map3k7 - SNP

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Select item 1501261.

rs150126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:90523410 (GRCh38)
6:91233129 (GRCh37)
Canonical SPDI:: NC_000006.12:90523409:C:T
Gene:: MAP3K7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.29063/5490 (ALFA)
C=0.224359/105 (SGDP_PRJ)
C=0.24537/53 (Qatari)
C=0.283567/283 (GoNL)
C=0.291667/14 (Siberian)
C=0.291779/43345 (GnomAD_genomes)
C=0.29193/77271 (TOPMED)
C=0.299892/1112 (TWINSUK)
C=0.304359/1173 (ALSPAC)
C=0.317458/2033 (1000Genomes_30X)
C=0.319866/1433 (Estonian)
C=0.321885/1612 (1000Genomes)
C=0.325/13 (GENOME_DK)
C=0.346667/208 (NorthernSweden)
C=0.349693/114 (HapMap)
T=0.428512/3099 (Korea4K)
T=0.429039/786 (Korea1K)
T=0.445734/1306 (KOREAN)
C=0.476636/102 (Vietnamese)
T=0.484911/37535 (TOMMO)
HGVS:: NC_000006.12:g.90523410C>T, NC_000006.11:g.91233129C>T, NG_011966.2:g.68779G>A

Select item 1574282.

rs157428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:90568763 (GRCh38)
6:91278482 (GRCh37)
Canonical SPDI:: NC_000006.12:90568762:C:T
Gene:: MAP3K7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.024596/472 (ALFA)
C=0./0 (GENOME_DK)
C=0./0 (KOREAN)
C=0./0 (Korea1K)
C=0./0 (Korea4K)
C=0./0 (Qatari)
C=0./0 (Siberian)
C=0./0 (TOMMO)
C=0./0 (Vietnamese)
C=0.001792/1 (SGDP_PRJ)
C=0.007188/36 (1000Genomes)
C=0.007964/51 (1000Genomes_30X)
C=0.016741/75 (Estonian)
C=0.018405/6 (HapMap)
C=0.018542/4908 (TOPMED)
C=0.019274/2878 (GnomAD_genomes)
C=0.024921/10522 (GnomAD_exomes)
C=0.035/21 (NorthernSweden)
C=0.037074/37 (GoNL)
C=0.038296/142 (TWINSUK)
C=0.041775/161 (ALSPAC)
HGVS:: NC_000006.12:g.90568763C>T, NC_000006.11:g.91278482C>T, NG_011966.2:g.23426G>A

Select item 1574293.

rs157429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:90568832 (GRCh38)
6:91278551 (GRCh37)
Canonical SPDI:: NC_000006.12:90568831:C:G,NC_000006.12:90568831:C:T
Gene:: MAP3K7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.321281/6069 (ALFA)
G=0.268647/1203 (Estonian)
G=0.288333/173 (NorthernSweden)
G=0.290476/61 (Vietnamese)
G=0.3/12 (GENOME_DK)
G=0.316814/1221 (ALSPAC)
G=0.318231/583 (Korea1K)
G=0.324758/2348 (Korea4K)
G=0.327131/1213 (TWINSUK)
G=0.331741/972 (KOREAN)
G=0.333712/25840 (TOMMO)
G=0.348324/92198 (TOPMED)
G=0.359719/359 (GoNL)
G=0.374401/1875 (1000Genomes)
G=0.376015/2408 (1000Genomes_30X)
C=0.38125/122 (SGDP_PRJ)
G=0.381818/126 (HapMap)
G=0.416667/90 (Qatari)
C=0.5/13 (Siberian)
HGVS:: NC_000006.12:g.90568832C>G, NC_000006.12:g.90568832C>T, NC_000006.11:g.91278551C>G, NC_000006.11:g.91278551C>T, NG_011966.2:g.23357G>C, NG_011966.2:g.23357G>A

Select item 2053434.

