PLCG2 - SNP

Search results

Items: 1 to 20 of 96801

<< First< Prev

Page of 4841

Next >Last >>

Select item 10716441.

rs1071644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:81937798 (GRCh38)
16:81971403 (GRCh37)
Canonical SPDI:: NC_000016.10:81937797:T:C
Gene:: PLCG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.470824/49009 (ALFA)
C=0.266163/20947 (PAGE_STUDY)
C=0.292683/180 (Vietnamese)
C=0.311502/195 (Chileans)
C=0.312698/591 (HapMap)
C=0.312929/1567 (1000Genomes)
T=0.365385/19 (Siberian)
C=0.372031/98473 (TOPMED)
T=0.384375/123 (SGDP_PRJ)
C=0.388889/84 (Qatari)
C=0.390748/54729 (GnomAD)
C=0.4/16 (GENOME_DK)
C=0.403072/1181 (KOREAN)
C=0.404476/741 (Korea1K)
C=0.405602/5126 (GoESP)
C=0.412166/6908 (TOMMO)
T=0.419355/26 (PRJEB36033)
C=0.444959/110907 (GnomAD_exomes)
C=0.448666/54171 (ExAC)
T=0.461667/277 (NorthernSweden)
T=0.461924/461 (GoNL)
T=0.468254/531 (Daghestan)
T=0.471683/1749 (TWINSUK)
T=0.473684/144 (FINRISK)
T=0.473884/2123 (Estonian)
T=0.483134/1862 (ALSPAC)
T=0.488764/261 (MGP)
HGVS:: NC_000016.10:g.81937798T>C, NC_000016.9:g.81971403T>C, NG_032019.2:g.203702T>C, NM_002661.5:c.3093T>C, NM_002661.4:c.3093T>C, NM_002661.3:c.3093T>C

Select item 11436852.

rs1143685 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:81786163 (GRCh38)
16:81819768 (GRCh37)
Canonical SPDI:: NC_000016.10:81786162:T:A,NC_000016.10:81786162:T:C
Gene:: PLCG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.313829/44452 (ALFA)
T=0.089568/1501 (TOMMO)
T=0.103413/303 (KOREAN)
T=0.107533/197 (Korea1K)
T=0.195724/119 (Vietnamese)
T=0.215415/109 (SGDP_PRJ)
T=0.24/12 (Siberian)
T=0.25/284 (Daghestan)
T=0.26/156 (NorthernSweden)
T=0.264831/500 (HapMap)
T=0.272642/1365 (1000Genomes)
T=0.273005/67916 (GnomAD_exomes)
T=0.275228/33143 (ExAC)
T=0.289579/289 (GoNL)
T=0.299342/91 (FINRISK)
T=0.3/12 (GENOME_DK)
T=0.308251/1188 (ALSPAC)
T=0.308522/1144 (TWINSUK)
T=0.31444/83229 (TOPMED)
T=0.316942/44401 (GnomAD)
T=0.324074/70 (Qatari)
T=0.332008/4176 (GoESP)
T=0.3625/1624 (Estonian)
T=0.389513/208 (MGP)
HGVS:: NC_000016.10:g.81786163T>A, NC_000016.10:g.81786163T>C, NC_000016.9:g.81819768T>A, NC_000016.9:g.81819768T>C, NG_032019.2:g.52067C>T, NG_032019.2:g.52067C>A, NM_002661.5:c.174T>A, NM_002661.5:c.174T>C, NM_002661.4:c.174T>A, NM_002661.4:c.174T>C, NM_002661.3:c.174C>T, NM_002661.3:c.174C>A

LitVar

Select item 11436863.

