6:c.769G>C, NM_006894.5:c.769G>A, NM_006894.5:c.769G>C, NM_001002294.3:c.769G>A, NM_001002294.3:c.769G>C, NM_001002294.2:c.769G>A, NM_001002294.2:c.769G>C, NM_001319173.2:c.709G>A, NM_001319173.2:c.709G>C, NM_001319173.1:c.709G>A, NM_001319173.1:c.709G>C, NM_001319174.2:c.580G>A, NM_001319174.2:c.580G>C, NM_001319174.1:c.580G>A, NM_001319174.1:c.580G>C, XM_047416207.1:c.709G>A, XM_047416207.1:c.709G>C, NP_008825.4:p.Val257Met, NP_008825.4:p.Val257Leu, NP_001002294.1:p.Val257Met, NP_001002294.1:p.Val257Leu, NP_001306102.1:p.Val237Met, NP_001306102.1:p.Val237Leu, NP_001306103.1:p.Val194Met, NP_001306103.1:p.Val194Leu, XP_047272163.1:p.Val237Met, XP_047272163.1:p.Val237Leu

PubMed

Select item 18008224.

rs1800822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:171107794 (GRCh38)
1:171076935 (GRCh37)
Canonical SPDI:: NC_000001.11:171107793:C:G,NC_000001.11:171107793:C:T
Gene:: FMO3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0663757/23585 (ALFA)
T=0.0394737/12 (FINRISK)
T=0.0474831/183 (ALSPAC)
T=0.0482143/216 (Estonian)
T=0.05/2 (GENOME_DK)
T=0.0544768/202 (TWINSUK)
T=0.0551102/55 (GoNL)
T=0.0646625/841 (GoESP)
T=0.0655431/35 (MGP)
T=0.0666667/40 (NorthernSweden)
T=0.073933/103588 (GnomAD_exomes)
T=0.0842109/12555 (GnomAD_genomes)
T=0.0870337/98 (Daghestan)
T=0.0945408/25024 (TOPMED)
T=0.1035941/196 (HapMap)
T=0.1077717/13074 (ExAC)
T=0.1342593/29 (Qatari)
T=0.1380883/10867 (PAGE_STUDY)
T=0.1399126/896 (1000Genomes_30X)
T=0.1405229/86 (Vietnamese)
T=0.1415735/709 (1000Genomes)
T=0.1536313/55 (PharmGKB)
T=0.2019628/15640 (TOMMO)
T=0.2235131/1616 (Korea4K)
T=0.2342896/686 (KOREAN)
T=0.2401747/440 (Korea1K)
T=0.2697201/212 (PRJEB37584)
C=0.4047619/68 (SGDP_PRJ)
C=0.5/2 (Siberian)
HGVS:: NC_000001.11:g.171107794C>G, NC_000001.11:g.171107794C>T, NC_000001.10:g.171076935C>G, NC_000001.10:g.171076935C>T, NG_012690.2:g.21891C>G, NG_012690.2:g.21891C>T, NG_012690.1:g.21918C>G, NG_012690.1:g.21918C>T, NM_006894.6:c.441C>G, NM_006894.6:c.441C>T, NM_006894.5:c.441C>G, NM_006894.5:c.441C>T, NM_001002294.3:c.441C>G, NM_001002294.3:c.441C>T, NM_001002294.2:c.441C>G, NM_001002294.2:c.441C>T, NM_001319173.2:c.381C>G, NM_001319173.2:c.381C>T, NM_001319173.1:c.381C>G, NM_001319173.1:c.381C>T, NM_001319174.2:c.252C>G, NM_001319174.2:c.252C>T, NM_001319174.1:c.252C>G, NM_001319174.1:c.252C>T, NG_082240.1:g.192C>G, NG_082240.1:g.192C>T, XM_047416207.1:c.381C>G, XM_047416207.1:c.381C>T

PubMed

Select item 19201495.