rs205343 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:90550397 (GRCh38)
6:91260116 (GRCh37)
Canonical SPDI:: NC_000006.12:90550396:T:A,NC_000006.12:90550396:T:C,NC_000006.12:90550396:T:G
Gene:: MAP3K7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.336159/12889 (ALFA)
G=0./0 (KOREAN)
C=0.26875/1204 (Estonian)
C=0.288333/173 (NorthernSweden)
C=0.3/12 (GENOME_DK)
C=0.301887/64 (Vietnamese)
C=0.316554/1220 (ALSPAC)
C=0.318231/583 (Korea1K)
C=0.322281/2323 (Korea4K)
C=0.328425/264468 (GnomAD_exomes)
C=0.328479/1218 (TWINSUK)
C=0.333187/25730 (TOMMO)
C=0.351662/550 (HapMap)
C=0.353933/189 (MGP)
C=0.355793/52969 (GnomAD_genomes)
C=0.360721/360 (GoNL)
C=0.363478/96209 (TOPMED)
T=0.383929/129 (SGDP_PRJ)
C=0.387181/1939 (1000Genomes)
C=0.389288/2493 (1000Genomes_30X)
C=0.421296/91 (Qatari)
T=0.5/13 (Siberian)
HGVS:: NC_000006.12:g.90550397T>A, NC_000006.12:g.90550397T>C, NC_000006.12:g.90550397T>G, NC_000006.11:g.91260116T>A, NC_000006.11:g.91260116T>C, NC_000006.11:g.91260116T>G, NG_011966.2:g.41792A>T, NG_011966.2:g.41792A>G, NG_011966.2:g.41792A>C

PubMed

Select item 2820705.

rs282070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:90586701 (GRCh38)
6:91296420 (GRCh37)
Canonical SPDI:: NC_000006.12:90586700:C:G,NC_000006.12:90586700:C:T
Gene:: MAP3K7 (Varview), LOC124901363 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.302012/5705 (ALFA)
C=0.218341/100 (SGDP_PRJ)
C=0.273148/59 (Qatari)
C=0.291667/14 (Siberian)
C=0.300701/1115 (TWINSUK)
C=0.3041/1172 (ALSPAC)
C=0.310814/46353 (GnomAD_genomes)
C=0.313064/82865 (TOPMED)
C=0.319196/1430 (Estonian)
C=0.325/13 (GENOME_DK)
C=0.338851/2170 (1000Genomes_30X)
C=0.342252/1714 (1000Genomes)
C=0.343333/206 (NorthernSweden)
C=0.380368/124 (HapMap)
G=0.430296/784 (Korea1K)
G=0.432687/3124 (Korea4K)
G=0.445697/1305 (KOREAN)
C=0.466981/99 (Vietnamese)
G=0.484956/37555 (TOMMO)
HGVS:: NC_000006.12:g.90586701C>G, NC_000006.12:g.90586701C>T, NC_000006.11:g.91296420C>G, NC_000006.11:g.91296420C>T, NG_011966.2:g.5488G>C, NG_011966.2:g.5488G>A

PubMed

Select item 2820716.

rs282071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:90587361 (GRCh38)
6:91297080 (GRCh37)
Canonical SPDI:: NC_000006.12:90587360:C:T
Gene:: MAP3K7 (Varview), LOC124901363 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.345575/12619 (ALFA)
C=0.267773/113 (SGDP_PRJ)
C=0.291667/14 (Siberian)
C=0.300601/300 (GoNL)
C=0.319444/69 (Qatari)
C=0.329018/1220 (TWINSUK)
C=0.333259/1493 (Estonian)
C=0.335755/1294 (ALSPAC)
C=0.361667/217 (NorthernSweden)
C=0.369725/55072 (GnomAD_genomes)
C=0.375/15 (GENOME_DK)
C=0.379164/100361 (TOPMED)
C=0.410212/2627 (1000Genomes_30X)
C=0.41274/2067 (1000Genomes)
T=0.415393/761 (Korea1K)
T=0.416367/3012 (Korea4K)
C=0.422751/799 (HapMap)
T=0.42901/1257 (KOREAN)
T=0.462264/98 (Vietnamese)
T=0.464336/35960 (TOMMO)
HGVS:: NC_000006.12:g.90587361C>T, NC_000006.11:g.91297080C>T, NG_011966.2:g.4828G>A, XR_007059680.1:n.568C>T, XR_007059679.1:n.149C>T, XR_007059681.1:n.171C>T

PubMed

Select item 4682147.

