PSMD13 - SNP

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Select item 1436328801.

rs143632880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:236094 (GRCh38)
11:236094 (GRCh37)
Canonical SPDI:: NC_000011.10:236093:A:G
Gene:: PSMD13 (Varview), SIRT3 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.004523/222 (ALFA)
G=0.001093/5 (1000Genomes)
G=0.001667/1 (NorthernSweden)
G=0.003423/906 (TOPMED)
G=0.00386/733 (GnomAD_exomes)
G=0.003929/51 (GoESP)
G=0.004107/576 (GnomAD)
G=0.004464/20 (Estonian)
G=0.005618/3 (MGP)
G=0.007811/309 (ExAC)
G=0.008044/31 (ALSPAC)
G=0.0089/33 (TWINSUK)
A=0.5/1 (Siberian)
HGVS:: NC_000011.10:g.236094A>G, NC_000011.9:g.236094A>G, NM_012239.6:c.235T>C, NM_012239.5:c.235T>C, NR_163402.1:n.249T>C, NR_163401.1:n.249T>C, NR_163399.1:n.249T>C, NR_163396.1:n.249T>C, NM_001370310.1:c.235T>C, NM_001370312.1:c.235T>C, NM_001370314.1:c.235T>C, XR_007062467.1:n.249T>C, NP_036371.1:p.Phe79Leu, NP_001357239.1:p.Phe79Leu, NP_001357241.1:p.Phe79Leu, NP_001357243.1:p.Phe79Leu

Select item 65402.

rs6540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:252649 (GRCh38)
11:252649 (GRCh37)
Canonical SPDI:: NC_000011.10:252648:G:A,NC_000011.10:252648:G:T
Gene:: PSMD13 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.050962/13240 (ALFA)
A=0.017188/77 (Estonian)
A=0.025/1 (GENOME_DK)
A=0.029963/16 (MGP)
A=0.033441/124 (TWINSUK)
A=0.039958/154 (ALSPAC)
A=0.051282/4 (PRJEB36033)
A=0.052104/52 (GoNL)
A=0.061667/37 (NorthernSweden)
A=0.089434/1163 (GoESP)
A=0.096386/11469 (ExAC)
A=0.097222/21 (Qatari)
A=0.097673/13685 (GnomAD)
A=0.113665/30086 (TOPMED)
A=0.177077/887 (1000Genomes)
A=0.187908/14788 (PAGE_STUDY)
A=0.194888/122 (Chileans)
A=0.225159/426 (HapMap)
G=0.376238/76 (SGDP_PRJ)
A=0.404735/6783 (TOMMO)
G=0.428571/6 (Siberian)
A=0.428571/90 (Vietnamese)
A=0.459061/841 (Korea1K)
A=0.466553/1367 (KOREAN)
A=0.483376/378 (PRJEB37584)
HGVS:: NC_000011.10:g.252649G>A, NC_000011.10:g.252649G>T, NC_000011.9:g.252649G>A, NC_000011.9:g.252649G>T, NM_002817.4:c.*49G>A, NM_002817.4:c.*49G>T, NM_002817.3:c.*49G>A, NM_002817.3:c.*49G>T, XM_011520235.4:c.*49G>A, XM_011520235.4:c.*49G>T, XM_011520235.3:c.*49G>A, XM_011520235.3:c.*49G>T, XM_011520235.2:c.*49G>A, XM_011520235.2:c.*49G>T, XM_011520235.1:c.*49G>A, XM_011520235.1:c.*49G>T, NM_175932.3:c.*49G>A, NM_175932.3:c.*49G>T, NM_175932.2:c.*49G>A, NM_175932.2:c.*49G>T

Select item 65413.

