(SSBP3-AS1[gene]) Homo sapiens[organism] - SNP

Search results

Items: 1 to 20 of 2286

<< First< Prev

Page of 115

Next >Last >>

Select item 6446601.

rs644660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:54237525 (GRCh38)
1:54703198 (GRCh37)
Canonical SPDI:: NC_000001.11:54237524:T:A
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.44703/8279 (ALFA)
T=0.276549/125 (SGDP_PRJ)
A=0.33024/605 (Korea1K)
A=0.346416/1015 (KOREAN)
A=0.352573/5909 (TOMMO)
T=0.405372/2030 (1000Genomes)
T=0.40625/13 (Siberian)
T=0.434693/115059 (TOPMED)
T=0.435036/60691 (GnomAD)
T=0.460123/150 (HapMap)
T=0.464286/2080 (Estonian)
T=0.490741/106 (Qatari)
T=0.496667/298 (NorthernSweden)
HGVS:: NC_000001.11:g.54237525T>A, NC_000001.10:g.54703198T>A, NR_103541.1:n.1083T>A

Select item 6599392.

rs659939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:54236472 (GRCh38)
1:54702145 (GRCh37)
Canonical SPDI:: NC_000001.11:54236471:G:C
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.01837/347 (ALFA)
C=0./0 (HapMap)
C=0./0 (TWINSUK)
C=0.000223/1 (Estonian)
C=0.000778/3 (ALSPAC)
C=0.009259/2 (Qatari)
C=0.032492/4553 (GnomAD)
C=0.033216/8792 (TOPMED)
C=0.03732/187 (1000Genomes)
G=0.454545/10 (SGDP_PRJ)
HGVS:: NC_000001.11:g.54236472G>C, NC_000001.10:g.54702145G>C, NR_103541.1:n.30G>C

Select item 6600123.

rs660012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:54236413 (GRCh38)
1:54702086 (GRCh37)
Canonical SPDI:: NC_000001.11:54236412:G:A
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.091689/1732 (ALFA)
A=0.025/1 (GENOME_DK)
A=0.028629/480 (TOMMO)
A=0.037037/8 (Vietnamese)
A=0.04476/82 (Korea1K)
A=0.048255/141 (KOREAN)
A=0.0501/50 (GoNL)
A=0.050856/196 (ALSPAC)
A=0.056904/211 (TWINSUK)
A=0.058333/35 (NorthernSweden)
A=0.060185/13 (Qatari)
A=0.085938/385 (Estonian)
A=0.11389/15956 (GnomAD)
A=0.118025/31240 (TOPMED)
A=0.160212/802 (1000Genomes)
G=0.458904/67 (SGDP_PRJ)
G=0.5/4 (Siberian)
HGVS:: NC_000001.11:g.54236413G>A, NC_000001.10:g.54702086G>A

Select item 6600134.

rs660013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:54236411 (GRCh38)
1:54702084 (GRCh37)
Canonical SPDI:: NC_000001.11:54236410:G:A,NC_000001.11:54236410:G:T
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001665/23 (ALFA)
A=0./0 (TWINSUK)
A=0.000119/2 (TOMMO)
A=0.000778/3 (ALSPAC)
A=0.009259/2 (Qatari)
A=0.033209/8790 (TOPMED)
A=0.03732/187 (1000Genomes)
G=0.454545/10 (SGDP_PRJ)
HGVS:: NC_000001.11:g.54236411G>A, NC_000001.11:g.54236411G>T, NC_000001.10:g.54702084G>A, NC_000001.10:g.54702084G>T

Select item 6646965.

rs664696 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:54237524 (GRCh38)
1:54703197 (GRCh37)
Canonical SPDI:: NC_000001.11:54237523:A:C
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.443743/8511 (ALFA)
A=0.276549/125 (SGDP_PRJ)
C=0.33024/605 (Korea1K)
C=0.345734/1013 (KOREAN)
C=0.352573/5909 (TOMMO)
A=0.405372/2030 (1000Genomes)
A=0.40625/13 (Siberian)
A=0.422366/33236 (PAGE_STUDY)
A=0.434712/115064 (TOPMED)
A=0.434887/60652 (GnomAD)
A=0.464286/2080 (Estonian)
A=0.490741/106 (Qatari)
A=0.496667/298 (NorthernSweden)
HGVS:: NC_000001.11:g.54237524A>C, NC_000001.10:g.54703197A>C, NR_103541.1:n.1082A>C