rs1143686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 16:81854547 (GRCh38)
16:81888152 (GRCh37)
Canonical SPDI:: NC_000016.10:81854546:A:C,NC_000016.10:81854546:A:G,NC_000016.10:81854546:A:T
Gene:: PLCG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.287666/26425 (ALFA)
G=0.051948/32 (Vietnamese)
G=0.078431/24 (HapMap)
G=0.100341/294 (KOREAN)
G=0.103712/190 (Korea1K)
G=0.10981/1840 (TOMMO)
G=0.175926/38 (Qatari)
G=0.21143/1059 (1000Genomes)
G=0.249295/65986 (TOPMED)
G=0.255715/3244 (GoESP)
G=0.300701/1115 (TWINSUK)
G=0.312734/167 (MGP)
G=0.312922/1206 (ALSPAC)
G=0.337277/1511 (Estonian)
G=0.345395/105 (FINRISK)
G=0.35/14 (GENOME_DK)
G=0.350701/350 (GoNL)
G=0.352941/24 (PRJEB36033)
G=0.36/216 (NorthernSweden)
A=0.4/12 (Siberian)
A=0.460396/93 (SGDP_PRJ)
HGVS:: NC_000016.10:g.81854547A>C, NC_000016.10:g.81854547A>G, NC_000016.10:g.81854547A>T, NC_000016.9:g.81888152A>C, NC_000016.9:g.81888152A>G, NC_000016.9:g.81888152A>T, NG_032019.2:g.120451A>C, NG_032019.2:g.120451A>G, NG_032019.2:g.120451A>T, NM_002661.5:c.297A>C, NM_002661.5:c.297A>G, NM_002661.5:c.297A>T, NM_002661.4:c.297A>C, NM_002661.4:c.297A>G, NM_002661.4:c.297A>T, NM_002661.3:c.297A>C, NM_002661.3:c.297A>G, NM_002661.3:c.297A>T

Select item 11436874.

rs1143687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:81889208 (GRCh38)
16:81922813 (GRCh37)
Canonical SPDI:: NC_000016.10:81889207:C:T
Gene:: PLCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.066847/18647 (ALFA)
T=0.001092/2 (Korea1K)
T=0.001263/1 (PRJEB37584)
T=0.024828/124 (1000Genomes)
T=0.025/1 (GENOME_DK)
T=0.026667/16 (NorthernSweden)
T=0.027166/2138 (PAGE_STUDY)
T=0.032407/7 (Qatari)
T=0.035451/48 (HapMap)
T=0.045393/12015 (TOPMED)
T=0.046462/11244 (GnomAD_exomes)
T=0.046766/6450 (GnomAD)
T=0.047957/54 (Daghestan)
T=0.050639/626 (GoESP)
T=0.052902/237 (Estonian)
T=0.058116/58 (GoNL)
T=0.061754/238 (ALSPAC)
T=0.063517/5158 (ExAC)
T=0.068027/20 (FINRISK)
T=0.069579/258 (TWINSUK)
T=0.08427/45 (MGP)
C=0.5/1 (Siberian)
C=0.5/11 (SGDP_PRJ)
HGVS:: NC_000016.10:g.81889208C>T, NC_000016.9:g.81922813C>T, NG_032019.2:g.155112C>T, NM_002661.5:c.802C>T, NM_002661.4:c.802C>T, NM_002661.3:c.802C>T, NP_002652.2:p.Arg268Trp

PubMed

Select item 11436885.

rs1143688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:81895883 (GRCh38)
16:81929488 (GRCh37)
Canonical SPDI:: NC_000016.10:81895882:C:A,NC_000016.10:81895882:C:T
Gene:: PLCG2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.360171/22023 (ALFA)
T=0.282407/61 (Qatari)
T=0.28848/3651 (GoESP)
C=0.289078/847 (KOREAN)
C=0.289474/11 (Siberian)
C=0.30226/107 (SGDP_PRJ)
C=0.306037/5129 (TOMMO)
C=0.310458/190 (Vietnamese)
T=0.333402/46657 (GnomAD)
T=0.341524/90398 (TOPMED)
T=0.363538/1348 (TWINSUK)
T=0.366892/1414 (ALSPAC)
T=0.367041/196 (MGP)
T=0.377671/707 (HapMap)
T=0.395792/395 (GoNL)
T=0.403342/2020 (1000Genomes)
T=0.404605/123 (FINRISK)
T=0.415797/50205 (ExAC)
T=0.429202/107092 (GnomAD_exomes)
T=0.433333/260 (NorthernSweden)
T=0.441518/1978 (Estonian)
C=0.5/20 (GENOME_DK)
HGVS:: NC_000016.10:g.81895883C>A, NC_000016.10:g.81895883C>T, NC_000016.9:g.81929488C>A, NC_000016.9:g.81929488C>T, NG_032019.2:g.161787C>A, NG_032019.2:g.161787C>T, NM_002661.5:c.1149C>A, NM_002661.5:c.1149C>T, NM_002661.4:c.1149C>A, NM_002661.4:c.1149C>T, NM_002661.3:c.1149C>A, NM_002661.3:c.1149C>T, NP_002652.2:p.Asp383Glu

Select item 11436896.