rs6541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:252851 (GRCh38)
11:252851 (GRCh37)
Canonical SPDI:: NC_000011.10:252850:A:G
Gene:: PSMD13 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.206019/28199 (ALFA)
G=0.000318/5 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.001711/5 (KOREAN)
G=0.041667/9 (Qatari)
G=0.09939/163 (HapMap)
G=0.101232/115 (Daghestan)
G=0.113367/568 (1000Genomes)
G=0.116979/9206 (PAGE_STUDY)
G=0.159307/42167 (TOPMED)
G=0.177831/24907 (GnomAD)
G=0.234821/905 (ALSPAC)
G=0.237325/880 (TWINSUK)
G=0.255511/255 (GoNL)
G=0.28/168 (NorthernSweden)
G=0.28115/176 (Chileans)
G=0.281696/1262 (Estonian)
G=0.3/12 (GENOME_DK)
A=0.416667/10 (Siberian)
A=0.420455/37 (SGDP_PRJ)
HGVS:: NC_000011.10:g.252851A>G, NC_000011.9:g.252851A>G, NM_002817.4:c.*251A>G, NM_002817.3:c.*251A>G, XM_011520235.4:c.*251A>G, XM_011520235.3:c.*251A>G, XM_011520235.2:c.*251A>G, XM_011520235.1:c.*251A>G, NM_175932.3:c.*251A>G, NM_175932.2:c.*251A>G

Select item 65424.

rs6542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:252941 (GRCh38)
11:252941 (GRCh37)
Canonical SPDI:: NC_000011.10:252940:C:A,NC_000011.10:252940:C:T
Gene:: PSMD13 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.040088/1761 (ALFA)
T=0.017188/77 (Estonian)
T=0.025/1 (GENOME_DK)
T=0.033441/124 (TWINSUK)
T=0.039958/154 (ALSPAC)
T=0.052104/52 (GoNL)
T=0.061667/37 (NorthernSweden)
T=0.101852/22 (Qatari)
T=0.111587/15628 (GnomAD)
T=0.128562/34029 (TOPMED)
T=0.196127/982 (1000Genomes)
T=0.246032/465 (HapMap)
C=0.375/78 (SGDP_PRJ)
T=0.404098/6772 (TOMMO)
C=0.428571/6 (Siberian)
T=0.458515/840 (Korea1K)
T=0.464846/1362 (KOREAN)
HGVS:: NC_000011.10:g.252941C>A, NC_000011.10:g.252941C>T, NC_000011.9:g.252941C>A, NC_000011.9:g.252941C>T, NM_002817.4:c.*341C>A, NM_002817.4:c.*341C>T, NM_002817.3:c.*341C>A, NM_002817.3:c.*341C>T, XM_011520235.4:c.*341C>A, XM_011520235.4:c.*341C>T, XM_011520235.3:c.*341C>A, XM_011520235.3:c.*341C>T, XM_011520235.2:c.*341C>A, XM_011520235.2:c.*341C>T, XM_011520235.1:c.*341C>A, XM_011520235.1:c.*341C>T, NM_175932.3:c.*341C>A, NM_175932.3:c.*341C>T, NM_175932.2:c.*341C>A, NM_175932.2:c.*341C>T

Select item 120655.

rs12065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:252616 (GRCh38)
11:252616 (GRCh37)
Canonical SPDI:: NC_000011.10:252615:C:T
Gene:: PSMD13 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.029787/1094 (ALFA)
T=0.000259/1 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.005618/3 (MGP)
T=0.014604/3668 (GnomAD_exomes)
T=0.018225/2207 (ExAC)
T=0.041667/9 (Qatari)
T=0.059422/8329 (GnomAD)
T=0.06284/16633 (TOPMED)
T=0.063894/831 (GoESP)
T=0.064803/325 (1000Genomes)
T=0.090352/7110 (PAGE_STUDY)
T=0.122642/156 (HapMap)
C=0.416667/10 (SGDP_PRJ)
HGVS:: NC_000011.10:g.252616C>T, NC_000011.9:g.252616C>T, NM_002817.4:c.*16C>T, NM_002817.3:c.*16C>T, XM_011520235.4:c.*16C>T, XM_011520235.3:c.*16C>T, XM_011520235.2:c.*16C>T, XM_011520235.1:c.*16C>T, NM_175932.3:c.*16C>T, NM_175932.2:c.*16C>T

Select item 4731516.