Select item 6869306.

rs686930 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:54235034 (GRCh38)
1:54700707 (GRCh37)
Canonical SPDI:: NC_000001.11:54235033:A:G,NC_000001.11:54235033:A:T
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.429483/99580 (ALFA)
G=0.001873/1 (MGP)
A=0.2125/102 (SGDP_PRJ)
A=0.263158/10 (Siberian)
A=0.324797/1627 (1000Genomes)
A=0.336137/26452 (PAGE_STUDY)
A=0.338983/640 (HapMap)
A=0.359953/95276 (TOPMED)
A=0.360825/50535 (GnomAD)
A=0.369962/771 (HGDP_Stanford)
G=0.375/24 (PRJEB36033)
A=0.396794/396 (GoNL)
A=0.402902/1805 (Estonian)
A=0.42/252 (NorthernSweden)
A=0.425013/1638 (ALSPAC)
A=0.437972/1624 (TWINSUK)
G=0.440052/7375 (TOMMO)
A=0.453704/98 (Qatari)
G=0.471616/864 (Korea1K)
G=0.475/19 (GENOME_DK)
G=0.481481/104 (Vietnamese)
G=0.489761/1435 (KOREAN)
A=0.493404/374 (PRJEB37584)
HGVS:: NC_000001.11:g.54235034A>G, NC_000001.11:g.54235034A>T, NC_000001.10:g.54700707A>G, NC_000001.10:g.54700707A>T

Select item 6882597.

rs688259 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:54234763 (GRCh38)
1:54700436 (GRCh37)
Canonical SPDI:: NC_000001.11:54234762:T:A,NC_000001.11:54234762:T:C
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.300989/2953 (ALFA)
A=0.260917/478 (Korea1K)
A=0.282594/828 (KOREAN)
A=0.30632/5134 (TOMMO)
T=0.344388/135 (SGDP_PRJ)
A=0.4/16 (GENOME_DK)
T=0.428571/12 (Siberian)
A=0.437288/258 (NorthernSweden)
A=0.451726/1675 (TWINSUK)
A=0.453704/98 (Qatari)
A=0.467936/467 (GoNL)
A=0.469706/2352 (1000Genomes)
A=0.477748/126455 (TOPMED)
A=0.478723/1845 (ALSPAC)
HGVS:: NC_000001.11:g.54234763T>A, NC_000001.11:g.54234763T>C, NC_000001.10:g.54700436T>A, NC_000001.10:g.54700436T>C

Select item 9464438.

rs946443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:54238029 (GRCh38)
1:54703702 (GRCh37)
Canonical SPDI:: NC_000001.11:54238028:C:A
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.063287/2813 (ALFA)
A=0.025/15 (NorthernSweden)
A=0.036072/36 (GoNL)
A=0.037037/8 (Vietnamese)
A=0.041667/9 (Qatari)
A=0.046705/180 (ALSPAC)
A=0.050162/186 (TWINSUK)
A=0.052434/28 (MGP)
A=0.065928/1105 (TOMMO)
A=0.069323/127 (Korea1K)
A=0.069473/203 (KOREAN)
A=0.069866/313 (Estonian)
A=0.074037/10378 (GnomAD)
A=0.074427/78 (HapMap)
A=0.081839/21662 (TOPMED)
A=0.086006/8828 (GnomAD_exomes)
A=0.103863/8174 (PAGE_STUDY)
A=0.11116/751 (ExAC)
A=0.116334/583 (1000Genomes)
A=0.169329/106 (Chileans)
C=0.462963/50 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000001.11:g.54238029C>A, NC_000001.10:g.54703702C>A, NR_103541.1:n.1587C>A

Select item 22746629.

rs2274662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:54238837 (GRCh38)
1:54704510 (GRCh37)
Canonical SPDI:: NC_000001.11:54238836:A:C
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.356575/10499 (ALFA)
A=0.193227/97 (SGDP_PRJ)
A=0.220539/3696 (TOMMO)
A=0.227273/10 (Siberian)
C=0.235955/126 (MGP)
A=0.263609/20717 (PAGE_STUDY)
A=0.264164/774 (KOREAN)
A=0.289663/1451 (1000Genomes)
A=0.291667/63 (Qatari)
A=0.308411/66 (Vietnamese)
A=0.315682/83558 (TOPMED)
A=0.324994/45451 (GnomAD)
A=0.336673/336 (GoNL)
A=0.376667/226 (NorthernSweden)
A=0.377009/1689 (Estonian)
A=0.385314/1485 (ALSPAC)
A=0.403452/1496 (TWINSUK)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000001.11:g.54238837A>C, NC_000001.10:g.54704510A>C, NR_103541.1:n.2395A>C, NM_001034847.1:c.*468A>C

