ZNF257 - SNP

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Select item 3668491.

rs366849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:22052139 (GRCh38)
19:22234941 (GRCh37)
Canonical SPDI:: NC_000019.10:22052138:T:G
Gene:: ZNF257 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.377887/7133 (ALFA)
G=0.171296/37 (Qatari)
G=0.272315/4562 (TOMMO)
G=0.288882/1447 (1000Genomes)
G=0.318231/583 (Korea1K)
G=0.337757/89401 (TOPMED)
G=0.344541/47528 (GnomAD)
G=0.348805/1022 (KOREAN)
T=0.361111/13 (Siberian)
G=0.396104/1769 (Estonian)
T=0.400794/101 (SGDP_PRJ)
G=0.413828/413 (GoNL)
G=0.420173/1558 (TWINSUK)
T=0.425/17 (GENOME_DK)
G=0.429683/1656 (ALSPAC)
G=0.447635/265 (NorthernSweden)
HGVS:: NC_000019.10:g.22052139T>G, NC_000019.9:g.22234941T>G

Select item 3668632.

rs366863 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 19:22052126 (GRCh38)
19:22234928 (GRCh37)
Canonical SPDI:: NC_000019.10:22052125:T:A,NC_000019.10:22052125:T:C,NC_000019.10:22052125:T:G
Gene:: ZNF257 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.446258/8420 (ALFA)
G=0./0 (KOREAN)
C=0.268519/58 (Qatari)
T=0.322335/127 (SGDP_PRJ)
T=0.325/13 (Siberian)
T=0.411572/754 (Korea1K)
T=0.422937/1630 (ALSPAC)
T=0.427856/427 (GoNL)
T=0.433118/1606 (TWINSUK)
T=0.451548/2013 (Estonian)
T=0.454668/120346 (TOPMED)
T=0.457106/7659 (TOMMO)
T=0.462014/63235 (GnomAD)
T=0.490319/2456 (1000Genomes)
HGVS:: NC_000019.10:g.22052126T>A, NC_000019.10:g.22052126T>C, NC_000019.10:g.22052126T>G, NC_000019.9:g.22234928T>A, NC_000019.9:g.22234928T>C, NC_000019.9:g.22234928T>G

Select item 3672803.

rs367280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:22051986 (GRCh38)
19:22234788 (GRCh37)
Canonical SPDI:: NC_000019.10:22051985:T:C,NC_000019.10:22051985:T:G
Gene:: ZNF257 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.434082/79825 (ALFA)
G=0.268519/58 (Qatari)
T=0.3/12 (GENOME_DK)
T=0.322335/127 (SGDP_PRJ)
T=0.325/13 (Siberian)
T=0.397952/1166 (KOREAN)
T=0.401667/241 (NorthernSweden)
T=0.411026/753 (Korea1K)
T=0.415858/1542 (TWINSUK)
T=0.419045/1615 (ALSPAC)
T=0.420918/330 (PRJEB37584)
T=0.428858/428 (GoNL)
T=0.434152/1945 (Estonian)
T=0.4546/120328 (TOPMED)
T=0.456048/7643 (TOMMO)
T=0.459167/63512 (GnomAD)
T=0.478686/37507 (PAGE_STUDY)
T=0.489694/2452 (1000Genomes)
T=0.49947/943 (HapMap)
HGVS:: NC_000019.10:g.22051986T>C, NC_000019.10:g.22051986T>G, NC_000019.9:g.22234788T>C, NC_000019.9:g.22234788T>G

Select item 3871564.

rs387156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:22051648 (GRCh38)
19:22234450 (GRCh37)
Canonical SPDI:: NC_000019.10:22051647:G:A,NC_000019.10:22051647:G:T
Gene:: ZNF257 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (1000Genomes)
G=0./0 (GENOME_DK)
G=0./0 (Korea1K)
G=0./0 (NorthernSweden)
G=0./0 (Qatari)
G=0./0 (SGDP_PRJ)
G=0./0 (Siberian)
G=0.000015/2 (GnomAD)
G=0.000342/1 (KOREAN)
G=0.000425/7 (TOMMO)
HGVS:: NC_000019.10:g.22051648G>A, NC_000019.10:g.22051648G>T, NC_000019.9:g.22234450G>A, NC_000019.9:g.22234450G>T