rs473151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 11:242112 (GRCh38)
11:242112 (GRCh37)
Canonical SPDI:: NC_000011.10:242111:G:A,NC_000011.10:242111:G:C,NC_000011.10:242111:G:T
Gene:: PSMD13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.126528/19002 (ALFA)
T=0.05/4 (PRJEB36033)
T=0.075/3 (GENOME_DK)
T=0.089772/402 (Estonian)
T=0.117021/451 (ALSPAC)
T=0.118932/441 (TWINSUK)
T=0.119238/119 (GoNL)
T=0.126667/76 (NorthernSweden)
T=0.138889/30 (Qatari)
T=0.162484/22065 (GnomAD)
T=0.177857/47077 (TOPMED)
T=0.21674/1085 (1000Genomes)
T=0.229846/479 (HGDP_Stanford)
T=0.23519/397 (HapMap)
T=0.289137/181 (Chileans)
T=0.392086/6571 (TOMMO)
G=0.421053/96 (SGDP_PRJ)
G=0.428571/6 (Siberian)
T=0.437773/802 (Korea1K)
T=0.438225/1284 (KOREAN)
HGVS:: NC_000011.10:g.242112G>A, NC_000011.10:g.242112G>C, NC_000011.10:g.242112G>T, NC_000011.9:g.242112G>A, NC_000011.9:g.242112G>C, NC_000011.9:g.242112G>T

Select item 4799797.

rs479979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:235541 (GRCh38)
11:235541 (GRCh37)
Canonical SPDI:: NC_000011.10:235540:C:G
Gene:: PSMD13 (Varview), SIRT3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.020527/296 (ALFA)
G=0.018519/4 (Qatari)
G=0.02737/3838 (GnomAD)
G=0.027483/138 (1000Genomes)
G=0.028471/7536 (TOPMED)
C=0.333333/2 (SGDP_PRJ)
HGVS:: NC_000011.10:g.235541C>G, NC_000011.9:g.235541C>G, XM_011519956.3:c.-1947G>C, XM_011519957.3:c.-1776G>C

Select item 4800598.

rs480059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:249253 (GRCh38)
11:249253 (GRCh37)
Canonical SPDI:: NC_000011.10:249252:A:G
Gene:: PSMD13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.081181/1760 (ALFA)
G=0.007187/21 (KOREAN)
G=0.009279/17 (Korea1K)
G=0.013766/231 (TOMMO)
G=0.027778/6 (Qatari)
G=0.042478/48 (Daghestan)
G=0.05/2 (GENOME_DK)
G=0.061993/310 (1000Genomes)
G=0.071429/320 (Estonian)
G=0.072144/72 (GoNL)
G=0.076321/283 (TWINSUK)
G=0.076803/296 (ALSPAC)
G=0.081667/49 (NorthernSweden)
G=0.082584/11570 (GnomAD)
G=0.083233/22031 (TOPMED)
A=0.464286/26 (SGDP_PRJ)
HGVS:: NC_000011.10:g.249253A>G, NC_000011.9:g.249253A>G

Select item 4910079.

rs491007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:253390 (GRCh38)
11:253390 (GRCh37)
Canonical SPDI:: NC_000011.10:253389:G:A
Gene:: PSMD13 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.036537/1478 (ALFA)
A=0.001618/6 (TWINSUK)
A=0.002595/10 (ALSPAC)
A=0.009018/9 (GoNL)
A=0.014377/9 (Chileans)
A=0.015/9 (NorthernSweden)
A=0.023148/5 (Qatari)
A=0.04993/7000 (GnomAD)
A=0.051895/13736 (TOPMED)
A=0.059338/297 (1000Genomes)
A=0.0745/5863 (PAGE_STUDY)
A=0.131841/159 (HapMap)
G=0.384615/10 (SGDP_PRJ)
HGVS:: NC_000011.10:g.253390G>A, NC_000011.9:g.253390G>A, NG_003253.3:g.3683C>T

Select item 49821710.

rs498217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:249097 (GRCh38)
11:249097 (GRCh37)
Canonical SPDI:: NC_000011.10:249096:A:G
Gene:: PSMD13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.078436/17140 (ALFA)
G=0.007187/21 (KOREAN)
G=0.008734/16 (Korea1K)
G=0.013766/231 (TOMMO)
G=0.027778/6 (Qatari)
G=0.04/4 (PRJEB36033)
G=0.05/2 (GENOME_DK)
G=0.054702/114 (HGDP_Stanford)
G=0.065428/328 (1000Genomes)
G=0.069288/37 (MGP)
G=0.071317/17433 (GnomAD_exomes)
G=0.071739/8636 (ExAC)
G=0.07205/116 (HapMap)
G=0.072098/323 (Estonian)
G=0.072144/72 (GoNL)
G=0.076052/282 (TWINSUK)
G=0.076803/296 (ALSPAC)
G=0.081667/49 (NorthernSweden)
G=0.087361/12241 (GnomAD)
G=0.087944/23278 (TOPMED)
G=0.09265/1205 (GoESP)
G=0.101974/31 (FINRISK)
A=0.462963/25 (SGDP_PRJ)
HGVS:: NC_000011.10:g.249097A>G, NC_000011.9:g.249097A>G