Select item 227466310.

rs2274663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:54238890 (GRCh38)
1:54704563 (GRCh37)
Canonical SPDI:: NC_000001.11:54238889:G:A,NC_000001.11:54238889:G:T
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.141064/3743 (ALFA)
A=0.003745/2 (MGP)
A=0.115741/25 (Qatari)
A=0.168337/168 (GoNL)
A=0.18096/671 (TWINSUK)
A=0.188376/726 (ALSPAC)
A=0.200446/898 (Estonian)
A=0.206667/124 (NorthernSweden)
A=0.212297/56193 (TOPMED)
A=0.224547/1125 (1000Genomes)
A=0.236597/18527 (PAGE_STUDY)
A=0.25/10 (GENOME_DK)
A=0.339621/5692 (TOMMO)
G=0.366667/11 (Siberian)
A=0.398472/730 (Korea1K)
A=0.40123/1174 (KOREAN)
G=0.441176/105 (SGDP_PRJ)
HGVS:: NC_000001.11:g.54238890G>A, NC_000001.11:g.54238890G>T, NC_000001.10:g.54704563G>A, NC_000001.10:g.54704563G>T, NR_103541.1:n.2448G>A, NR_103541.1:n.2448G>T, NM_001034847.1:c.*521G>A, NM_001034847.1:c.*521G>T

Select item 227466411.

rs2274664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:54238956 (GRCh38)
1:54704629 (GRCh37)
Canonical SPDI:: NC_000001.11:54238955:C:T
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.38596/16543 (ALFA)
C=0.198795/99 (SGDP_PRJ)
C=0.216682/3632 (TOMMO)
C=0.261905/11 (Siberian)
C=0.277322/812 (KOREAN)
C=0.289194/1448 (1000Genomes)
C=0.289502/546 (HapMap)
C=0.33897/89722 (TOPMED)
C=0.341121/73 (Vietnamese)
C=0.349648/48857 (GnomAD)
C=0.365741/79 (Qatari)
C=0.371743/371 (GoNL)
C=0.386667/232 (NorthernSweden)
C=0.42138/1624 (ALSPAC)
T=0.425/17 (GENOME_DK)
C=0.432848/1605 (TWINSUK)
C=0.445536/1996 (Estonian)
T=0.496255/265 (MGP)
HGVS:: NC_000001.11:g.54238956C>T, NC_000001.10:g.54704629C>T, NR_103541.1:n.2514C>T, NM_001034847.1:c.*587C>T

Select item 376644712.

rs3766447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:54238202 (GRCh38)
1:54703875 (GRCh37)
Canonical SPDI:: NC_000001.11:54238201:C:T
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000082/3 (ALFA)
T=0.000057/8 (GnomAD)
T=0.000064/17 (TOPMED)
T=0.000123/2 (ExAC)
T=0.000208/31 (GnomAD_exomes)
T=0.000625/3 (1000Genomes)
T=0.001369/4 (KOREAN)
T=0.001638/3 (Korea1K)
T=0.001667/1 (NorthernSweden)
T=0.006971/117 (TOMMO)
T=0.017442/3 (HapMap)
HGVS:: NC_000001.11:g.54238202C>T, NC_000001.10:g.54703875C>T, NR_103541.1:n.1760C>T, NM_001034847.1:c.136C>T

Select item 376644813.

rs3766448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:54238095 (GRCh38)
1:54703768 (GRCh37)
Canonical SPDI:: NC_000001.11:54238094:G:A
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.014037/943 (ALFA)
A=0.005618/3 (MGP)
A=0.00625/28 (Estonian)
A=0.00639/4 (Chileans)
A=0.009018/9 (GoNL)
A=0.010787/40 (TWINSUK)
A=0.010898/42 (ALSPAC)
A=0.014663/2169 (GnomAD_exomes)
A=0.016123/242 (ExAC)
A=0.019189/2692 (GnomAD)
A=0.021149/5598 (TOPMED)
A=0.023148/5 (Qatari)
A=0.024978/1963 (PAGE_STUDY)
A=0.026667/16 (NorthernSweden)
A=0.030294/152 (1000Genomes)
A=0.04834/810 (TOMMO)
A=0.054415/159 (KOREAN)
A=0.056223/103 (Korea1K)
A=0.061839/117 (HapMap)
A=0.071429/15 (Vietnamese)
G=0.5/1 (Siberian)
G=0.5/17 (SGDP_PRJ)
HGVS:: NC_000001.11:g.54238095G>A, NC_000001.10:g.54703768G>A, NR_103541.1:n.1653G>A, NM_001034847.1:c.29G>A

