AIMP1 - SNP

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Select item 11346481.

rs1134648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:106328087 (GRCh38)
4:107249244 (GRCh37)
Canonical SPDI:: NC_000004.12:106328086:C:G,NC_000004.12:106328086:C:T
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.013187/650 (ALFA)
G=0.006012/6 (GoNL)
G=0.007151/93 (GoESP)
G=0.007525/29 (ALSPAC)
G=0.008091/30 (TWINSUK)
G=0.010714/48 (Estonian)
G=0.011236/6 (MGP)
G=0.019737/6 (FINRISK)
G=0.024913/3491 (GnomAD)
G=0.031667/19 (NorthernSweden)
G=0.032407/7 (Qatari)
G=0.037599/9952 (TOPMED)
G=0.062369/7545 (ExAC)
G=0.087481/6880 (PAGE_STUDY)
G=0.106707/35 (HapMap)
G=0.108994/546 (1000Genomes)
G=0.205063/162 (PRJEB37584)
G=0.230895/423 (Korea1K)
G=0.245051/718 (KOREAN)
G=0.264456/4432 (TOMMO)
G=0.330619/203 (Vietnamese)
C=0.375/48 (SGDP_PRJ)
C=0.5/6 (Siberian)
HGVS:: NC_000004.12:g.106328087C>G, NC_000004.12:g.106328087C>T, NC_000004.11:g.107249244C>G, NC_000004.11:g.107249244C>T, NG_028166.1:g.17478C>G, NG_028166.1:g.17478C>T, NM_004757.4:c.235C>G, NM_004757.4:c.235C>T, NM_004757.3:c.235C>G, NM_004757.3:c.235C>T, NM_001142415.2:c.235C>G, NM_001142415.2:c.235C>T, NM_001142415.1:c.235C>G, NM_001142415.1:c.235C>T, NM_001142416.2:c.235C>G, NM_001142416.2:c.235C>T, NM_001142416.1:c.307C>G, NM_001142416.1:c.307C>T, XM_017008835.3:c.235C>G, XM_017008835.3:c.235C>T, XM_017008835.2:c.235C>G, XM_017008835.2:c.235C>T, XM_017008835.1:c.235C>G, XM_017008835.1:c.235C>T, XM_047416410.1:c.235C>G, XM_047416410.1:c.235C>T, NP_004748.2:p.Pro79Ala, NP_004748.2:p.Pro79Ser, NP_001135887.1:p.Pro79Ala, NP_001135887.1:p.Pro79Ser, NP_001135888.2:p.Pro79Ala, NP_001135888.2:p.Pro79Ser, XP_016864324.1:p.Pro79Ala, XP_016864324.1:p.Pro79Ser, XP_047272366.1:p.Pro79Ala, XP_047272366.1:p.Pro79Ser

Select item 22302552.

rs2230255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:106328201 (GRCh38)
4:107249358 (GRCh37)
Canonical SPDI:: NC_000004.12:106328200:A:G
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.008838/591 (ALFA)
G=0.006982/1749 (GnomAD_exomes)
G=0.008916/1001 (ExAC)
G=0.023148/5 (Qatari)
G=0.02855/4003 (GnomAD)
G=0.029227/7736 (TOPMED)
G=0.030832/401 (GoESP)
G=0.031699/159 (1000Genomes)
A=0.5/3 (SGDP_PRJ)
HGVS:: NC_000004.12:g.106328201A>G, NC_000004.11:g.107249358A>G, NG_028166.1:g.17592A>G, NM_004757.4:c.349A>G, NM_004757.3:c.349A>G, NM_001142415.2:c.349A>G, NM_001142415.1:c.349A>G, NM_001142416.2:c.349A>G, NM_001142416.1:c.421A>G, XM_017008835.3:c.349A>G, XM_017008835.2:c.349A>G, XM_017008835.1:c.349A>G, XM_047416410.1:c.349A>G, NP_004748.2:p.Thr117Ala, NP_001135887.1:p.Thr117Ala, NP_001135888.2:p.Thr117Ala, XP_016864324.1:p.Thr117Ala, XP_047272366.1:p.Thr117Ala

Select item 31099543.