Select item 3873155.

rs387315 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 19:22052724 (GRCh38)
19:22235526 (GRCh37)
Canonical SPDI:: NC_000019.10:22052723:T:A,NC_000019.10:22052723:T:C,NC_000019.10:22052723:T:G
Gene:: ZNF257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.268519/58 (Qatari)
T=0.275/11 (GENOME_DK)
T=0.32398/127 (SGDP_PRJ)
T=0.325/13 (Siberian)
T=0.393333/236 (NorthernSweden)
T=0.396446/1160 (KOREAN)
T=0.41048/752 (Korea1K)
T=0.419633/1556 (TWINSUK)
T=0.420083/1619 (ALSPAC)
T=0.428571/1920 (Estonian)
T=0.430862/430 (GoNL)
C=0.447566/239 (MGP)
T=0.454446/2075 (GoESP)
T=0.456469/7650 (TOMMO)
T=0.458827/121447 (TOPMED)
T=0.459024/64256 (GnomAD)
T=0.487805/160 (HapMap)
T=0.492349/2466 (1000Genomes)
T=0.5/108 (Vietnamese)
HGVS:: NC_000019.10:g.22052724T>A, NC_000019.10:g.22052724T>C, NC_000019.10:g.22052724T>G, NC_000019.9:g.22235526T>A, NC_000019.9:g.22235526T>C, NC_000019.9:g.22235526T>G

Select item 3873436.

rs387343 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 19:22052689 (GRCh38)
19:22235491 (GRCh37)
Canonical SPDI:: NC_000019.10:22052688:T:A,NC_000019.10:22052688:T:C,NC_000019.10:22052688:T:G
Gene:: ZNF257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.425142/4055 (ALFA)
G=0.268519/58 (Qatari)
T=0.275/11 (GENOME_DK)
T=0.324873/128 (SGDP_PRJ)
T=0.325/13 (Siberian)
T=0.393333/236 (NorthernSweden)
T=0.395833/1159 (KOREAN)
T=0.41048/752 (Korea1K)
T=0.419633/1556 (TWINSUK)
T=0.419824/1618 (ALSPAC)
T=0.428571/1920 (Estonian)
T=0.428858/428 (GoNL)
T=0.43633/233 (MGP)
T=0.440559/126 (HapMap)
T=0.455765/7639 (TOMMO)
T=0.458994/121491 (TOPMED)
T=0.492661/2467 (1000Genomes)
G=0.49537/107 (Vietnamese)
HGVS:: NC_000019.10:g.22052689T>A, NC_000019.10:g.22052689T>C, NC_000019.10:g.22052689T>G, NC_000019.9:g.22235491T>A, NC_000019.9:g.22235491T>C, NC_000019.9:g.22235491T>G

Select item 3907307.

rs390730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:22050707 (GRCh38)
19:22233509 (GRCh37)
Canonical SPDI:: NC_000019.10:22050706:C:A
Gene:: ZNF257 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.276946/43629 (ALFA)
C=0.2/94 (SGDP_PRJ)
C=0.213333/128 (NorthernSweden)
C=0.219985/30782 (GnomAD)
C=0.222177/58808 (TOPMED)
C=0.225/9 (GENOME_DK)
C=0.236786/448 (HapMap)
C=0.247658/1240 (1000Genomes)
C=0.25/13 (Siberian)
C=0.266741/1195 (Estonian)
C=0.267774/1032 (ALSPAC)
C=0.279935/1038 (TWINSUK)
C=0.280561/280 (GoNL)
C=0.311263/912 (KOREAN)
C=0.324074/70 (Vietnamese)
C=0.330786/606 (Korea1K)
C=0.368568/6177 (TOMMO)
C=0.435185/94 (Qatari)
HGVS:: NC_000019.10:g.22050707C>A, NC_000019.9:g.22233509C>A

Select item 4083128.

rs408312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:22052775 (GRCh38)
19:22235577 (GRCh37)
Canonical SPDI:: NC_000019.10:22052774:C:A,NC_000019.10:22052774:C:G,NC_000019.10:22052774:C:T
Gene:: ZNF257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.447374/8484 (ALFA)
G=0./0 (KOREAN)
T=0.157303/84 (MGP)
T=0.268519/58 (Qatari)
C=0.275/11 (GENOME_DK)
C=0.323077/126 (SGDP_PRJ)
C=0.325/13 (Siberian)
C=0.393333/236 (NorthernSweden)
C=0.411475/753 (Korea1K)
C=0.416667/1545 (TWINSUK)
C=0.419045/1615 (ALSPAC)
C=0.428795/1921 (Estonian)
C=0.456296/7648 (TOMMO)
C=0.463083/64776 (GnomAD)
C=0.464173/122862 (TOPMED)
T=0.490654/105 (Vietnamese)
C=0.497345/2491 (1000Genomes)
C=0.5/163 (HapMap)
HGVS:: NC_000019.10:g.22052775C>A, NC_000019.10:g.22052775C>G, NC_000019.10:g.22052775C>T, NC_000019.9:g.22235577C>A, NC_000019.9:g.22235577C>G, NC_000019.9:g.22235577C>T

Select item 4152919.

rs415291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:22052505 (GRCh38)
19:22235307 (GRCh37)
Canonical SPDI:: NC_000019.10:22052504:C:G,NC_000019.10:22052504:C:T
Gene:: ZNF257 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.449077/4718 (ALFA)
G=0.268519/58 (Qatari)
C=0.3/12 (GENOME_DK)
C=0.324873/128 (SGDP_PRJ)
C=0.325/13 (Siberian)
C=0.393333/236 (NorthernSweden)
C=0.397952/1166 (KOREAN)
C=0.41048/752 (Korea1K)
C=0.416667/1545 (TWINSUK)
C=0.419045/1615 (ALSPAC)
C=0.428571/1920 (Estonian)
C=0.428858/428 (GoNL)
C=0.438202/234 (MGP)
G=0.448598/96 (Vietnamese)
C=0.455659/7637 (TOMMO)
C=0.458869/121458 (TOPMED)
C=0.458945/64233 (GnomAD)
C=0.481366/155 (HapMap)
C=0.492817/2468 (1000Genomes)
HGVS:: NC_000019.10:g.22052505C>G, NC_000019.10:g.22052505C>T, NC_000019.9:g.22235307C>G, NC_000019.9:g.22235307C>T, NM_033468.4:c.-128C>G, NM_033468.4:c.-128C>T, NM_033468.3:c.-128C>G, NM_033468.3:c.-128C>T, NM_033468.2:c.-128C>G, NM_033468.2:c.-128C>T, NM_001316996.2:c.-345C>G, NM_001316996.2:c.-345C>T, NM_001316996.1:c.-345C>G, NM_001316996.1:c.-345C>T, NM_001316997.2:c.-421C>G, NM_001316997.2:c.-421C>T, NM_001316997.1:c.-421C>G, NM_001316997.1:c.-421C>T, NM_001316998.2:c.-133C>G, NM_001316998.2:c.-133C>T, NM_001316998.1:c.-133C>G, NM_001316998.1:c.-133C>T, XM_047438121.1:c.-193C>G, XM_047438121.1:c.-193C>T

Select item 41631210.

rs416312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:22052136 (GRCh38)
19:22234938 (GRCh37)
Canonical SPDI:: NC_000019.10:22052135:C:A,NC_000019.10:22052135:C:G,NC_000019.10:22052135:C:T
Gene:: ZNF257 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.268519/58 (Qatari)
C=0.3/12 (GENOME_DK)
C=0.322335/127 (SGDP_PRJ)
C=0.325/13 (Siberian)
C=0.397611/1165 (KOREAN)
C=0.411572/754 (Korea1K)
C=0.422937/1630 (ALSPAC)
C=0.427856/427 (GoNL)
C=0.433387/1607 (TWINSUK)
C=0.449481/1993 (Estonian)
C=0.45469/120352 (TOPMED)
C=0.457033/7656 (TOMMO)
C=0.457702/62241 (GnomAD)
C=0.490319/2456 (1000Genomes)
HGVS:: NC_000019.10:g.22052136C>A, NC_000019.10:g.22052136C>G, NC_000019.10:g.22052136C>T, NC_000019.9:g.22234938C>A, NC_000019.9:g.22234938C>G, NC_000019.9:g.22234938C>T

Select item 41706611.

rs417066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:22051787 (GRCh38)
19:22234589 (GRCh37)
Canonical SPDI:: NC_000019.10:22051786:C:T
Gene:: ZNF257 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.441279/8334 (ALFA)
T=0.268519/58 (Qatari)
C=0.3/12 (GENOME_DK)
C=0.324873/128 (SGDP_PRJ)
C=0.325/13 (Siberian)
C=0.392977/235 (NorthernSweden)
C=0.395563/1159 (KOREAN)
C=0.41048/752 (Korea1K)
C=0.417206/1547 (TWINSUK)
C=0.418007/1611 (ALSPAC)
C=0.428858/428 (GoNL)
C=0.430773/1929 (Estonian)
C=0.454588/120325 (TOPMED)
C=0.454833/63311 (GnomAD)
C=0.457914/7675 (TOMMO)
T=0.459596/91 (Vietnamese)
C=0.489382/2451 (1000Genomes)
HGVS:: NC_000019.10:g.22051787C>T, NC_000019.9:g.22234589C>T

Select item 41733112.

rs417331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:22051676 (GRCh38)
19:22234478 (GRCh37)
Canonical SPDI:: NC_000019.10:22051675:C:G,NC_000019.10:22051675:C:T
Gene:: ZNF257 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.381303/7199 (ALFA)
T=0.171296/37 (Qatari)
T=0.27/54 (Vietnamese)
T=0.289194/1448 (1000Genomes)
T=0.318033/582 (Korea1K)
T=0.337557/89348 (TOPMED)
T=0.348123/1020 (KOREAN)
C=0.361111/13 (Siberian)
T=0.363351/47030 (GnomAD)
C=0.4/100 (SGDP_PRJ)
C=0.4/16 (GENOME_DK)
T=0.409213/1830 (Estonian)
T=0.434873/1676 (ALSPAC)
T=0.437163/1621 (TWINSUK)
T=0.477816/280 (NorthernSweden)
HGVS:: NC_000019.10:g.22051676C>G, NC_000019.10:g.22051676C>T, NC_000019.9:g.22234478C>G, NC_000019.9:g.22234478C>T

Select item 42392613.

rs423926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:22052818 (GRCh38)
19:22235620 (GRCh37)
Canonical SPDI:: NC_000019.10:22052817:G:A,NC_000019.10:22052817:G:C
Gene:: ZNF257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.445791/8421 (ALFA)
C=0.263889/57 (Qatari)
G=0.275/11 (GENOME_DK)
G=0.323077/126 (SGDP_PRJ)
G=0.325/13 (Siberian)
G=0.393333/236 (NorthernSweden)
G=0.397471/1163 (KOREAN)
G=0.41048/752 (Korea1K)
G=0.416127/1543 (TWINSUK)
G=0.416667/50 (HapMap)
G=0.418786/1614 (ALSPAC)
G=0.429018/1922 (Estonian)
G=0.456225/7646 (TOMMO)
G=0.46506/65047 (GnomAD)
G=0.465163/123124 (TOPMED)
C=0.480952/101 (Vietnamese)
G=0.498751/2498 (1000Genomes)
HGVS:: NC_000019.10:g.22052818G>A, NC_000019.10:g.22052818G>C, NC_000019.9:g.22235620G>A, NC_000019.9:g.22235620G>C

Select item 42446014.

rs424460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:22050890 (GRCh38)
19:22233692 (GRCh37)
Canonical SPDI:: NC_000019.10:22050889:C:G,NC_000019.10:22050889:C:T
Gene:: ZNF257 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.440498/8321 (ALFA)
T=0.268519/58 (Qatari)
C=0.3/12 (GENOME_DK)
C=0.322335/127 (SGDP_PRJ)
C=0.325/13 (Siberian)
C=0.393333/236 (NorthernSweden)
C=0.396587/1162 (KOREAN)
C=0.41048/752 (Korea1K)
C=0.416127/1543 (TWINSUK)
C=0.418267/1612 (ALSPAC)
C=0.428795/1921 (Estonian)
C=0.428858/428 (GoNL)
C=0.454524/120308 (TOPMED)
C=0.454674/63577 (GnomAD)
C=0.455552/7635 (TOMMO)
T=0.46729/100 (Vietnamese)
C=0.489225/2450 (1000Genomes)
HGVS:: NC_000019.10:g.22050890C>G, NC_000019.10:g.22050890C>T, NC_000019.9:g.22233692C>G, NC_000019.9:g.22233692C>T

Select item 42446515.

rs424465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:22050876 (GRCh38)
19:22233678 (GRCh37)
Canonical SPDI:: NC_000019.10:22050875:C:G,NC_000019.10:22050875:C:T
Gene:: ZNF257 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.450634/4692 (ALFA)
T=0.268519/58 (Qatari)
C=0.3/12 (GENOME_DK)
C=0.322335/127 (SGDP_PRJ)
C=0.325/13 (Siberian)
C=0.393333/236 (NorthernSweden)
C=0.396587/1162 (KOREAN)
C=0.41048/752 (Korea1K)
C=0.416127/1543 (TWINSUK)
C=0.418267/1612 (ALSPAC)
C=0.428571/1920 (Estonian)
C=0.428858/428 (GoNL)
C=0.45452/120307 (TOPMED)
C=0.455588/7636 (TOMMO)
T=0.467593/101 (Vietnamese)
C=0.489225/2450 (1000Genomes)
HGVS:: NC_000019.10:g.22050876C>G, NC_000019.10:g.22050876C>T, NC_000019.9:g.22233678C>G, NC_000019.9:g.22233678C>T

Select item 44010216.

rs440102 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:22050966 (GRCh38)
19:22233768 (GRCh37)
Canonical SPDI:: NC_000019.10:22050965:A:C,NC_000019.10:22050965:A:G
Gene:: ZNF257 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.425757/4020 (ALFA)
A=0./0 (HapMap)
G=0.268519/58 (Qatari)
A=0.3/12 (GENOME_DK)
A=0.322335/127 (SGDP_PRJ)
A=0.325/13 (Siberian)
A=0.351351/26 (PRJEB36033)
A=0.393333/236 (NorthernSweden)
A=0.396246/1161 (KOREAN)
A=0.41048/752 (Korea1K)
A=0.429241/1923 (Estonian)
A=0.42986/429 (GoNL)
A=0.454619/120333 (TOPMED)
A=0.455552/7635 (TOMMO)
G=0.476636/102 (Vietnamese)
A=0.489225/2450 (1000Genomes)
HGVS:: NC_000019.10:g.22050966A>C, NC_000019.10:g.22050966A>G, NC_000019.9:g.22233768A>C, NC_000019.9:g.22233768A>G

Select item 197871917.

rs1978719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:22083299 (GRCh38)
19:22266101 (GRCh37)
Canonical SPDI:: NC_000019.10:22083298:G:A,NC_000019.10:22083298:G:T
Gene:: ZNF257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.141848/2069 (ALFA)
A=0.157895/6 (GENOME_DK)
A=0.21/126 (NorthernSweden)
A=0.217252/30374 (GnomAD)
A=0.219098/57993 (TOPMED)
A=0.243285/1218 (1000Genomes)
A=0.263622/1016 (ALSPAC)
A=0.265625/1190 (Estonian)
A=0.270541/270 (GoNL)
A=0.274272/1017 (TWINSUK)
A=0.301887/64 (Vietnamese)
A=0.311263/912 (KOREAN)
A=0.33024/605 (Korea1K)
G=0.344203/95 (SGDP_PRJ)
A=0.37009/6203 (TOMMO)
G=0.433333/13 (Siberian)
A=0.439815/95 (Qatari)
HGVS:: NC_000019.10:g.22083299G>A, NC_000019.10:g.22083299G>T, NC_000019.9:g.22266101G>A, NC_000019.9:g.22266101G>T

Select item 204331518.

rs2043315 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:22070021 (GRCh38)
19:22252823 (GRCh37)
Canonical SPDI:: NC_000019.10:22070020:T:A,NC_000019.10:22070020:T:C
Gene:: ZNF257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.144909/9684 (ALFA)
C=0.075/3 (GENOME_DK)
C=0.079694/146 (Korea1K)
C=0.085666/251 (KOREAN)
C=0.086949/1457 (TOMMO)
C=0.141046/523 (TWINSUK)
C=0.153866/593 (ALSPAC)
C=0.155311/155 (GoNL)
C=0.157269/32252 (GENOGRAPHIC)
C=0.16129/10 (PRJEB36033)
C=0.162054/726 (Estonian)
C=0.183333/110 (NorthernSweden)
C=0.185185/40 (Vietnamese)
C=0.203935/425 (HGDP_Stanford)
C=0.247735/65573 (TOPMED)
C=0.254528/1275 (1000Genomes)
C=0.271142/513 (HapMap)
C=0.291667/63 (Qatari)
T=0.4/8 (Siberian)
T=0.42268/82 (SGDP_PRJ)
HGVS:: NC_000019.10:g.22070021T>A, NC_000019.10:g.22070021T>C, NC_000019.9:g.22252823T>A, NC_000019.9:g.22252823T>C

Select item 204331619.

rs2043316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:22068402 (GRCh38)
19:22251204 (GRCh37)
Canonical SPDI:: NC_000019.10:22068401:C:T
Gene:: ZNF257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.202012/3816 (ALFA)
T=0.075/3 (GENOME_DK)
T=0.079694/146 (Korea1K)
T=0.084983/249 (KOREAN)
T=0.086949/1457 (TOMMO)
T=0.141046/523 (TWINSUK)
T=0.154126/594 (ALSPAC)
T=0.155311/155 (GoNL)
T=0.162054/726 (Estonian)
T=0.182243/39 (Vietnamese)
T=0.183333/110 (NorthernSweden)
T=0.241471/63915 (TOPMED)
T=0.243151/34009 (GnomAD)
T=0.248126/1243 (1000Genomes)
T=0.287037/62 (Qatari)
C=0.4/8 (Siberian)
C=0.43299/84 (SGDP_PRJ)
HGVS:: NC_000019.10:g.22068402C>T, NC_000019.9:g.22251204C>T

Select item 204331720.

rs2043317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:22068294 (GRCh38)
19:22251096 (GRCh37)
Canonical SPDI:: NC_000019.10:22068293:T:A,NC_000019.10:22068293:T:C
Gene:: ZNF257 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.191261/3515 (ALFA)
C=0.075/3 (GENOME_DK)
C=0.08024/147 (Korea1K)
C=0.085666/251 (KOREAN)
C=0.086736/1454 (TOMMO)
C=0.104762/22 (HapMap)
C=0.140507/521 (TWINSUK)
C=0.154126/594 (ALSPAC)
C=0.155311/155 (GoNL)
C=0.162054/726 (Estonian)
C=0.171296/37 (Vietnamese)
C=0.183333/110 (NorthernSweden)
C=0.241437/63906 (TOPMED)
C=0.24209/33818 (GnomAD)
C=0.248126/1243 (1000Genomes)
C=0.287037/62 (Qatari)
T=0.4/8 (Siberian)
T=0.43299/84 (SGDP_PRJ)
HGVS:: NC_000019.10:g.22068294T>A, NC_000019.10:g.22068294T>C, NC_000019.9:g.22251096T>A, NC_000019.9:g.22251096T>C

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