Select item 376645114.

rs3766451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:54237332 (GRCh38)
1:54703005 (GRCh37)
Canonical SPDI:: NC_000001.11:54237331:G:A,NC_000001.11:54237331:G:C
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000642/12 (ALFA)
C=0./0 (TWINSUK)
C=0.000259/1 (ALSPAC)
C=0.000893/4 (Estonian)
C=0.016514/4371 (TOPMED)
C=0.049344/247 (1000Genomes)
C=0.199782/366 (Korea1K)
C=0.200341/587 (KOREAN)
C=0.214953/46 (Vietnamese)
C=0.286158/4796 (TOMMO)
G=0.479167/23 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000001.11:g.54237332G>A, NC_000001.11:g.54237332G>C, NC_000001.10:g.54703005G>A, NC_000001.10:g.54703005G>C, NR_103541.1:n.890G>A, NR_103541.1:n.890G>C

Select item 376645215.

rs3766452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:54237331 (GRCh38)
1:54703004 (GRCh37)
Canonical SPDI:: NC_000001.11:54237330:C:T
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.049569/1530 (ALFA)
T=0.032407/7 (Qatari)
T=0.041515/160 (ALSPAC)
T=0.047735/177 (TWINSUK)
T=0.05/2 (GENOME_DK)
T=0.052466/7354 (GnomAD)
T=0.056103/14850 (TOPMED)
T=0.059598/267 (Estonian)
T=0.059806/300 (1000Genomes)
T=0.07/42 (NorthernSweden)
T=0.076152/76 (GoNL)
T=0.084112/18 (Vietnamese)
T=0.104997/1760 (TOMMO)
T=0.107143/6 (PRJEB36033)
T=0.16314/478 (KOREAN)
T=0.163755/300 (Korea1K)
C=0.428571/6 (Siberian)
C=0.45/36 (SGDP_PRJ)
HGVS:: NC_000001.11:g.54237331C>T, NC_000001.10:g.54703004C>T, NR_103541.1:n.889C>T

Select item 376645316.

rs3766453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:54237196 (GRCh38)
1:54702869 (GRCh37)
Canonical SPDI:: NC_000001.11:54237195:T:C
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.199197/29707 (ALFA)
C=0.07619/16 (Vietnamese)
C=0.083333/8 (PRJEB36033)
C=0.085699/157 (Korea1K)
C=0.090691/265 (KOREAN)
C=0.117807/1974 (TOMMO)
C=0.166134/104 (Chileans)
C=0.175/7 (GENOME_DK)
C=0.202906/782 (ALSPAC)
C=0.203704/44 (Qatari)
C=0.205/123 (NorthernSweden)
C=0.207254/54858 (TOPMED)
C=0.209302/396 (HapMap)
C=0.210616/29509 (GnomAD)
C=0.21548/799 (TWINSUK)
C=0.228795/1025 (Estonian)
C=0.229459/229 (GoNL)
C=0.250625/1255 (1000Genomes)
T=0.415966/99 (SGDP_PRJ)
T=0.5/8 (Siberian)
HGVS:: NC_000001.11:g.54237196T>C, NC_000001.10:g.54702869T>C, NR_103541.1:n.754T>C

Select item 376645417.

rs3766454 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:54236717 (GRCh38)
1:54702390 (GRCh37)
Canonical SPDI:: NC_000001.11:54236716:T:C
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.011256/229 (ALFA)
C=0.002004/2 (GoNL)
C=0.002232/10 (Estonian)
C=0.002854/11 (ALSPAC)
C=0.003236/12 (TWINSUK)
C=0.016039/2250 (GnomAD)
C=0.018168/4809 (TOPMED)
C=0.023148/5 (Qatari)
C=0.031543/158 (1000Genomes)
C=0.059498/109 (Korea1K)
C=0.059548/174 (KOREAN)
C=0.06515/1092 (TOMMO)
C=0.065421/14 (Vietnamese)
C=0.075175/129 (HapMap)
T=0.5/1 (Siberian)
T=0.5/20 (SGDP_PRJ)
HGVS:: NC_000001.11:g.54236717T>C, NC_000001.10:g.54702390T>C, NR_103541.1:n.275T>C