rs3109954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:106337070 (GRCh38)
4:107258227 (GRCh37)
Canonical SPDI:: NC_000004.12:106337069:C:A,NC_000004.12:106337069:C:T
Gene:: AIMP1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.048982/1776 (ALFA)
T=0.018973/85 (Estonian)
T=0.025/1 (GENOME_DK)
T=0.026052/26 (GoNL)
T=0.027504/106 (ALSPAC)
T=0.028141/366 (GoESP)
T=0.028317/105 (TWINSUK)
T=0.046287/6486 (GnomAD)
T=0.048689/26 (MGP)
T=0.051667/31 (NorthernSweden)
T=0.052632/16 (FINRISK)
T=0.058404/15459 (TOPMED)
T=0.060185/13 (Qatari)
T=0.079912/9690 (ExAC)
T=0.099099/176 (HapMap)
T=0.123829/620 (1000Genomes)
T=0.230895/423 (Korea1K)
T=0.245051/718 (KOREAN)
T=0.264456/4432 (TOMMO)
T=0.328455/202 (Vietnamese)
C=0.384058/53 (SGDP_PRJ)
C=0.5/6 (Siberian)
HGVS:: NC_000004.12:g.106337070C>A, NC_000004.12:g.106337070C>T, NC_000004.11:g.107258227C>A, NC_000004.11:g.107258227C>T, NG_028166.1:g.26461C>A, NG_028166.1:g.26461C>T

Select item 31099564.

rs3109956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:106331906 (GRCh38)
4:107253063 (GRCh37)
Canonical SPDI:: NC_000004.12:106331905:C:T
Gene:: AIMP1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.016349/457 (ALFA)
T=0./0 (HapMap)
T=0.006012/6 (GoNL)
T=0.006997/91 (GoESP)
T=0.007525/29 (ALSPAC)
T=0.008091/30 (TWINSUK)
T=0.010714/48 (Estonian)
T=0.011236/6 (MGP)
T=0.024806/3476 (GnomAD)
T=0.031667/19 (NorthernSweden)
T=0.032407/7 (Qatari)
T=0.037516/9930 (TOPMED)
T=0.062319/7555 (ExAC)
T=0.068079/17074 (GnomAD_exomes)
T=0.108838/545 (1000Genomes)
T=0.230895/423 (Korea1K)
T=0.245392/719 (KOREAN)
T=0.264456/4432 (TOMMO)
T=0.32243/69 (Vietnamese)
C=0.375/48 (SGDP_PRJ)
C=0.5/6 (Siberian)
HGVS:: NC_000004.12:g.106331906C>T, NC_000004.11:g.107253063C>T, NG_028166.1:g.21297C>T

Select item 37374955.

rs3737495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:106337071 (GRCh38)
4:107258228 (GRCh37)
Canonical SPDI:: NC_000004.12:106337070:G:A
Gene:: AIMP1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.130907/6709 (ALFA)
A=0.063025/15 (HapMap)
A=0.085816/1438 (TOMMO)
A=0.092286/462 (1000Genomes)
A=0.097222/21 (Qatari)
A=0.101866/26963 (TOPMED)
A=0.105626/14791 (GnomAD)
A=0.107566/1399 (GoESP)
A=0.11191/327 (KOREAN)
A=0.112445/206 (Korea1K)
A=0.115317/131 (Daghestan)
A=0.123596/66 (MGP)
A=0.125965/15265 (ExAC)
A=0.126981/31831 (GnomAD_exomes)
A=0.14/84 (NorthernSweden)
A=0.140848/631 (Estonian)
A=0.147519/547 (TWINSUK)
A=0.154605/47 (FINRISK)
A=0.160093/617 (ALSPAC)
A=0.169339/169 (GoNL)
A=0.199675/123 (Vietnamese)
A=0.25/10 (GENOME_DK)
G=0.45614/52 (SGDP_PRJ)
G=0.5/5 (Siberian)
HGVS:: NC_000004.12:g.106337071G>A, NC_000004.11:g.107258228G>A, NG_028166.1:g.26462G>A

Select item 37374976.