rs468214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:90560457 (GRCh38)
6:91270176 (GRCh37)
Canonical SPDI:: NC_000006.12:90560456:G:A,NC_000006.12:90560456:G:C,NC_000006.12:90560456:G:T
Gene:: MAP3K7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.26875/1204 (Estonian)
A=0.288333/173 (NorthernSweden)
A=0.288462/60 (Vietnamese)
A=0.316554/1220 (ALSPAC)
A=0.318231/583 (Korea1K)
A=0.325546/2355 (Korea4K)
A=0.327131/1213 (TWINSUK)
A=0.332423/974 (KOREAN)
A=0.333686/25842 (TOMMO)
A=0.342732/51054 (GnomAD_genomes)
A=0.348313/92195 (TOPMED)
A=0.359719/359 (GoNL)
A=0.374401/1875 (1000Genomes)
A=0.376015/2408 (1000Genomes_30X)
G=0.38125/122 (SGDP_PRJ)
A=0.416667/90 (Qatari)
G=0.5/13 (Siberian)
HGVS:: NC_000006.12:g.90560457G>A, NC_000006.12:g.90560457G>C, NC_000006.12:g.90560457G>T, NC_000006.11:g.91270176G>A, NC_000006.11:g.91270176G>C, NC_000006.11:g.91270176G>T, NG_011966.2:g.31732C>T, NG_011966.2:g.31732C>G, NG_011966.2:g.31732C>A

Select item 11457278.

rs1145727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:90518704 (GRCh38)
6:91228423 (GRCh37)
Canonical SPDI:: NC_000006.12:90518703:A:G
Gene:: MAP3K7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.270249/5105 (ALFA)
G=0.003745/2 (MGP)
G=0.068125/492 (Korea4K)
G=0.076318/223 (KOREAN)
G=0.076419/140 (Korea1K)
G=0.095506/7336 (TOMMO)
G=0.138889/30 (Vietnamese)
G=0.168712/55 (HapMap)
G=0.177516/889 (1000Genomes)
G=0.179107/1147 (1000Genomes_30X)
G=0.2/8 (GENOME_DK)
G=0.227296/60163 (TOPMED)
G=0.239298/35586 (GnomAD_genomes)
G=0.24805/103920 (GnomAD_exomes)
G=0.256513/256 (GoNL)
G=0.26/156 (NorthernSweden)
G=0.26699/990 (TWINSUK)
G=0.268519/58 (Qatari)
G=0.272444/1050 (ALSPAC)
G=0.333705/1495 (Estonian)
A=0.45/9 (Siberian)
G=0.454545/20 (PRJEB36033)
A=0.458904/67 (SGDP_PRJ)
HGVS:: NC_000006.12:g.90518704A>G, NC_000006.11:g.91228423A>G, NG_011966.2:g.73485T>C

PubMed

Select item 11457359.

rs1145735 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:90568701 (GRCh38)
6:91278420 (GRCh37)
Canonical SPDI:: NC_000006.12:90568700:T:C
Gene:: MAP3K7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.246776/6009 (ALFA)
C=0.068427/495 (Korea4K)
C=0.076419/140 (Korea1K)
C=0.07666/224 (KOREAN)
C=0.095792/7417 (TOMMO)
C=0.12553/237 (HapMap)
C=0.127341/68 (MGP)
C=0.130841/28 (Vietnamese)
C=0.141474/906 (1000Genomes_30X)
C=0.142772/715 (1000Genomes)
C=0.193396/51190 (TOPMED)
C=0.2/8 (GENOME_DK)
C=0.208741/31127 (GnomAD_genomes)
C=0.236111/51 (Qatari)
C=0.249343/204574 (GnomAD_exomes)
C=0.256513/256 (GoNL)
C=0.263333/158 (NorthernSweden)
C=0.268069/994 (TWINSUK)
C=0.274261/1057 (ALSPAC)
C=0.335714/1504 (Estonian)
T=0.409091/9 (Siberian)
T=0.447761/60 (SGDP_PRJ)
T=0.5/6 (PRJEB36033)
HGVS:: NC_000006.12:g.90568701T>C, NC_000006.11:g.91278420T>C, NG_011966.2:g.23488A>G

Select item 227356710.