rs1920149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:171108057 (GRCh38)
1:171077198 (GRCh37)
Canonical SPDI:: NC_000001.11:171108056:G:A
Gene:: FMO3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.4762295/75490 (ALFA)
A=0.1535581/82 (MGP)
G=0.3104265/131 (SGDP_PRJ)
A=0.3110749/191 (Vietnamese)
G=0.375/12 (Siberian)
A=0.4109785/31827 (TOMMO)
A=0.418833/3029 (Korea4K)
A=0.4235808/776 (Korea1K)
A=0.4245734/1244 (KOREAN)
G=0.4247881/802 (HapMap)
A=0.45/18 (GENOME_DK)
G=0.4527145/119829 (TOPMED)
G=0.4535599/5899 (GoESP)
A=0.4539474/138 (FINRISK)
G=0.4565896/2924 (1000Genomes_30X)
G=0.460995/68644 (GnomAD_genomes)
G=0.4614617/2311 (1000Genomes)
A=0.4627832/1716 (TWINSUK)
A=0.4654904/1794 (ALSPAC)
G=0.4666667/280 (NorthernSweden)
G=0.4768519/103 (Qatari)
A=0.480695/672026 (GnomAD_exomes)
G=0.4814732/2157 (Estonian)
G=0.4849699/484 (GoNL)
G=0.4951497/60027 (ExAC)
HGVS:: NC_000001.11:g.171108057G>A, NC_000001.10:g.171077198G>A, NG_012690.2:g.22154G>A, NG_012690.1:g.22181G>A, NG_082240.1:g.455G>A

PubMed

Select item 20665306.

rs2066530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:171114009 (GRCh38)
1:171083149 (GRCh37)
Canonical SPDI:: NC_000001.11:171114008:T:C,NC_000001.11:171114008:T:G
Gene:: FMO3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0028484/985 (ALFA)
C=0./0 (ALSPAC)
C=0.0002697/1 (TWINSUK)
C=0.0012754/1756 (GnomAD_exomes)
C=0.0045651/536 (ExAC)
C=0.0092593/2 (Qatari)
C=0.0134291/86 (1000Genomes_30X)
C=0.013778/69 (1000Genomes)
C=0.0140449/5 (PharmGKB)
C=0.0145549/2166 (GnomAD_genomes)
C=0.0157354/4165 (TOPMED)
C=0.0161464/210 (GoESP)
C=0.0227687/25 (HapMap)
C=0.0234943/1849 (PAGE_STUDY)
T=0.5/3 (SGDP_PRJ)
HGVS:: NC_000001.11:g.171114009T>C, NC_000001.11:g.171114009T>G, NC_000001.10:g.171083149T>C, NC_000001.10:g.171083149T>G, NG_012690.2:g.28106T>C, NG_012690.2:g.28106T>G, NG_012690.1:g.28132T>C, NG_012690.1:g.28132T>G, NM_006894.6:c.830T>C, NM_006894.6:c.830T>G, NM_006894.5:c.830T>C, NM_006894.5:c.830T>G, NM_001002294.3:c.830T>C, NM_001002294.3:c.830T>G, NM_001002294.2:c.830T>C, NM_001002294.2:c.830T>G, NM_001319173.2:c.770T>C, NM_001319173.2:c.770T>G, NM_001319173.1:c.770T>C, NM_001319173.1:c.770T>G, NM_001319174.2:c.641T>C, NM_001319174.2:c.641T>G, NM_001319174.1:c.641T>C, NM_001319174.1:c.641T>G, XM_047416207.1:c.770T>C, XM_047416207.1:c.770T>G, NP_008825.4:p.Val277Ala, NP_008825.4:p.Val277Gly, NP_001002294.1:p.Val277Ala, NP_001002294.1:p.Val277Gly, NP_001306102.1:p.Val257Ala, NP_001306102.1:p.Val257Gly, NP_001306103.1:p.Val214Ala, NP_001306103.1:p.Val214Gly, XP_047272163.1:p.Val257Ala, XP_047272163.1:p.Val257Gly

PubMed

Select item 20665327.