rs3737497 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:106336818 (GRCh38)
4:107257975 (GRCh37)
Canonical SPDI:: NC_000004.12:106336817:A:T
Gene:: AIMP1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.148827/4160 (ALFA)
T=0.098131/21 (Vietnamese)
T=0.106481/23 (Qatari)
T=0.116355/30798 (TOPMED)
T=0.123871/17365 (GnomAD)
T=0.125115/1627 (GoESP)
T=0.134291/673 (1000Genomes)
T=0.136364/219 (HapMap)
T=0.146067/78 (MGP)
T=0.15/6 (GENOME_DK)
T=0.161914/40573 (GnomAD_exomes)
T=0.165729/20097 (ExAC)
T=0.171521/636 (TWINSUK)
T=0.176353/176 (GoNL)
T=0.1767/681 (ALSPAC)
T=0.181223/332 (Korea1K)
T=0.190402/853 (Estonian)
T=0.198294/581 (KOREAN)
T=0.212895/3568 (TOMMO)
T=0.263333/158 (NorthernSweden)
A=0.442105/84 (SGDP_PRJ)
A=0.45/9 (Siberian)
HGVS:: NC_000004.12:g.106336818A>T, NC_000004.11:g.107257975A>T, NG_028166.1:g.26209A>T

Select item 37374987.

rs3737498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:106324979 (GRCh38)
4:107246136 (GRCh37)
Canonical SPDI:: NC_000004.12:106324978:C:A,NC_000004.12:106324978:C:T
Gene:: AIMP1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.165921/35912 (ALFA)
A=0.094463/58 (Vietnamese)
A=0.115741/25 (Qatari)
A=0.135443/107 (PRJEB37584)
A=0.136704/73 (MGP)
A=0.15/6 (GENOME_DK)
A=0.160701/42536 (TOPMED)
A=0.161698/12725 (PAGE_STUDY)
A=0.165638/23125 (GnomAD)
A=0.166564/2161 (GoESP)
A=0.17206/638 (TWINSUK)
A=0.172902/40414 (GnomAD_exomes)
A=0.175661/332 (HapMap)
A=0.1767/681 (ALSPAC)
A=0.177355/177 (GoNL)
A=0.181137/907 (1000Genomes)
A=0.181223/332 (Korea1K)
A=0.189732/850 (Estonian)
A=0.196928/577 (KOREAN)
A=0.210526/64 (FINRISK)
A=0.212895/3568 (TOMMO)
A=0.220189/20460 (ExAC)
A=0.263333/158 (NorthernSweden)
C=0.438679/93 (SGDP_PRJ)
C=0.45/9 (Siberian)
HGVS:: NC_000004.12:g.106324979C>A, NC_000004.12:g.106324979C>T, NC_000004.11:g.107246136C>A, NC_000004.11:g.107246136C>T, NG_028166.1:g.14370C>A, NG_028166.1:g.14370C>T

Select item 37927188.

rs3792718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:106327733 (GRCh38)
4:107248890 (GRCh37)
Canonical SPDI:: NC_000004.12:106327732:T:C
Gene:: AIMP1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.155661/4804 (ALFA)
C=0.093458/20 (Vietnamese)
C=0.106481/23 (Qatari)
C=0.115879/30672 (TOPMED)
C=0.123552/17316 (GnomAD)
C=0.134291/673 (1000Genomes)
C=0.15/6 (GENOME_DK)
C=0.171791/637 (TWINSUK)
C=0.176353/176 (GoNL)
C=0.17644/680 (ALSPAC)
C=0.181223/332 (Korea1K)
C=0.190402/853 (Estonian)
C=0.196928/577 (KOREAN)
C=0.212895/3568 (TOMMO)
C=0.263333/158 (NorthernSweden)
T=0.441489/83 (SGDP_PRJ)
T=0.45/9 (Siberian)
HGVS:: NC_000004.12:g.106327733T>C, NC_000004.11:g.107248890T>C, NG_028166.1:g.17124T>C

Select item 38054109.