rs2273567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:90547209 (GRCh38)
6:91256928 (GRCh37)
Canonical SPDI:: NC_000006.12:90547208:A:G,NC_000006.12:90547208:A:T
Gene:: MAP3K7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.2990382/8208 (ALFA)
T=0.2606785/68999 (TOPMED)
T=0.2651749/39510 (GnomAD_genomes)
T=0.2661848/3462 (GoESP)
T=0.26875/1204 (Estonian)
T=0.2711416/513 (HapMap)
T=0.2781074/1781 (1000Genomes_30X)
T=0.2796053/85 (FINRISK)
T=0.2817492/1411 (1000Genomes)
T=0.2883333/173 (NorthernSweden)
T=0.3/12 (GENOME_DK)
T=0.3086497/37396 (ExAC)
T=0.3162948/1219 (ALSPAC)
T=0.316506/437636 (GnomAD_exomes)
T=0.3182314/583 (Korea1K)
T=0.3191489/195 (Vietnamese)
T=0.324115/2344 (Korea4K)
T=0.3271305/1213 (TWINSUK)
T=0.3327645/975 (KOREAN)
T=0.3336863/25842 (TOMMO)
T=0.3445693/184 (MGP)
T=0.3587174/358 (GoNL)
T=0.3842593/83 (Qatari)
A=0.3892617/116 (SGDP_PRJ)
A=0.5/13 (Siberian)
HGVS:: NC_000006.12:g.90547209A>G, NC_000006.12:g.90547209A>T, NC_000006.11:g.91256928A>G, NC_000006.11:g.91256928A>T, NG_011966.2:g.44980T>C, NG_011966.2:g.44980T>A

Select item 321566311.

rs3215663 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 6:90556638 (GRCh38)
6:91266357 (GRCh37)
Canonical SPDI:: NC_000006.12:90556630:AAAAAAAAA:AAAAAAA,NC_000006.12:90556630:AAAAAAAAA:AAAAAAAA,NC_000006.12:90556630:AAAAAAAAA:AAAAAAAAAA,NC_000006.12:90556630:AAAAAAAAA:AAAAAAAAAAA,NC_000006.12:90556630:AAAAAAAAA:AAAAAAAAAAAA
Gene:: MAP3K7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0.00556/114 (ALFA)
A=0.28833/173 (NorthernSweden)
A=0.3/12 (GENOME_DK)
A=0.31578/1217 (ALSPAC)
A=0.31823/583 (Korea1K)
A=0.32713/1213 (TWINSUK)
A=0.36072/360 (GoNL)
A=0.36244/4537 (GoESP)
A=0.38139/1910 (1000Genomes)
A=0.38476/2464 (1000Genomes_30X)
HGVS:: NC_000006.12:g.90556638_90556639del, NC_000006.12:g.90556639del, NC_000006.12:g.90556639dup, NC_000006.12:g.90556638_90556639dup, NC_000006.12:g.90556637_90556639dup, NC_000006.11:g.91266357_91266358del, NC_000006.11:g.91266358del, NC_000006.11:g.91266358dup, NC_000006.11:g.91266357_91266358dup, NC_000006.11:g.91266356_91266358dup, NG_011966.2:g.35557_35558del, NG_011966.2:g.35558del, NG_011966.2:g.35558dup, NG_011966.2:g.35557_35558dup, NG_011966.2:g.35556_35558dup

Select item 375724212.

rs3757242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:90587410 (GRCh38)
6:91297129 (GRCh37)
Canonical SPDI:: NC_000006.12:90587409:C:G
Gene:: MAP3K7 (Varview), LOC124901363 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.073796/1394 (ALFA)
G=0.019849/58 (KOREAN)
G=0.022809/165 (Korea4K)
G=0.023585/5 (Vietnamese)
G=0.027778/6 (Qatari)
G=0.033742/11 (HapMap)
G=0.034877/2701 (TOMMO)
G=0.062054/278 (Estonian)
G=0.063099/316 (1000Genomes)
G=0.063554/407 (1000Genomes_30X)
G=0.07029/10490 (GnomAD_genomes)
G=0.071106/18821 (TOPMED)
G=0.07343/283 (ALSPAC)
G=0.075512/280 (TWINSUK)
G=0.084168/84 (GoNL)
G=0.086667/52 (NorthernSweden)
G=0.125/5 (GENOME_DK)
C=0.485714/34 (SGDP_PRJ)
C=0.5/8 (Siberian)
HGVS:: NC_000006.12:g.90587410C>G, NC_000006.11:g.91297129C>G, NG_011966.2:g.4779G>C, XR_007059680.1:n.617C>G, XR_007059679.1:n.198C>G, XR_007059681.1:n.220C>G

Select item 929446113.