rs1143689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:81907714 (GRCh38)
16:81941319 (GRCh37)
Canonical SPDI:: NC_000016.10:81907713:C:A,NC_000016.10:81907713:C:G,NC_000016.10:81907713:C:T
Gene:: PLCG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.232741/50017 (ALFA)
C=0.021519/17 (PRJEB37584)
C=0.024017/44 (Korea1K)
C=0.02628/77 (KOREAN)
C=0.031814/533 (TOMMO)
C=0.05719/35 (Vietnamese)
C=0.071429/4 (Siberian)
C=0.138258/73 (SGDP_PRJ)
C=0.166667/36 (Qatari)
C=0.177778/16 (PRJEB36033)
C=0.179942/375 (HGDP_Stanford)
C=0.191011/102 (MGP)
C=0.2/8 (GENOME_DK)
C=0.205/123 (NorthernSweden)
C=0.226562/1015 (Estonian)
C=0.230481/1154 (1000Genomes)
C=0.232465/232 (GoNL)
C=0.245955/912 (TWINSUK)
C=0.248704/19573 (PAGE_STUDY)
C=0.25/76 (FINRISK)
C=0.258173/995 (ALSPAC)
C=0.262364/69445 (TOPMED)
C=0.271493/38022 (GnomAD)
C=0.277481/3428 (GoESP)
HGVS:: NC_000016.10:g.81907714C>A, NC_000016.10:g.81907714C>G, NC_000016.10:g.81907714C>T, NC_000016.9:g.81941319C>A, NC_000016.9:g.81941319C>G, NC_000016.9:g.81941319C>T, NG_032019.2:g.173618C>A, NG_032019.2:g.173618C>G, NG_032019.2:g.173618C>T, NM_002661.5:c.1497C>A, NM_002661.5:c.1497C>G, NM_002661.5:c.1497C>T, NM_002661.4:c.1497C>A, NM_002661.4:c.1497C>G, NM_002661.4:c.1497C>T, NM_002661.3:c.1497C>A, NM_002661.3:c.1497C>G, NM_002661.3:c.1497C>T

PubMed

Select item 11436907.

rs1143690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:81936242 (GRCh38)
16:81969847 (GRCh37)
Canonical SPDI:: NC_000016.10:81936241:C:T
Gene:: PLCG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.009486/774 (ALFA)
T=0./0 (ALSPAC)
T=0.00006/1 (TOMMO)
T=0.000223/1 (Estonian)
T=0.000539/2 (TWINSUK)
T=0.005618/3 (MGP)
T=0.00639/4 (Chileans)
T=0.008558/2135 (GnomAD_exomes)
T=0.009259/2 (Qatari)
T=0.010015/1208 (ExAC)
T=0.032269/394 (GoESP)
T=0.03426/4802 (GnomAD)
T=0.035683/9445 (TOPMED)
T=0.040287/202 (1000Genomes)
C=0.5/7 (SGDP_PRJ)
HGVS:: NC_000016.10:g.81936242C>T, NC_000016.9:g.81969847C>T, NG_032019.2:g.202146C>T, NM_002661.5:c.2916C>T, NM_002661.4:c.2916C>T, NM_002661.3:c.2916C>T

Select item 38130098.

rs3813009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:81927353 (GRCh38)
16:81960958 (GRCh37)
Canonical SPDI:: NC_000016.10:81927352:G:A,NC_000016.10:81927352:G:C,NC_000016.10:81927352:G:T
Gene:: PLCG2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
C=0.027036/79 (KOREAN)
C=0.030022/55 (Korea1K)
C=0.037759/633 (TOMMO)
C=0.041667/33 (PRJEB37584)
C=0.091021/7163 (PAGE_STUDY)
C=0.091505/458 (1000Genomes)
C=0.113497/37 (HapMap)
C=0.12963/28 (Qatari)
C=0.141593/160 (Daghestan)
C=0.147153/38950 (TOPMED)
C=0.161596/22637 (GnomAD)
C=0.202805/752 (TWINSUK)
C=0.215101/829 (ALSPAC)
C=0.240481/240 (GoNL)
C=0.27155/1216 (Estonian)
C=0.298333/179 (NorthernSweden)
C=0.302326/26 (PRJEB36033)
C=0.325/13 (GENOME_DK)
G=0.375/9 (Siberian)
G=0.471154/49 (SGDP_PRJ)
HGVS:: NC_000016.10:g.81927353G>A, NC_000016.10:g.81927353G>C, NC_000016.10:g.81927353G>T, NC_000016.9:g.81960958G>A, NC_000016.9:g.81960958G>C, NC_000016.9:g.81960958G>T, NG_032019.2:g.193257G>A, NG_032019.2:g.193257G>C, NG_032019.2:g.193257G>T