rs3805410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:106347792 (GRCh38)
4:107268949 (GRCh37)
Canonical SPDI:: NC_000004.12:106347791:A:G
Gene:: AIMP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.161084/23980 (ALFA)
G=0.052434/28 (MGP)
G=0.097222/21 (Vietnamese)
G=0.115741/25 (Qatari)
G=0.140213/37113 (TOPMED)
G=0.146159/20476 (GnomAD)
G=0.15/6 (GENOME_DK)
G=0.154334/292 (HapMap)
G=0.160369/803 (1000Genomes)
G=0.17233/639 (TWINSUK)
G=0.1767/681 (ALSPAC)
G=0.177355/177 (GoNL)
G=0.181223/332 (Korea1K)
G=0.190179/852 (Estonian)
G=0.197611/579 (KOREAN)
G=0.212895/3568 (TOMMO)
G=0.263333/158 (NorthernSweden)
A=0.440594/89 (SGDP_PRJ)
A=0.45/9 (Siberian)
HGVS:: NC_000004.12:g.106347792A>G, NC_000004.11:g.107268949A>G, NG_028166.1:g.37183A>G, NM_004757.4:c.*100A>G, NM_004757.3:c.*100A>G, NM_001142415.2:c.*100A>G, NM_001142415.1:c.*100A>G, NM_001142416.2:c.*100A>G, NM_001142416.1:c.*100A>G, XM_017008835.3:c.*100A>G, XM_017008835.2:c.*100A>G, XM_017008835.1:c.*100A>G, XM_047416410.1:c.*100A>G

Select item 380541110.

rs3805411 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:106347896 (GRCh38)
4:107269053 (GRCh37)
Canonical SPDI:: NC_000004.12:106347895:A:G
Gene:: AIMP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.160556/10318 (ALFA)
G=0.097222/21 (Vietnamese)
G=0.115741/25 (Qatari)
G=0.140164/37100 (TOPMED)
G=0.146035/20446 (GnomAD)
G=0.147558/278 (HapMap)
G=0.15/6 (GENOME_DK)
G=0.160212/802 (1000Genomes)
G=0.17206/638 (TWINSUK)
G=0.176959/682 (ALSPAC)
G=0.177355/177 (GoNL)
G=0.181223/332 (Korea1K)
G=0.190402/853 (Estonian)
G=0.197611/579 (KOREAN)
G=0.212895/3568 (TOMMO)
G=0.263333/158 (NorthernSweden)
A=0.440594/89 (SGDP_PRJ)
A=0.5/9 (Siberian)
HGVS:: NC_000004.12:g.106347896A>G, NC_000004.11:g.107269053A>G, NG_028166.1:g.37287A>G, NM_004757.4:c.*204A>G, NM_004757.3:c.*204A>G, NM_001142415.2:c.*204A>G, NM_001142415.1:c.*204A>G, NM_001142416.2:c.*204A>G, NM_001142416.1:c.*204A>G, XM_017008835.3:c.*204A>G, XM_017008835.2:c.*204A>G, XM_017008835.1:c.*204A>G, XM_047416410.1:c.*204A>G

Select item 681416611.

rs6814166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:106316238 (GRCh38)
4:107237395 (GRCh37)
Canonical SPDI:: NC_000004.12:106316237:C:A,NC_000004.12:106316237:C:T
Gene:: AIMP1 (Varview), TBCK (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.161598/24115 (ALFA)
T=0.089623/19 (Vietnamese)
T=0.115741/25 (Qatari)
T=0.144898/38353 (TOPMED)
T=0.15/6 (GENOME_DK)
T=0.150906/21126 (GnomAD)
T=0.158898/300 (HapMap)
T=0.162242/813 (1000Genomes)
T=0.17233/639 (TWINSUK)
T=0.176353/176 (GoNL)
T=0.176959/682 (ALSPAC)
T=0.181223/332 (Korea1K)
T=0.191295/857 (Estonian)
T=0.19727/578 (KOREAN)
T=0.212789/3566 (TOMMO)
T=0.265/159 (NorthernSweden)
C=0.441748/91 (SGDP_PRJ)
C=0.45/9 (Siberian)
HGVS:: NC_000004.12:g.106316238C>A, NC_000004.12:g.106316238C>T, NC_000004.11:g.107237395C>A, NC_000004.11:g.107237395C>T, NG_034057.3:g.5446G>T, NG_034057.3:g.5446G>A, NG_028166.1:g.5629C>A, NG_028166.1:g.5629C>T, NM_004757.4:c.-132C>A, NM_004757.4:c.-132C>T, NM_004757.3:c.-132C>A, NM_004757.3:c.-132C>T, NM_033115.4:c.-337G>T, NM_033115.4:c.-337G>A, NM_033115.3:c.-337G>T, NM_033115.3:c.-337G>A, NM_001163435.2:c.-337G>T, NM_001163435.2:c.-337G>A, NM_001163437.2:c.-337G>T, NM_001163437.2:c.-337G>A, NM_001290768.1:c.-954G>T, NM_001290768.1:c.-954G>A, NM_001163435.1:c.-337G>T, NM_001163435.1:c.-337G>A, NM_001163437.1:c.-337G>T, NM_001163437.1:c.-337G>A