rs9294461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:90559791 (GRCh38)
6:91269510 (GRCh37)
Canonical SPDI:: NC_000006.12:90559790:C:A
Gene:: MAP3K7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.033425/1488 (ALFA)
A=0./0 (PRJEB36033)
A=0.014192/26 (Korea1K)
A=0.014286/64 (Estonian)
A=0.014377/104 (Korea4K)
A=0.01503/15 (GoNL)
A=0.018333/11 (NorthernSweden)
A=0.01848/54 (KOREAN)
A=0.020583/1594 (TOMMO)
A=0.025/1 (GENOME_DK)
A=0.028047/104 (TWINSUK)
A=0.028754/18 (Chileans)
A=0.031136/120 (ALSPAC)
A=0.032407/7 (Qatari)
A=0.035512/5298 (GnomAD_genomes)
A=0.039212/10379 (TOPMED)
A=0.045727/229 (1000Genomes)
A=0.046846/300 (1000Genomes_30X)
A=0.04717/10 (Vietnamese)
A=0.0625/118 (HapMap)
C=0.479167/23 (SGDP_PRJ)
HGVS:: NC_000006.12:g.90559791C>A, NC_000006.11:g.91269510C>A, NG_011966.2:g.32398G>T

Select item 934502914.

rs9345029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:90536288 (GRCh38)
6:91246007 (GRCh37)
Canonical SPDI:: NC_000006.12:90536287:T:A,NC_000006.12:90536287:T:C
Gene:: MAP3K7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.028014/783 (ALFA)
A=0.014192/26 (Korea1K)
A=0.014286/64 (Estonian)
A=0.014653/106 (Korea4K)
A=0.01503/15 (GoNL)
A=0.018333/11 (NorthernSweden)
A=0.01848/54 (KOREAN)
A=0.020542/1586 (TOMMO)
A=0.025/1 (GENOME_DK)
A=0.025223/328 (GoESP)
A=0.02608/3891 (GnomAD_genomes)
A=0.027778/6 (Qatari)
A=0.028317/105 (TWINSUK)
A=0.028758/7612 (TOPMED)
A=0.029699/3545 (ExAC)
A=0.030877/119 (ALSPAC)
A=0.035759/229 (1000Genomes_30X)
A=0.036342/182 (1000Genomes)
A=0.038747/73 (HapMap)
A=0.06367/34 (MGP)
T=0.5/20 (SGDP_PRJ)
HGVS:: NC_000006.12:g.90536288T>A, NC_000006.12:g.90536288T>C, NC_000006.11:g.91246007T>A, NC_000006.11:g.91246007T>C, NG_011966.2:g.55901A>T, NG_011966.2:g.55901A>G

Select item 936275315.

rs9362753 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:90571983 (GRCh38)
6:91281702 (GRCh37)
Canonical SPDI:: NC_000006.12:90571982:A:G
Gene:: MAP3K7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.032398/612 (ALFA)
G=0.014192/26 (Korea1K)
G=0.014286/64 (Estonian)
G=0.014396/104 (Korea4K)
G=0.01503/15 (GoNL)
G=0.01848/54 (KOREAN)
G=0.02/12 (NorthernSweden)
G=0.020538/1589 (TOMMO)
G=0.025/1 (GENOME_DK)
G=0.028047/104 (TWINSUK)
G=0.031136/120 (ALSPAC)
G=0.032407/7 (Qatari)
G=0.037344/5565 (GnomAD_genomes)
G=0.041524/10991 (TOPMED)
G=0.047724/239 (1000Genomes)
G=0.048876/313 (1000Genomes_30X)
G=0.056075/12 (Vietnamese)
A=0.461538/24 (SGDP_PRJ)
HGVS:: NC_000006.12:g.90571983A>G, NC_000006.11:g.91281702A>G, NG_011966.2:g.20206T>C

Select item 1252962216.

rs12529622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:90553196 (GRCh38)
6:91262915 (GRCh37)
Canonical SPDI:: NC_000006.12:90553195:C:T
Gene:: MAP3K7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.076004/2278 (ALFA)
T=0.019849/58 (KOREAN)
T=0.022532/163 (Korea4K)
T=0.023585/5 (Vietnamese)
T=0.027778/6 (Qatari)
T=0.03489/2702 (TOMMO)
T=0.03681/12 (HapMap)
T=0.062054/278 (Estonian)
T=0.064896/325 (1000Genomes)
T=0.064959/416 (1000Genomes_30X)
T=0.070795/10554 (GnomAD_genomes)
T=0.071397/18898 (TOPMED)
T=0.073171/282 (ALSPAC)
T=0.075512/280 (TWINSUK)
T=0.084168/84 (GoNL)
T=0.086667/52 (NorthernSweden)
T=0.125/5 (GENOME_DK)
C=0.486111/35 (SGDP_PRJ)
C=0.5/8 (Siberian)
HGVS:: NC_000006.12:g.90553196C>T, NC_000006.11:g.91262915C>T, NG_011966.2:g.38993G>A