rs2066532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:171114263 (GRCh38)
1:171083403 (GRCh37)
Canonical SPDI:: NC_000001.11:171114262:G:A,NC_000001.11:171114262:G:C
Gene:: FMO3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000653/72 (ALFA)
C=0.001393/168 (ExAC)
C=0.003049/1 (HapMap)
C=0.004008/598 (GnomAD_genomes)
C=0.004273/1131 (TOPMED)
C=0.004528/29 (1000Genomes_30X)
C=0.00463/1 (Qatari)
C=0.004792/24 (1000Genomes)
C=0.005682/2 (PharmGKB)
C=0.005767/75 (GoESP)
C=0.006328/498 (PAGE_STUDY)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.171114263G>A, NC_000001.11:g.171114263G>C, NC_000001.10:g.171083403G>A, NC_000001.10:g.171083403G>C, NG_012690.2:g.28360G>A, NG_012690.2:g.28360G>C, NG_012690.1:g.28386G>A, NG_012690.1:g.28386G>C, NM_006894.6:c.1084G>A, NM_006894.6:c.1084G>C, NM_006894.5:c.1084G>A, NM_006894.5:c.1084G>C, NM_001002294.3:c.1084G>A, NM_001002294.3:c.1084G>C, NM_001002294.2:c.1084G>A, NM_001002294.2:c.1084G>C, NM_001319173.2:c.1024G>A, NM_001319173.2:c.1024G>C, NM_001319173.1:c.1024G>A, NM_001319173.1:c.1024G>C, NM_001319174.2:c.895G>A, NM_001319174.2:c.895G>C, NM_001319174.1:c.895G>A, NM_001319174.1:c.895G>C, XM_047416207.1:c.1024G>A, XM_047416207.1:c.1024G>C, NP_008825.4:p.Glu362Lys, NP_008825.4:p.Glu362Gln, NP_001002294.1:p.Glu362Lys, NP_001002294.1:p.Glu362Gln, NP_001306102.1:p.Glu342Lys, NP_001306102.1:p.Glu342Gln, NP_001306103.1:p.Glu299Lys, NP_001306103.1:p.Glu299Gln, XP_047272163.1:p.Glu342Lys, XP_047272163.1:p.Glu342Gln

Select item 20665348.

rs2066534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:171108231 (GRCh38)
1:171077372 (GRCh37)
Canonical SPDI:: NC_000001.11:171108230:C:A,NC_000001.11:171108230:C:G,NC_000001.11:171108230:C:T
Gene:: FMO3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.170122/4645 (ALFA)
G=0.011364/7 (Vietnamese)
G=0.01228/951 (TOMMO)
G=0.021288/39 (Korea1K)
G=0.0235/170 (Korea4K)
G=0.024573/72 (KOREAN)
G=0.145714/51 (PharmGKB)
G=0.15/6 (GENOME_DK)
G=0.152439/50 (HapMap)
G=0.165563/50 (FINRISK)
G=0.191667/115 (NorthernSweden)
G=0.196629/105 (MGP)
G=0.198882/996 (1000Genomes)
G=0.201593/1291 (1000Genomes_30X)
G=0.211704/785 (TWINSUK)
G=0.218867/57932 (TOPMED)
G=0.221847/855 (ALSPAC)
G=0.231481/50 (Qatari)
G=0.2332/3033 (GoESP)
G=0.236607/1060 (Estonian)
G=0.238477/238 (GoNL)
C=0.424051/67 (SGDP_PRJ)
C=0.5/6 (Siberian)
HGVS:: NC_000001.11:g.171108231C>A, NC_000001.11:g.171108231C>G, NC_000001.11:g.171108231C>T, NC_000001.10:g.171077372C>A, NC_000001.10:g.171077372C>G, NC_000001.10:g.171077372C>T, NG_012690.2:g.22328C>A, NG_012690.2:g.22328C>G, NG_012690.2:g.22328C>T, NG_012690.1:g.22355C>A, NG_012690.1:g.22355C>G, NG_012690.1:g.22355C>T, NG_082240.1:g.629C>A, NG_082240.1:g.629C>G, NG_082240.1:g.629C>T