Select item 1154477712.

rs11544777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:106325033 (GRCh38)
4:107246190 (GRCh37)
Canonical SPDI:: NC_000004.12:106325032:G:C
Gene:: AIMP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.057716/2846 (ALFA)
C=0.000177/3 (TOMMO)
C=0.00463/1 (Qatari)
C=0.017333/87 (1000Genomes)
C=0.035853/9490 (TOPMED)
C=0.040453/4827 (ExAC)
C=0.041266/10334 (GnomAD_exomes)
C=0.041667/25 (NorthernSweden)
C=0.044904/6290 (GnomAD)
C=0.044944/24 (MGP)
C=0.046825/609 (GoESP)
C=0.057343/221 (ALSPAC)
C=0.062124/62 (GoNL)
C=0.064995/241 (TWINSUK)
C=0.065789/20 (FINRISK)
C=0.075/3 (GENOME_DK)
C=0.080357/360 (Estonian)
G=0.5/10 (SGDP_PRJ)
G=0.5/4 (Siberian)
HGVS:: NC_000004.12:g.106325033G>C, NC_000004.11:g.107246190G>C, NG_028166.1:g.14424G>C, NM_004757.4:c.24G>C, NM_004757.3:c.24G>C, NM_001142415.2:c.24G>C, NM_001142415.1:c.24G>C, NM_001142416.2:c.24G>C, NM_001142416.1:c.96G>C, XM_017008835.3:c.24G>C, XM_017008835.2:c.24G>C, XM_017008835.1:c.24G>C, XM_047416410.1:c.24G>C

Select item 6231811713.

rs62318117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:106316858 (GRCh38)
4:107238015 (GRCh37)
Canonical SPDI:: NC_000004.12:106316857:A:G,NC_000004.12:106316857:A:T
Gene:: AIMP1 (Varview), TBCK (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01314/234 (ALFA)
G=0.00004/1 (TOMMO)
G=0.00463/1 (Qatari)
G=0.0164/82 (1000Genomes)
G=0.035/21 (NorthernSweden)
G=0.04933/221 (Estonian)
G=0.05708/220 (ALSPAC)
G=0.05933/220 (TWINSUK)
G=0.06914/69 (GoNL)
G=0.1/4 (GENOME_DK)
A=0.5/7 (SGDP_PRJ)
HGVS:: NC_000004.12:g.106316858A>G, NC_000004.12:g.106316858A>T, NC_000004.11:g.107238015A>G, NC_000004.11:g.107238015A>T, NG_034057.3:g.4826T>C, NG_034057.3:g.4826T>A, NG_028166.1:g.6249A>G, NG_028166.1:g.6249A>T

Select item 7287855914.

rs72878559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:106316331 (GRCh38)
4:107237488 (GRCh37)
Canonical SPDI:: NC_000004.12:106316330:C:G,NC_000004.12:106316330:C:T
Gene:: AIMP1 (Varview), TBCK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00443/62 (ALFA)
T=0.023148/5 (Qatari)
T=0.029374/4075 (GnomAD)
T=0.03005/7954 (TOPMED)
T=0.032792/164 (1000Genomes)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000004.12:g.106316331C>G, NC_000004.12:g.106316331C>T, NC_000004.11:g.107237488C>G, NC_000004.11:g.107237488C>T, NG_034057.3:g.5353G>C, NG_034057.3:g.5353G>A, NG_028166.1:g.5722C>G, NG_028166.1:g.5722C>T, NM_004757.4:c.-39C>G, NM_004757.4:c.-39C>T, NM_004757.3:c.-39C>G, NM_004757.3:c.-39C>T