Select item 1688314817.

rs16883148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:90561828 (GRCh38)
6:91271547 (GRCh37)
Canonical SPDI:: NC_000006.12:90561827:G:A
Gene:: MAP3K7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.011511/1537 (ALFA)
A=0.000223/1 (Estonian)
A=0.000259/1 (ALSPAC)
A=0.000809/3 (TWINSUK)
A=0.004673/1 (Vietnamese)
A=0.010917/20 (Korea1K)
A=0.011294/33 (KOREAN)
A=0.011618/84 (Korea4K)
A=0.013558/1050 (TOMMO)
A=0.040032/5971 (GnomAD_genomes)
A=0.042332/212 (1000Genomes)
A=0.044503/285 (1000Genomes_30X)
A=0.045045/11923 (TOPMED)
A=0.055556/12 (Qatari)
A=0.08323/134 (HapMap)
G=0.447368/17 (SGDP_PRJ)
HGVS:: NC_000006.12:g.90561828G>A, NC_000006.11:g.91271547G>A, NG_011966.2:g.30361C>T

Select item 3407811918.

rs34078119 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 6:90568315 (GRCh38)
6:91278034 (GRCh37)
Canonical SPDI:: NC_000006.12:90568314:TTT:TT,NC_000006.12:90568314:TTT:TTTT
Gene:: MAP3K7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.073758/1366 (ALFA)
-=0.022394/162 (Korea4K)
-=0.028302/6 (Vietnamese)
-=0.034892/2702 (TOMMO)
-=0.062054/278 (Estonian)
-=0.064297/322 (1000Genomes)
-=0.070538/10526 (GnomAD_genomes)
-=0.071196/18845 (TOPMED)
-=0.073949/285 (ALSPAC)
-=0.075512/280 (TWINSUK)
-=0.084168/84 (GoNL)
-=0.086667/52 (NorthernSweden)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000006.12:g.90568317del, NC_000006.12:g.90568317dup, NC_000006.11:g.91278036del, NC_000006.11:g.91278036dup, NG_011966.2:g.23874del, NG_011966.2:g.23874dup

Select item 3424712319.

rs34247123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:90548027 (GRCh38)
6:91257746 (GRCh37)
Canonical SPDI:: NC_000006.12:90548026:C:G
Gene:: MAP3K7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0061702/172 (ALFA)
G=0.0015974/8 (1000Genomes)
G=0.0016667/1 (NorthernSweden)
G=0.0017177/11 (1000Genomes_30X)
G=0.0018727/1 (MGP)
G=0.0023352/9 (ALSPAC)
G=0.0026597/704 (TOPMED)
G=0.0032362/12 (TWINSUK)
G=0.0032895/1 (FINRISK)
G=0.0033072/43 (GoESP)
G=0.0037457/559 (GnomAD_genomes)
G=0.0038109/5283 (GnomAD_exomes)
G=0.0039539/463 (ExAC)
G=0.006012/6 (GoNL)
G=0.0247768/111 (Estonian)
HGVS:: NC_000006.12:g.90548027C>G, NC_000006.11:g.91257746C>G, NG_011966.2:g.44162G>C

Select item 3443736420.

rs34437364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:90548485 (GRCh38)
6:91258204 (GRCh37)
Canonical SPDI:: NC_000006.12:90548484:T:C
Gene:: MAP3K7 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.076188/2351 (ALFA)
C=0.019849/58 (KOREAN)
C=0.022281/161 (Korea4K)
C=0.027778/6 (Qatari)
C=0.034869/2700 (TOMMO)
C=0.037037/8 (Vietnamese)
C=0.062054/278 (Estonian)
C=0.064497/323 (1000Genomes)
C=0.064647/414 (1000Genomes_30X)
C=0.07063/10531 (GnomAD_genomes)
C=0.071196/18845 (TOPMED)
C=0.07343/283 (ALSPAC)
C=0.075512/280 (TWINSUK)
C=0.083166/83 (GoNL)
C=0.086667/52 (NorthernSweden)
C=0.125/5 (GENOME_DK)
T=0.486111/35 (SGDP_PRJ)
T=0.5/8 (Siberian)
HGVS:: NC_000006.12:g.90548485T>C, NC_000006.11:g.91258204T>C, NG_011966.2:g.43704A>G

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