Select item 50540411.

rs505404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:243268 (GRCh38)
11:243268 (GRCh37)
Canonical SPDI:: NC_000011.10:243267:T:G
Gene:: PSMD13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.225303/18419 (ALFA)
G=0.000318/5 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.001711/5 (KOREAN)
G=0.008838/7 (PRJEB37584)
G=0.022472/12 (MGP)
G=0.101852/22 (Qatari)
G=0.102541/113 (Daghestan)
G=0.15643/326 (HGDP_Stanford)
G=0.156863/16 (PRJEB36033)
G=0.22361/1120 (1000Genomes)
G=0.226537/840 (TWINSUK)
G=0.227037/875 (ALSPAC)
G=0.242239/437 (HapMap)
G=0.25/10 (GENOME_DK)
G=0.252505/252 (GoNL)
G=0.260491/1167 (Estonian)
G=0.279912/74090 (TOPMED)
G=0.285/171 (NorthernSweden)
G=0.287616/40276 (GnomAD)
G=0.297474/23410 (PAGE_STUDY)
T=0.4/8 (Siberian)
T=0.412162/61 (SGDP_PRJ)
HGVS:: NC_000011.10:g.243268T>G, NC_000011.9:g.243268T>G, NG_024292.2:g.522A>C

PubMed

Select item 50869312.

rs508693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:250075 (GRCh38)
11:250075 (GRCh37)
Canonical SPDI:: NC_000011.10:250074:A:C,NC_000011.10:250074:A:G
Gene:: PSMD13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.020732/342 (ALFA)
G=0.007871/23 (KOREAN)
G=0.008734/16 (Korea1K)
G=0.013801/231 (TOMMO)
G=0.037037/8 (Qatari)
G=0.05/2 (GENOME_DK)
G=0.071095/274 (ALSPAC)
G=0.071142/71 (GoNL)
G=0.071518/358 (1000Genomes)
G=0.071652/321 (Estonian)
G=0.074434/276 (TWINSUK)
G=0.081667/49 (NorthernSweden)
G=0.09541/25254 (TOPMED)
A=0.466667/28 (SGDP_PRJ)
HGVS:: NC_000011.10:g.250075A>C, NC_000011.10:g.250075A>G, NC_000011.9:g.250075A>C, NC_000011.9:g.250075A>G

Select item 51959213.

rs519592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:236811 (GRCh38)
11:236811 (GRCh37)
Canonical SPDI:: NC_000011.10:236810:G:A,NC_000011.10:236810:G:T
Gene:: PSMD13 (Varview), SIRT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.238876/14688 (ALFA)
G=0.155894/82 (SGDP_PRJ)
G=0.156911/2630 (TOMMO)
G=0.160377/34 (Vietnamese)
G=0.185324/543 (KOREAN)
G=0.20331/1018 (1000Genomes)
G=0.203704/11 (Siberian)
G=0.225/9 (GENOME_DK)
G=0.226514/59956 (TOPMED)
G=0.23058/1033 (Estonian)
G=0.23218/32528 (GnomAD)
G=0.241667/145 (NorthernSweden)
G=0.384259/83 (Qatari)
HGVS:: NC_000011.10:g.236811G>A, NC_000011.10:g.236811G>T, NC_000011.9:g.236811G>A, NC_000011.9:g.236811G>T, NM_002817.3:c.-239G>A, NM_002817.3:c.-239G>T, NM_175932.2:c.-239G>A, NM_175932.2:c.-239G>T, NR_163393.1:n.121C>T, NR_163393.1:n.121C>A, NR_163392.1:n.121C>T, NR_163392.1:n.121C>A, NR_163389.1:n.121C>T, NR_163389.1:n.121C>A, NR_163391.1:n.121C>T, NR_163391.1:n.121C>A, NR_163386.1:n.121C>T, NR_163386.1:n.121C>A, NR_163390.1:n.121C>T, NR_163390.1:n.121C>A, NR_163388.1:n.121C>T, NR_163388.1:n.121C>A, NM_001370321.1:c.-341C>T, NM_001370321.1:c.-341C>A, NR_163387.1:n.121C>T, NR_163387.1:n.121C>A, NM_001370318.1:c.-341C>T, NM_001370318.1:c.-341C>A, NM_001370322.1:c.-244C>T, NM_001370322.1:c.-244C>A, NM_001370319.1:c.-268C>T, NM_001370319.1:c.-268C>A, NM_001370320.1:c.-266C>T, NM_001370320.1:c.-266C>A, NM_001370324.1:c.-266C>T, NM_001370324.1:c.-266C>A, NM_001370317.1:c.-205C>T, NM_001370317.1:c.-205C>A