Select item 7740801715.

rs77408017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:106347331 (GRCh38)
4:107268488 (GRCh37)
Canonical SPDI:: NC_000004.12:106347330:C:A
Gene:: AIMP1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.148491/2805 (ALFA)
A=0.103774/22 (Vietnamese)
A=0.106481/23 (Qatari)
A=0.11614/30741 (TOPMED)
A=0.12398/17329 (GnomAD)
A=0.133666/669 (1000Genomes)
A=0.15/6 (GENOME_DK)
A=0.17233/639 (TWINSUK)
A=0.175351/175 (GoNL)
A=0.177218/683 (ALSPAC)
A=0.181223/332 (Korea1K)
A=0.190179/852 (Estonian)
A=0.197952/580 (KOREAN)
A=0.212895/3568 (TOMMO)
A=0.263333/158 (NorthernSweden)
C=0.44086/82 (SGDP_PRJ)
C=0.45/9 (Siberian)
HGVS:: NC_000004.12:g.106347331C>A, NC_000004.11:g.107268488C>A, NG_028166.1:g.36722C>A

Select item 11384429516.

rs113844295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:106328162 (GRCh38)
4:107249319 (GRCh37)
Canonical SPDI:: NC_000004.12:106328161:A:G
Gene:: AIMP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.002138/164 (ALFA)
G=0.002489/625 (GnomAD_exomes)
G=0.003231/388 (ExAC)
G=0.010503/1473 (GnomAD)
G=0.01085/2872 (TOPMED)
G=0.010995/143 (GoESP)
G=0.011711/59 (1000Genomes)
G=0.013889/3 (Qatari)
G=0.01535/1208 (PAGE_STUDY)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000004.12:g.106328162A>G, NC_000004.11:g.107249319A>G, NG_028166.1:g.17553A>G, NM_004757.4:c.310A>G, NM_004757.3:c.310A>G, NM_001142415.2:c.310A>G, NM_001142415.1:c.310A>G, NM_001142416.2:c.310A>G, NM_001142416.1:c.382A>G, XM_017008835.3:c.310A>G, XM_017008835.2:c.310A>G, XM_017008835.1:c.310A>G, XM_047416410.1:c.310A>G, NP_004748.2:p.Thr104Ala, NP_001135887.1:p.Thr104Ala, NP_001135888.2:p.Thr104Ala, XP_016864324.1:p.Thr104Ala, XP_047272366.1:p.Thr104Ala

Select item 13810652417.

rs138106524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:106331872 (GRCh38)
4:107253029 (GRCh37)
Canonical SPDI:: NC_000004.12:106331871:C:T
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000664/131 (ALFA)
T=0./0 (ALSPAC)
T=0.000223/1 (Estonian)
T=0.00027/1 (TWINSUK)
T=0.000312/2 (1000Genomes)
T=0.000485/68 (GnomAD)
T=0.000525/139 (TOPMED)
T=0.000538/7 (GoESP)
T=0.000559/44 (PAGE_STUDY)
T=0.000649/163 (GnomAD_exomes)
T=0.000676/82 (ExAC)
HGVS:: NC_000004.12:g.106331872C>T, NC_000004.11:g.107253029C>T, NG_028166.1:g.21263C>T, NM_004757.4:c.592C>T, NM_004757.3:c.592C>T, NM_001142415.2:c.592C>T, NM_001142415.1:c.592C>T, NM_001142416.2:c.592C>T, NM_001142416.1:c.664C>T, XM_017008835.3:c.592C>T, XM_017008835.2:c.592C>T, XM_017008835.1:c.592C>T, XM_047416410.1:c.592C>T, NP_004748.2:p.Pro198Ser, NP_001135887.1:p.Pro198Ser, NP_001135888.2:p.Pro198Ser, XP_016864324.1:p.Pro198Ser, XP_047272366.1:p.Pro198Ser

Select item 13842942418.