PubMed

Select item 20665369.

rs2066536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:171114085 (GRCh38)
1:171083225 (GRCh37)
Canonical SPDI:: NC_000001.11:171114084:C:T
Gene:: FMO3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0000442/11 (ALFA)
T=0.0000314/44 (GnomAD_exomes)
T=0.0000992/12 (ExAC)
T=0.0001511/40 (TOPMED)
T=0.0001538/2 (GoESP)
T=0.0002882/43 (GnomAD_genomes)
T=0.008399/661 (PAGE_STUDY)
C=0.3333333/2 (SGDP_PRJ)
HGVS:: NC_000001.11:g.171114085C>T, NC_000001.10:g.171083225C>T, NG_012690.2:g.28182C>T, NG_012690.1:g.28208C>T, NM_006894.6:c.906C>T, NM_006894.5:c.906C>T, NM_001002294.3:c.906C>T, NM_001002294.2:c.906C>T, NM_001319173.2:c.846C>T, NM_001319173.1:c.846C>T, NM_001319174.2:c.717C>T, NM_001319174.1:c.717C>T, XM_047416207.1:c.846C>T

PubMed

Select item 206653710.

rs2066537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:171104004 (GRCh38)
1:171073145 (GRCh37)
Canonical SPDI:: NC_000001.11:171104003:C:A,NC_000001.11:171104003:C:T
Gene:: FMO3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0023212/61 (ALFA)
T=0.0000258/2 (TOMMO)
A=0.0004296/554 (GnomAD_exomes)
A=0.0012043/139 (ExAC)
A=0.0035942/18 (1000Genomes)
A=0.0036137/47 (GoESP)
A=0.0039038/25 (1000Genomes_30X)
A=0.0039664/592 (GnomAD_genomes)
A=0.0046296/1 (Qatari)
A=0.0048018/1271 (TOPMED)
C=0.5/5 (SGDP_PRJ)
HGVS:: NC_000001.11:g.171104004C>A, NC_000001.11:g.171104004C>T, NC_000001.10:g.171073145C>A, NC_000001.10:g.171073145C>T, NG_012690.2:g.18101C>A, NG_012690.2:g.18101C>T, NG_012690.1:g.18128C>A, NG_012690.1:g.18128C>T

Select item 226678011.

rs2266780 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:171114102 (GRCh38)
1:171083242 (GRCh37)
Canonical SPDI:: NC_000001.11:171114101:A:G
Gene:: FMO3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic,likely-pathogenic,benign,benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.1704672/59536 (ALFA)
G=0.0416667/9 (Qatari)
G=0.0792254/90 (Daghestan)
G=0.0814696/51 (Chileans)
G=0.0865084/554 (1000Genomes_30X)
G=0.0890983/6996 (PAGE_STUDY)
G=0.0914537/458 (1000Genomes)
G=0.10047/171 (HapMap)
G=0.1020408/10 (PRJEB36033)
G=0.1239525/32809 (TOPMED)
G=0.1389686/20728 (GnomAD_genomes)
G=0.1468927/52 (PharmGKB)
G=0.1475954/89 (Vietnamese)
G=0.1529342/18524 (ExAC)
G=0.1573034/84 (MGP)
G=0.1592105/121 (PRJEB37584)
G=0.1626638/298 (Korea1K)
G=0.1672355/490 (KOREAN)
G=0.171551/1241 (Korea4K)
G=0.1806447/253020 (GnomAD_exomes)
G=0.1925272/742 (ALSPAC)
G=0.1947141/722 (TWINSUK)
G=0.1967431/15235 (TOMMO)
G=0.2164329/216 (GoNL)
G=0.2325893/1042 (Estonian)
G=0.2434211/74 (FINRISK)
G=0.25/10 (GENOME_DK)
G=0.2733333/164 (NorthernSweden)
A=0.4/8 (Siberian)
A=0.4310345/50 (SGDP_PRJ)
HGVS:: NC_000001.11:g.171114102A>G, NC_000001.10:g.171083242A>G, NG_012690.2:g.28199A>G, NG_012690.1:g.28225A>G, NM_006894.6:c.923A>G, NM_006894.5:c.923A>G, NM_001002294.3:c.923A>G, NM_001002294.2:c.923A>G, NM_001319173.2:c.863A>G, NM_001319173.1:c.863A>G, NM_001319174.2:c.734A>G, NM_001319174.1:c.734A>G, XM_047416207.1:c.863A>G, NP_008825.4:p.Glu308Gly, NP_001002294.1:p.Glu308Gly, NP_001306102.1:p.Glu288Gly, NP_001306103.1:p.Glu245Gly, XP_047272163.1:p.Glu288Gly

PubMed

Select item 226678212.

rs2266782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:171107825 (GRCh38)
1:171076966 (GRCh37)
Canonical SPDI:: NC_000001.11:171107824:G:A
Gene:: FMO3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic,likely-pathogenic,benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.4004948/157819 (ALFA)
A=0.1721311/105 (Vietnamese)
A=0.1834061/336 (Korea1K)
A=0.1911263/560 (KOREAN)
A=0.1948285/1409 (Korea4K)
A=0.2090209/16187 (TOMMO)
A=0.3008637/627 (HGDP_Stanford)
A=0.3101852/67 (Qatari)
A=0.3240223/116 (PharmGKB)
A=0.3333333/24 (PRJEB36033)
A=0.3478435/1742 (1000Genomes)
A=0.3493129/2237 (1000Genomes_30X)
A=0.3501873/187 (MGP)
G=0.3571429/10 (Siberian)
A=0.3714867/29236 (PAGE_STUDY)
A=0.3814815/721 (HapMap)
G=0.3823529/104 (SGDP_PRJ)
A=0.3829668/46460 (ExAC)
A=0.4/16 (GENOME_DK)
A=0.4000416/105887 (TOPMED)
A=0.4021235/563330 (GnomAD_exomes)
A=0.407767/1512 (TWINSUK)
A=0.4080967/60786 (GnomAD_genomes)
A=0.409331/465 (Daghestan)
A=0.4144737/126 (FINRISK)
A=0.4174883/1609 (ALSPAC)
A=0.4589178/458 (GoNL)
A=0.4666667/280 (NorthernSweden)
A=0.4698661/2105 (Estonian)
HGVS:: NC_000001.11:g.171107825G>A, NC_000001.10:g.171076966G>A, NG_012690.2:g.21922G>A, NG_012690.1:g.21949G>A, NM_006894.6:c.472G>A, NM_006894.5:c.472G>A, NM_001002294.3:c.472G>A, NM_001002294.2:c.472G>A, NM_001319173.2:c.412G>A, NM_001319173.1:c.412G>A, NM_001319174.2:c.283G>A, NM_001319174.1:c.283G>A, NG_082240.1:g.223G>A, XM_047416207.1:c.412G>A, NP_008825.4:p.Glu158Lys, NP_001002294.1:p.Glu158Lys, NP_001306102.1:p.Glu138Lys, NP_001306103.1:p.Glu95Lys, XP_047272163.1:p.Glu138Lys

PubMed

Select item 383202413.

rs3832024 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:171108185 (GRCh38)
1:171077326 (GRCh37)
Canonical SPDI:: NC_000001.11:171108182:TGTG:TG
Gene:: FMO3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,inframe_indel
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0.0000712/1 (ALFA)
-=0.0000735/103 (GnomAD_exomes)
-=0.0000871/13 (GnomAD_genomes)
-=0.0001814/22 (ExAC)
-=0.0001889/50 (TOPMED)
-=0.0005459/1 (Korea1K)
-=0.0008294/6 (Korea4K)
-=0.0017432/135 (TOMMO)
HGVS:: NC_000001.11:g.171108183TG[1], NC_000001.10:g.171077324TG[1], NG_012690.2:g.22280TG[1], NG_012690.1:g.22307TG[1], NM_006894.6:c.591_592del, NM_006894.5:c.591_592del, NM_001002294.3:c.591_592del, NM_001002294.2:c.591_592del, NM_001319173.2:c.531_532del, NM_001319173.1:c.531_532del, NM_001319174.2:c.402_403del, NM_001319174.1:c.402_403del, NG_082240.1:g.581TG[1], XM_047416207.1:c.531_532del, NP_008825.4:p.Cys197_Asp198delinsTer, NP_001002294.1:p.Cys197_Asp198delinsTer, NP_001306102.1:p.Cys177_Asp178delinsTer, NP_001306103.1:p.Cys134_Asp135delinsTer, XP_047272163.1:p.Cys177_Asp178delinsTer

Select item 1157828114.

rs11578281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:171090963 (GRCh38)
1:171060104 (GRCh37)
Canonical SPDI:: NC_000001.11:171090962:G:A,NC_000001.11:171090962:G:T
Gene:: FMO3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.010815/2723 (ALFA)
A=0.000342/1 (KOREAN)
A=0.000415/3 (Korea4K)
A=0.002596/13 (1000Genomes)
A=0.002967/19 (1000Genomes_30X)
A=0.00463/1 (Qatari)
A=0.00558/25 (Estonian)
A=0.008403/2 (GnomAD_exomes)
A=0.009868/6 (HapMap)
A=0.011022/11 (GoNL)
A=0.014271/55 (ALSPAC)
A=0.016667/10 (NorthernSweden)
A=0.01699/63 (TWINSUK)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000001.11:g.171090963G>A, NC_000001.11:g.171090963G>T, NC_000001.10:g.171060104G>A, NC_000001.10:g.171060104G>T, NG_012690.2:g.5060G>A, NG_012690.2:g.5060G>T, NG_012690.1:g.5087G>A, NG_012690.1:g.5087G>T, NM_006894.6:c.-8G>A, NM_006894.6:c.-8G>T, NM_006894.5:c.-8G>A, NM_006894.5:c.-8G>T, NM_001002294.3:c.-25G>A, NM_001002294.3:c.-25G>T, NM_001002294.2:c.-25G>A, NM_001002294.2:c.-25G>T, NM_001319173.2:c.-195G>A, NM_001319173.2:c.-195G>T, NM_001319173.1:c.-195G>A, NM_001319173.1:c.-195G>T, NM_001319174.2:c.-25G>A, NM_001319174.2:c.-25G>T, NM_001319174.1:c.-25G>A, NM_001319174.1:c.-25G>T

Select item 1207258215.

rs12072582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:171107747 (GRCh38)
1:171076888 (GRCh37)
Canonical SPDI:: NC_000001.11:171107746:G:C,NC_000001.11:171107746:G:T
Gene:: FMO3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001723/190 (ALFA)
C=0./0 (ALSPAC)
C=0.00027/1 (TWINSUK)
C=0.012533/1870 (GnomAD_genomes)
C=0.013438/3557 (TOPMED)
C=0.013609/177 (GoESP)
C=0.014045/5 (PharmGKB)
C=0.014577/73 (1000Genomes)
C=0.016552/106 (1000Genomes_30X)
C=0.019734/1553 (PAGE_STUDY)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.171107747G>C, NC_000001.11:g.171107747G>T, NC_000001.10:g.171076888G>C, NC_000001.10:g.171076888G>T, NG_012690.2:g.21844G>C, NG_012690.2:g.21844G>T, NG_012690.1:g.21871G>C, NG_012690.1:g.21871G>T, NM_006894.6:c.394G>C, NM_006894.6:c.394G>T, NM_006894.5:c.394G>C, NM_006894.5:c.394G>T, NM_001002294.3:c.394G>C, NM_001002294.3:c.394G>T, NM_001002294.2:c.394G>C, NM_001002294.2:c.394G>T, NM_001319173.2:c.334G>C, NM_001319173.2:c.334G>T, NM_001319173.1:c.334G>C, NM_001319173.1:c.334G>T, NM_001319174.2:c.205G>C, NM_001319174.2:c.205G>T, NM_001319174.1:c.205G>C, NM_001319174.1:c.205G>T, NG_082240.1:g.145G>C, NG_082240.1:g.145G>T, XM_047416207.1:c.334G>C, XM_047416207.1:c.334G>T, NP_008825.4:p.Asp132His, NP_008825.4:p.Asp132Tyr, NP_001002294.1:p.Asp132His, NP_001002294.1:p.Asp132Tyr, NP_001306102.1:p.Asp112His, NP_001306102.1:p.Asp112Tyr, NP_001306103.1:p.Asp69His, NP_001306103.1:p.Asp69Tyr, XP_047272163.1:p.Asp112His, XP_047272163.1:p.Asp112Tyr

PubMed

Select item 2836354616.

rs28363546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:171107746 (GRCh38)
1:171076887 (GRCh37)
Canonical SPDI:: NC_000001.11:171107745:G:A
Gene:: FMO3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0000186/2 (ALFA)
A=0.0000402/6 (GnomAD_genomes)
A=0.0000428/60 (GnomAD_exomes)
A=0.0000793/21 (TOPMED)
A=0.0000889/7 (PAGE_STUDY)
A=0.0001562/1 (1000Genomes_30X)
A=0.0001815/22 (ExAC)
A=0.0001997/1 (1000Genomes)
HGVS:: NC_000001.11:g.171107746G>A, NC_000001.10:g.171076887G>A, NG_012690.2:g.21843G>A, NG_012690.1:g.21870G>A, NM_006894.6:c.393G>A, NM_006894.5:c.393G>A, NM_001002294.3:c.393G>A, NM_001002294.2:c.393G>A, NM_001319173.2:c.333G>A, NM_001319173.1:c.333G>A, NM_001319174.2:c.204G>A, NM_001319174.1:c.204G>A, NG_082240.1:g.144G>A, XM_047416207.1:c.333G>A

Select item 2836354917.

rs28363549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:171108207 (GRCh38)
1:171077348 (GRCh37)
Canonical SPDI:: NC_000001.11:171108206:C:T
Gene:: FMO3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0001206/32 (ALFA)
T=0.0001209/32 (TOPMED)
T=0.0001676/25 (GnomAD_genomes)
T=0.0002144/26 (ExAC)
T=0.0004268/598 (GnomAD_exomes)
T=0.0004685/3 (1000Genomes_30X)
T=0.000599/3 (1000Genomes)
T=0.0021094/166 (PAGE_STUDY)
T=0.0025253/2 (PRJEB37584)
T=0.0060044/11 (Korea1K)
T=0.0075291/22 (KOREAN)
T=0.0080177/58 (Korea4K)
T=0.0134529/6 (HapMap)
T=0.029351/2273 (TOMMO)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000001.11:g.171108207C>T, NC_000001.10:g.171077348C>T, NG_012690.2:g.22304C>T, NG_012690.1:g.22331C>T, NM_006894.6:c.613C>T, NM_006894.5:c.613C>T, NM_001002294.3:c.613C>T, NM_001002294.2:c.613C>T, NM_001319173.2:c.553C>T, NM_001319173.1:c.553C>T, NM_001319174.2:c.424C>T, NM_001319174.1:c.424C>T, NG_082240.1:g.605C>T, XM_047416207.1:c.553C>T, NP_008825.4:p.Arg205Cys, NP_001002294.1:p.Arg205Cys, NP_001306102.1:p.Arg185Cys, NP_001306103.1:p.Arg142Cys, XP_047272163.1:p.Arg185Cys

Select item 2836356518.

rs28363565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:171111016 (GRCh38)
1:171080157 (GRCh37)
Canonical SPDI:: NC_000001.11:171111015:T:C
Gene:: FMO3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0006241/9 (ALFA)
C=0.0000678/94 (GnomAD_exomes)
C=0.0002155/26 (ExAC)
C=0.0005382/7 (GoESP)
C=0.0006766/101 (GnomAD_genomes)
C=0.0007934/210 (TOPMED)
C=0.0009369/6 (1000Genomes_30X)
C=0.0009984/5 (1000Genomes)
C=0.0092593/2 (Qatari)
HGVS:: NC_000001.11:g.171111016T>C, NC_000001.10:g.171080157T>C, NG_012690.2:g.25113T>C, NG_012690.1:g.25140T>C