Select item 52455514.

rs524555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:246678 (GRCh38)
11:246678 (GRCh37)
Canonical SPDI:: NC_000011.10:246677:T:A
Gene:: PSMD13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.12991/2454 (ALFA)
A=0.075/3 (GENOME_DK)
A=0.090402/405 (Estonian)
A=0.117021/451 (ALSPAC)
A=0.118123/438 (TWINSUK)
A=0.118236/118 (GoNL)
A=0.128333/77 (NorthernSweden)
A=0.134259/29 (Qatari)
A=0.152194/21323 (GnomAD)
A=0.170724/45189 (TOPMED)
A=0.207683/1040 (1000Genomes)
A=0.221212/73 (HapMap)
A=0.388881/6517 (TOMMO)
T=0.418919/93 (SGDP_PRJ)
T=0.428571/6 (Siberian)
A=0.435044/797 (Korea1K)
A=0.435154/1275 (KOREAN)
A=0.462617/99 (Vietnamese)
HGVS:: NC_000011.10:g.246678T>A, NC_000011.9:g.246678T>A

Select item 55141915.

rs551419 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:240844 (GRCh38)
11:240844 (GRCh37)
Canonical SPDI:: NC_000011.10:240843:T:C,NC_000011.10:240843:T:G
Gene:: PSMD13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.244789/4580 (ALFA)
C=0.000318/5 (TOMMO)
C=0.000546/1 (Korea1K)
C=0.001711/5 (KOREAN)
C=0.019048/4 (Vietnamese)
C=0.101852/22 (Qatari)
C=0.224961/867 (ALSPAC)
C=0.225728/837 (TWINSUK)
C=0.226733/1135 (1000Genomes)
C=0.25/10 (GENOME_DK)
C=0.251503/251 (GoNL)
C=0.258705/1159 (Estonian)
C=0.28244/74759 (TOPMED)
C=0.283333/170 (NorthernSweden)
C=0.289574/40541 (GnomAD)
T=0.4/8 (Siberian)
T=0.413333/62 (SGDP_PRJ)
HGVS:: NC_000011.10:g.240844T>C, NC_000011.10:g.240844T>G, NC_000011.9:g.240844T>C, NC_000011.9:g.240844T>G

Select item 55477316.

rs554773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:247630 (GRCh38)
11:247630 (GRCh37)
Canonical SPDI:: NC_000011.10:247629:G:A
Gene:: PSMD13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.236845/4474 (ALFA)
A=0.15/6 (GENOME_DK)
A=0.158008/2648 (TOMMO)
A=0.161996/474 (KOREAN)
A=0.163755/300 (Korea1K)
A=0.169364/628 (TWINSUK)
A=0.175926/38 (Qatari)
A=0.180332/695 (ALSPAC)
A=0.180357/808 (Estonian)
A=0.195/117 (NorthernSweden)
A=0.197115/41 (Vietnamese)
A=0.202405/202 (GoNL)
A=0.290053/40590 (GnomAD)
A=0.298277/78951 (TOPMED)
A=0.316677/1586 (1000Genomes)
G=0.375/9 (Siberian)
G=0.421642/113 (SGDP_PRJ)
HGVS:: NC_000011.10:g.247630G>A, NC_000011.9:g.247630G>A

Select item 55942217.

rs559422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:248181 (GRCh38)
11:248181 (GRCh37)
Canonical SPDI:: NC_000011.10:248180:A:C
Gene:: PSMD13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.080741/7138 (ALFA)
C=0./0 (PRJEB36033)
C=0.009582/28 (KOREAN)
C=0.011463/21 (Korea1K)
C=0.014368/241 (TOMMO)
C=0.032407/7 (Qatari)
C=0.039663/199 (1000Genomes)
C=0.042812/81 (HapMap)
C=0.04723/3717 (PAGE_STUDY)
C=0.05/2 (GENOME_DK)
C=0.059501/124 (HGDP_Stanford)
C=0.06307/16694 (TOPMED)
C=0.064701/9061 (GnomAD)
C=0.076116/341 (Estonian)
C=0.084142/312 (TWINSUK)
C=0.086172/86 (GoNL)
C=0.086404/333 (ALSPAC)
C=0.086667/52 (NorthernSweden)
A=0.471429/33 (SGDP_PRJ)
A=0.5/1 (Siberian)
HGVS:: NC_000011.10:g.248181A>C, NC_000011.9:g.248181A>C

PubMed

Select item 57381018.

rs573810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:238138 (GRCh38)
11:238138 (GRCh37)
Canonical SPDI:: NC_000011.10:238137:G:A
Gene:: PSMD13 (Varview), SIRT3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.012543/323 (ALFA)
A=0.018519/4 (Qatari)
A=0.027171/136 (1000Genomes)
A=0.027397/3841 (GnomAD)
A=0.028445/7529 (TOPMED)
G=0.333333/2 (SGDP_PRJ)
HGVS:: NC_000011.10:g.238138G>A, NC_000011.9:g.238138G>A

Select item 57725919.

rs577259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:247986 (GRCh38)
11:247986 (GRCh37)
Canonical SPDI:: NC_000011.10:247985:C:A,NC_000011.10:247985:C:G,NC_000011.10:247985:C:T
Gene:: PSMD13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.232247/15084 (ALFA)
T=0.05/2 (GENOME_DK)
T=0.087963/19 (Qatari)
T=0.18/18 (PRJEB36033)
T=0.194097/972 (1000Genomes)
T=0.194149/365 (HapMap)
T=0.197406/411 (HGDP_Stanford)
T=0.214286/45 (Vietnamese)
T=0.221346/58588 (TOPMED)
T=0.230071/32220 (GnomAD)
T=0.260521/260 (GoNL)
T=0.290848/1303 (Estonian)
T=0.311945/914 (KOREAN)
T=0.329148/603 (Korea1K)
T=0.34/204 (NorthernSweden)
C=0.412371/80 (SGDP_PRJ)
C=0.466667/14 (Siberian)
HGVS:: NC_000011.10:g.247986C>A, NC_000011.10:g.247986C>G, NC_000011.10:g.247986C>T, NC_000011.9:g.247986C>A, NC_000011.9:g.247986C>G, NC_000011.9:g.247986C>T

Select item 57729820.

rs577298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:248002 (GRCh38)
11:248002 (GRCh37)
Canonical SPDI:: NC_000011.10:248001:C:A,NC_000011.10:248001:C:T
Gene:: PSMD13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.203929/4796 (ALFA)
T=0.013347/39 (KOREAN)
T=0.014151/3 (Vietnamese)
T=0.018013/33 (Korea1K)
T=0.01918/321 (TOMMO)
T=0.06/6 (PRJEB36033)
T=0.125/27 (Qatari)
T=0.128891/265 (HGDP_Stanford)
T=0.139776/700 (1000Genomes)
T=0.151906/271 (HapMap)
T=0.155414/12191 (PAGE_STUDY)
T=0.222135/58797 (TOPMED)
T=0.225/9 (GENOME_DK)
T=0.306613/306 (GoNL)
T=0.346667/208 (NorthernSweden)
T=0.360491/1615 (Estonian)
C=0.427419/53 (SGDP_PRJ)
C=0.45/9 (Siberian)
HGVS:: NC_000011.10:g.248002C>A, NC_000011.10:g.248002C>T, NC_000011.9:g.248002C>A, NC_000011.9:g.248002C>T

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