rs138429424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:106347687 (GRCh38)
4:107268844 (GRCh37)
Canonical SPDI:: NC_000004.12:106347686:A:C
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000077/1 (GoESP)
HGVS:: NC_000004.12:g.106347687A>C, NC_000004.11:g.107268844A>C, NG_028166.1:g.37078A>C, NM_004757.4:c.934A>C, NM_004757.3:c.934A>C, NM_001142415.2:c.934A>C, NM_001142415.1:c.934A>C, NM_001142416.2:c.934A>C, NM_001142416.1:c.1006A>C, XM_017008835.3:c.934A>C, XM_017008835.2:c.934A>C, XM_017008835.1:c.934A>C, XM_047416410.1:c.934A>C, NP_004748.2:p.Lys312Gln, NP_001135887.1:p.Lys312Gln, NP_001135888.2:p.Lys312Gln, XP_016864324.1:p.Lys312Gln, XP_047272366.1:p.Lys312Gln

Select item 14389849719.

rs143898497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:106328215 (GRCh38)
4:107249372 (GRCh37)
Canonical SPDI:: NC_000004.12:106328214:G:C,NC_000004.12:106328214:G:T
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00001/1 (ALFA)
C=0.000625/3 (1000Genomes)
C=0.000923/12 (GoESP)
C=0.001005/266 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.106328215G>C, NC_000004.12:g.106328215G>T, NC_000004.11:g.107249372G>C, NC_000004.11:g.107249372G>T, NG_028166.1:g.17606G>C, NG_028166.1:g.17606G>T, NM_004757.4:c.363G>C, NM_004757.4:c.363G>T, NM_004757.3:c.363G>C, NM_004757.3:c.363G>T, NM_001142415.2:c.363G>C, NM_001142415.2:c.363G>T, NM_001142415.1:c.363G>C, NM_001142415.1:c.363G>T, NM_001142416.2:c.363G>C, NM_001142416.2:c.363G>T, NM_001142416.1:c.435G>C, NM_001142416.1:c.435G>T, XM_017008835.3:c.363G>C, XM_017008835.3:c.363G>T, XM_017008835.2:c.363G>C, XM_017008835.2:c.363G>T, XM_017008835.1:c.363G>C, XM_017008835.1:c.363G>T, XM_047416410.1:c.363G>C, XM_047416410.1:c.363G>T, NP_004748.2:p.Lys121Asn, NP_004748.2:p.Lys121Asn, NP_001135887.1:p.Lys121Asn, NP_001135887.1:p.Lys121Asn, NP_001135888.2:p.Lys121Asn, NP_001135888.2:p.Lys121Asn, XP_016864324.1:p.Lys121Asn, XP_016864324.1:p.Lys121Asn, XP_047272366.1:p.Lys121Asn, XP_047272366.1:p.Lys121Asn

Select item 14684105320.

rs146841053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:106328209 (GRCh38)
4:107249366 (GRCh37)
Canonical SPDI:: NC_000004.12:106328208:C:G,NC_000004.12:106328208:C:T
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000386/19 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000223/1 (Estonian)
T=0.000259/1 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.001077/14 (GoESP)
T=0.001126/157 (GnomAD)
T=0.00203/10 (1000Genomes)
HGVS:: NC_000004.12:g.106328209C>G, NC_000004.12:g.106328209C>T, NC_000004.11:g.107249366C>G, NC_000004.11:g.107249366C>T, NG_028166.1:g.17600C>G, NG_028166.1:g.17600C>T, NM_004757.4:c.357C>G, NM_004757.4:c.357C>T, NM_004757.3:c.357C>G, NM_004757.3:c.357C>T, NM_001142415.2:c.357C>G, NM_001142415.2:c.357C>T, NM_001142415.1:c.357C>G, NM_001142415.1:c.357C>T, NM_001142416.2:c.357C>G, NM_001142416.2:c.357C>T, NM_001142416.1:c.429C>G, NM_001142416.1:c.429C>T, XM_017008835.3:c.357C>G, XM_017008835.3:c.357C>T, XM_017008835.2:c.357C>G, XM_017008835.2:c.357C>T, XM_017008835.1:c.357C>G, XM_017008835.1:c.357C>T, XM_047416410.1:c.357C>G, XM_047416410.1:c.357C>T, NP_004748.2:p.Asp119Glu, NP_001135887.1:p.Asp119Glu, NP_001135888.2:p.Asp119Glu, XP_016864324.1:p.Asp119Glu, XP_047272366.1:p.Asp119Glu

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