Select item 383116818.

rs3831168 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACA,GCA [Show Flanks]
Chromosome:: 1:54238789 (GRCh38)
1:54704463 (GRCh37)
Canonical SPDI:: NC_000001.11:54238789:CA:CAACA,NC_000001.11:54238789:CA:CAGCA
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAGCA=0.418038/2540 (ALFA)
-=0.227086/3805 (TOMMO)
-=0.321362/1609 (1000Genomes)
-=0.341509/90394 (TOPMED)
-=0.353707/353 (GoNL)
-=0.368333/221 (NorthernSweden)
-=0.395952/1526 (ALSPAC)
-=0.414239/1536 (TWINSUK)
-=0.43125/1932 (Estonian)
CAG=0.45/18 (GENOME_DK)
HGVS:: NC_000001.11:g.54238791_54238792insACA, NC_000001.11:g.54238791_54238792insGCA, NC_000001.10:g.54704464_54704465insACA, NC_000001.10:g.54704464_54704465insGCA, NR_103541.1:n.2349_2350insACA, NR_103541.1:n.2349_2350insGCA, NM_001034847.1:c.*422_*423insACA, NM_001034847.1:c.*422_*423insGCA

Select item 1012774019.

rs10127740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:54236552 (GRCh38)
1:54702225 (GRCh37)
Canonical SPDI:: NC_000001.11:54236551:G:T
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.300826/6484 (ALFA)
T=0./0 (HapMap)
T=0.117241/1965 (TOMMO)
T=0.138646/254 (Korea1K)
T=0.148464/435 (KOREAN)
T=0.214953/46 (Vietnamese)
T=0.241568/1210 (1000Genomes)
T=0.25/10 (GENOME_DK)
T=0.263889/57 (Qatari)
T=0.274752/72724 (TOPMED)
T=0.279436/39154 (GnomAD)
T=0.300971/1116 (TWINSUK)
T=0.301667/181 (NorthernSweden)
T=0.304609/304 (GoNL)
T=0.308929/1384 (Estonian)
T=0.331344/1277 (ALSPAC)
G=0.430435/99 (SGDP_PRJ)
G=0.45/9 (Siberian)
HGVS:: NC_000001.11:g.54236552G>T, NC_000001.10:g.54702225G>T, NR_103541.1:n.110G>T

Select item 1120631220.

rs11206312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:54238894 (GRCh38)
1:54704567 (GRCh37)
Canonical SPDI:: NC_000001.11:54238893:A:C,NC_000001.11:54238893:A:G,NC_000001.11:54238893:A:T
Gene:: SSBP3 (Varview), SSBP3-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.055056/1040 (ALFA)
C=0./0 (KOREAN)
A=0./0 (Siberian)
A=0.000142/2 (TOMMO)
A=0.000546/1 (Korea1K)
G=0.001873/1 (MGP)
A=0.004762/1 (Vietnamese)
A=0.019784/11 (SGDP_PRJ)
A=0.020612/103 (1000Genomes)
A=0.041667/9 (Qatari)
A=0.042869/11347 (TOPMED)
A=0.044331/6212 (GnomAD)
A=0.058259/261 (Estonian)
A=0.06012/60 (GoNL)
A=0.062532/241 (ALSPAC)
A=0.070119/260 (TWINSUK)
A=0.075/3 (GENOME_DK)
A=0.075/45 (NorthernSweden)
HGVS:: NC_000001.11:g.54238894A>C, NC_000001.11:g.54238894A>G, NC_000001.11:g.54238894A>T, NC_000001.10:g.54704567A>C, NC_000001.10:g.54704567A>G, NC_000001.10:g.54704567A>T, NR_103541.1:n.2452A>C, NR_103541.1:n.2452A>G, NR_103541.1:n.2452A>T, NM_001034847.1:c.*525A>C, NM_001034847.1:c.*525A>G, NM_001034847.1:c.*525A>T

<< First< Prev

Page of 115

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 1 to 20 of 2286

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity