rs13146272 - SNP

Select item 131462721.

rs13146272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:186199057 (GRCh38)
4:187120211 (GRCh37)
Canonical SPDI:: NC_000004.12:186199056:C:A,NC_000004.12:186199056:C:T
Gene:: CYP4V2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.3872531/146913 (ALFA)
C=0.25/10 (GENOME_DK)
C=0.2777778/10 (Siberian)
C=0.2928571/123 (SGDP_PRJ)
C=0.3316633/331 (GoNL)
C=0.3354911/1503 (Estonian)
A=0.3411572/625 (Korea1K)
C=0.3433333/206 (NorthernSweden)
C=0.3453947/105 (FINRISK)
A=0.3475374/2512 (Korea4K)
A=0.3559727/1043 (KOREAN)
C=0.3600324/1335 (TWINSUK)
C=0.3640374/1403 (ALSPAC)
C=0.3717515/4835 (GoESP)
A=0.3734177/295 (PRJEB37584)
C=0.3810399/533398 (GnomAD_exomes)
C=0.3946432/58805 (GnomAD_genomes)
A=0.4019524/31128 (TOMMO)
C=0.4147533/50327 (ExAC)
C=0.4155918/110003 (TOPMED)
C=0.4157303/222 (MGP)
A=0.4217252/264 (Chileans)
C=0.4225352/480 (Daghestan)
C=0.4406949/2207 (1000Genomes)
C=0.4420675/2831 (1000Genomes_30X)
C=0.4462766/839 (HapMap)
A=0.4535073/278 (Vietnamese)
C=0.4722222/102 (Qatari)
C=0.4788442/37686 (PAGE_STUDY)
C=0.4971209/1036 (HGDP_Stanford)
C=0.5/26 (PRJEB36033)
HGVS:: NC_000004.12:g.186199057C>A, NC_000004.12:g.186199057C>T, NC_000004.11:g.187120211C>A, NC_000004.11:g.187120211C>T, NG_007965.1:g.12538C>A, NG_007965.1:g.12538C>T, NM_207352.4:c.775C>A, NM_207352.4:c.775C>T, NM_207352.3:c.775C>A, NM_207352.3:c.775C>T, XM_005262935.5:c.775C>A, XM_005262935.5:c.775C>T, XM_005262935.4:c.775C>A, XM_005262935.4:c.775C>T, XM_005262935.3:c.775C>A, XM_005262935.3:c.775C>T, XM_005262935.2:c.775C>A, XM_005262935.2:c.775C>T, XM_005262935.1:c.775C>A, XM_005262935.1:c.775C>T, XM_047450077.1:c.379C>A, XM_047450077.1:c.379C>T, NP_997235.3:p.Gln259Lys, NP_997235.3:p.Gln259Ter, XP_005262992.1:p.Gln259Lys, XP_005262992.1:p.Gln259Ter, XP_047306033.1:p.Gln127Lys, XP_047306033.1:p.Gln127Ter

PubMed

Select item 609915022.

rs60991502 has merged into rs13146272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:186199057 (GRCh38)
4:187120211 (GRCh37)
Canonical SPDI:: NC_000004.12:186199056:C:A,NC_000004.12:186199056:C:T
Gene:: CYP4V2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.3872531/146913 (ALFA)
C=0.25/10 (GENOME_DK)
C=0.2777778/10 (Siberian)
C=0.2928571/123 (SGDP_PRJ)
C=0.3316633/331 (GoNL)
C=0.3354911/1503 (Estonian)
A=0.3411572/625 (Korea1K)
C=0.3433333/206 (NorthernSweden)
C=0.3453947/105 (FINRISK)
A=0.3475374/2512 (Korea4K)
A=0.3559727/1043 (KOREAN)
C=0.3600324/1335 (TWINSUK)
C=0.3640374/1403 (ALSPAC)
C=0.3717515/4835 (GoESP)
A=0.3734177/295 (PRJEB37584)
C=0.3810399/533398 (GnomAD_exomes)
C=0.3946432/58805 (GnomAD_genomes)
A=0.4019524/31128 (TOMMO)
C=0.4147533/50327 (ExAC)
C=0.4155918/110003 (TOPMED)
C=0.4157303/222 (MGP)
A=0.4217252/264 (Chileans)
C=0.4225352/480 (Daghestan)
C=0.4406949/2207 (1000Genomes)
C=0.4420675/2831 (1000Genomes_30X)
C=0.4462766/839 (HapMap)
A=0.4535073/278 (Vietnamese)
C=0.4722222/102 (Qatari)
C=0.4788442/37686 (PAGE_STUDY)
C=0.4971209/1036 (HGDP_Stanford)
C=0.5/26 (PRJEB36033)
HGVS:: NC_000004.12:g.186199057C>A, NC_000004.12:g.186199057C>T, NC_000004.11:g.187120211C>A, NC_000004.11:g.187120211C>T, NG_007965.1:g.12538C>A, NG_007965.1:g.12538C>T, NM_207352.4:c.775C>A, NM_207352.4:c.775C>T, NM_207352.3:c.775C>A, NM_207352.3:c.775C>T, XM_005262935.5:c.775C>A, XM_005262935.5:c.775C>T, XM_005262935.4:c.775C>A, XM_005262935.4:c.775C>T, XM_005262935.3:c.775C>A, XM_005262935.3:c.775C>T, XM_005262935.2:c.775C>A, XM_005262935.2:c.775C>T, XM_005262935.1:c.775C>A, XM_005262935.1:c.775C>T, XM_047450077.1:c.379C>A, XM_047450077.1:c.379C>T, NP_997235.3:p.Gln259Lys, NP_997235.3:p.Gln259Ter, XP_005262992.1:p.Gln259Lys, XP_005262992.1:p.Gln259Ter, XP_047306033.1:p.Gln127Lys, XP_047306033.1:p.Gln127Ter

Select item 528305943.

rs52830594 has merged into rs13146272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:186199057 (GRCh38)
4:187120211 (GRCh37)
Canonical SPDI:: NC_000004.12:186199056:C:A,NC_000004.12:186199056:C:T
Gene:: CYP4V2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.3872531/146913 (ALFA)
C=0.25/10 (GENOME_DK)
C=0.2777778/10 (Siberian)
C=0.2928571/123 (SGDP_PRJ)
C=0.3316633/331 (GoNL)
C=0.3354911/1503 (Estonian)
A=0.3411572/625 (Korea1K)
C=0.3433333/206 (NorthernSweden)
C=0.3453947/105 (FINRISK)
A=0.3475374/2512 (Korea4K)
A=0.3559727/1043 (KOREAN)
C=0.3600324/1335 (TWINSUK)
C=0.3640374/1403 (ALSPAC)
C=0.3717515/4835 (GoESP)
A=0.3734177/295 (PRJEB37584)
C=0.3810399/533398 (GnomAD_exomes)
C=0.3946432/58805 (GnomAD_genomes)
A=0.4019524/31128 (TOMMO)
C=0.4147533/50327 (ExAC)
C=0.4155918/110003 (TOPMED)
C=0.4157303/222 (MGP)
A=0.4217252/264 (Chileans)
C=0.4225352/480 (Daghestan)
C=0.4406949/2207 (1000Genomes)
C=0.4420675/2831 (1000Genomes_30X)
C=0.4462766/839 (HapMap)
A=0.4535073/278 (Vietnamese)
C=0.4722222/102 (Qatari)
C=0.4788442/37686 (PAGE_STUDY)
C=0.4971209/1036 (HGDP_Stanford)
C=0.5/26 (PRJEB36033)
HGVS:: NC_000004.12:g.186199057C>A, NC_000004.12:g.186199057C>T, NC_000004.11:g.187120211C>A, NC_000004.11:g.187120211C>T, NG_007965.1:g.12538C>A, NG_007965.1:g.12538C>T, NM_207352.4:c.775C>A, NM_207352.4:c.775C>T, NM_207352.3:c.775C>A, NM_207352.3:c.775C>T, XM_005262935.5:c.775C>A, XM_005262935.5:c.775C>T, XM_005262935.4:c.775C>A, XM_005262935.4:c.775C>T, XM_005262935.3:c.775C>A, XM_005262935.3:c.775C>T, XM_005262935.2:c.775C>A, XM_005262935.2:c.775C>T, XM_005262935.1:c.775C>A, XM_005262935.1:c.775C>T, XM_047450077.1:c.379C>A, XM_047450077.1:c.379C>T, NP_997235.3:p.Gln259Lys, NP_997235.3:p.Gln259Ter, XP_005262992.1:p.Gln259Lys, XP_005262992.1:p.Gln259Ter, XP_047306033.1:p.Gln127Lys, XP_047306033.1:p.Gln127Ter

Select item 178575044.

rs17857504 has merged into rs13146272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:186199057 (GRCh38)
4:187120211 (GRCh37)
Canonical SPDI:: NC_000004.12:186199056:C:A,NC_000004.12:186199056:C:T
Gene:: CYP4V2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.3872531/146913 (ALFA)
C=0.25/10 (GENOME_DK)
C=0.2777778/10 (Siberian)
C=0.2928571/123 (SGDP_PRJ)
C=0.3316633/331 (GoNL)
C=0.3354911/1503 (Estonian)
A=0.3411572/625 (Korea1K)
C=0.3433333/206 (NorthernSweden)
C=0.3453947/105 (FINRISK)
A=0.3475374/2512 (Korea4K)
A=0.3559727/1043 (KOREAN)
C=0.3600324/1335 (TWINSUK)
C=0.3640374/1403 (ALSPAC)
C=0.3717515/4835 (GoESP)
A=0.3734177/295 (PRJEB37584)
C=0.3810399/533398 (GnomAD_exomes)
C=0.3946432/58805 (GnomAD_genomes)
A=0.4019524/31128 (TOMMO)
C=0.4147533/50327 (ExAC)
C=0.4155918/110003 (TOPMED)
C=0.4157303/222 (MGP)
A=0.4217252/264 (Chileans)
C=0.4225352/480 (Daghestan)
C=0.4406949/2207 (1000Genomes)
C=0.4420675/2831 (1000Genomes_30X)
C=0.4462766/839 (HapMap)
A=0.4535073/278 (Vietnamese)
C=0.4722222/102 (Qatari)
C=0.4788442/37686 (PAGE_STUDY)
C=0.4971209/1036 (HGDP_Stanford)
C=0.5/26 (PRJEB36033)
HGVS:: NC_000004.12:g.186199057C>A, NC_000004.12:g.186199057C>T, NC_000004.11:g.187120211C>A, NC_000004.11:g.187120211C>T, NG_007965.1:g.12538C>A, NG_007965.1:g.12538C>T, NM_207352.4:c.775C>A, NM_207352.4:c.775C>T, NM_207352.3:c.775C>A, NM_207352.3:c.775C>T, XM_005262935.5:c.775C>A, XM_005262935.5:c.775C>T, XM_005262935.4:c.775C>A, XM_005262935.4:c.775C>T, XM_005262935.3:c.775C>A, XM_005262935.3:c.775C>T, XM_005262935.2:c.775C>A, XM_005262935.2:c.775C>T, XM_005262935.1:c.775C>A, XM_005262935.1:c.775C>T, XM_047450077.1:c.379C>A, XM_047450077.1:c.379C>T, NP_997235.3:p.Gln259Lys, NP_997235.3:p.Gln259Ter, XP_005262992.1:p.Gln259Lys, XP_005262992.1:p.Gln259Ter, XP_047306033.1:p.Gln127Lys, XP_047306033.1:p.Gln127Ter

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