Select item 2836358119.

rs28363581 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:171114258 (GRCh38)
1:171083398 (GRCh37)
Canonical SPDI:: NC_000001.11:171114257:T:C
Gene:: FMO3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign,not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002987/103 (ALFA)
C=0.0001434/201 (GnomAD_exomes)
C=0.0003893/47 (ExAC)
C=0.0013071/17 (GoESP)
C=0.0014734/220 (GnomAD_genomes)
C=0.0017228/456 (TOPMED)
C=0.0019968/10 (1000Genomes)
C=0.0021861/14 (1000Genomes_30X)
C=0.0024652/194 (PAGE_STUDY)
C=0.0027933/1 (PharmGKB)
C=0.0046296/1 (Qatari)
C=0.0079365/4 (HapMap)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.171114258T>C, NC_000001.10:g.171083398T>C, NG_012690.2:g.28355T>C, NG_012690.1:g.28381T>C, NM_006894.6:c.1079T>C, NM_006894.5:c.1079T>C, NM_001002294.3:c.1079T>C, NM_001002294.2:c.1079T>C, NM_001319173.2:c.1019T>C, NM_001319173.1:c.1019T>C, NM_001319174.2:c.890T>C, NM_001319174.1:c.890T>C, XM_047416207.1:c.1019T>C, NP_008825.4:p.Leu360Pro, NP_001002294.1:p.Leu360Pro, NP_001306102.1:p.Leu340Pro, NP_001306103.1:p.Leu297Pro, XP_047272163.1:p.Leu340Pro

Select item 2836359520.

rs28363595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:171117373 (GRCh38)
1:171086513 (GRCh37)
Canonical SPDI:: NC_000001.11:171117372:C:G,NC_000001.11:171117372:C:T
Gene:: FMO3 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000403/91 (ALFA)
T=0.000917/137 (GnomAD_genomes)
T=0.001171/310 (TOPMED)
T=0.001296/102 (PAGE_STUDY)
T=0.001899/230 (ExAC)
T=0.004685/30 (1000Genomes_30X)
T=0.005192/26 (1000Genomes)
T=0.008897/689 (TOMMO)
T=0.018868/8 (HapMap)
T=0.018939/15 (PRJEB37584)
T=0.023472/43 (Korea1K)
T=0.024298/71 (KOREAN)
T=0.02585/187 (Korea4K)
T=0.03268/20 (Vietnamese)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.171117373C>G, NC_000001.11:g.171117373C>T, NC_000001.10:g.171086513C>G, NC_000001.10:g.171086513C>T, NG_012690.2:g.31470C>G, NG_012690.2:g.31470C>T, NG_012690.1:g.31496C>G, NG_012690.1:g.31496C>T, NM_006894.6:c.1530C>G, NM_006894.6:c.1530C>T, NM_006894.5:c.1530C>G, NM_006894.5:c.1530C>T, NM_001002294.3:c.1530C>G, NM_001002294.3:c.1530C>T, NM_001002294.2:c.1530C>G, NM_001002294.2:c.1530C>T, NM_001319173.2:c.1470C>G, NM_001319173.2:c.1470C>T, NM_001319173.1:c.1470C>G, NM_001319173.1:c.1470C>T, NM_001319174.2:c.1341C>G, NM_001319174.2:c.1341C>T, NM_001319174.1:c.1341C>G, NM_001319174.1:c.1341C>T, XM_047416207.1:c.1470C>G, XM_047416207.1:c.1470C>T, NP_008825.4:p.Phe510Leu, NP_001002294.1:p.Phe510Leu, NP_001306102.1:p.Phe490Leu, NP_001306103.1:p.Phe447Leu, XP_047272163.1:p.Phe490Leu

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