Select item 39356259.

rs3935625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:81905422 (GRCh38)
16:81939027 (GRCh37)
Canonical SPDI:: NC_000016.10:81905421:G:A,NC_000016.10:81905421:G:C,NC_000016.10:81905421:G:T
Gene:: PLCG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0./0 (HapMap)
T=0./0 (TWINSUK)
T=0.000014/2 (GnomAD)
T=0.00002/5 (GnomAD_exomes)
T=0.000034/4 (ExAC)
T=0.000081/1 (GoESP)
T=0.000259/1 (ALSPAC)
HGVS:: NC_000016.10:g.81905422G>A, NC_000016.10:g.81905422G>C, NC_000016.10:g.81905422G>T, NC_000016.9:g.81939027G>A, NC_000016.9:g.81939027G>C, NC_000016.9:g.81939027G>T, NG_032019.2:g.171326G>A, NG_032019.2:g.171326G>C, NG_032019.2:g.171326G>T, NM_002661.5:c.1382G>A, NM_002661.5:c.1382G>C, NM_002661.5:c.1382G>T, NM_002661.4:c.1382G>A, NM_002661.4:c.1382G>C, NM_002661.4:c.1382G>T, NM_002661.3:c.1382G>A, NM_002661.3:c.1382G>C, NM_002661.3:c.1382G>T, NP_002652.2:p.Arg461Gln, NP_002652.2:p.Arg461Pro, NP_002652.2:p.Arg461Leu

Select item 407282810.

rs4072828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:81854632 (GRCh38)
16:81888237 (GRCh37)
Canonical SPDI:: NC_000016.10:81854631:G:A,NC_000016.10:81854631:G:C,NC_000016.10:81854631:G:T
Gene:: PLCG2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/2 (ALFA)
C=0.028428/17 (Vietnamese)
C=0.100341/294 (KOREAN)
C=0.103712/190 (Korea1K)
C=0.109739/1839 (TOMMO)
C=0.175926/38 (Qatari)
C=0.175991/302 (HapMap)
C=0.211118/1057 (1000Genomes)
C=0.249144/65946 (TOPMED)
C=0.254165/3204 (GoESP)
C=0.300162/1113 (TWINSUK)
C=0.313181/1207 (ALSPAC)
C=0.314607/168 (MGP)
C=0.33683/1509 (Estonian)
C=0.345395/105 (FINRISK)
C=0.348697/348 (GoNL)
C=0.35/14 (GENOME_DK)
C=0.358333/215 (NorthernSweden)
G=0.4/12 (Siberian)
G=0.460396/93 (SGDP_PRJ)
HGVS:: NC_000016.10:g.81854632G>A, NC_000016.10:g.81854632G>C, NC_000016.10:g.81854632G>T, NC_000016.9:g.81888237G>A, NC_000016.9:g.81888237G>C, NC_000016.9:g.81888237G>T, NG_032019.2:g.120536G>A, NG_032019.2:g.120536G>C, NG_032019.2:g.120536G>T

Select item 407283011.

rs4072830 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 16:81854352 (GRCh38)
16:81887957 (GRCh37)
Canonical SPDI:: NC_000016.10:81854351:A:C,NC_000016.10:81854351:A:T
Gene:: PLCG2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.206261/2787 (ALFA)
C=0.102389/300 (KOREAN)
C=0.105349/193 (Korea1K)
C=0.112605/1887 (TOMMO)
C=0.189815/41 (Qatari)
C=0.237976/1192 (1000Genomes)
C=0.272149/72035 (TOPMED)
C=0.283969/39771 (GnomAD)
C=0.307116/164 (MGP)
C=0.335491/1244 (TWINSUK)
C=0.344058/1326 (ALSPAC)
C=0.352009/1577 (Estonian)
C=0.375/15 (GENOME_DK)
C=0.381764/381 (GoNL)
C=0.393333/236 (NorthernSweden)
A=0.4/12 (Siberian)
A=0.444444/96 (SGDP_PRJ)
HGVS:: NC_000016.10:g.81854352A>C, NC_000016.10:g.81854352A>T, NC_000016.9:g.81887957A>C, NC_000016.9:g.81887957A>T, NG_032019.2:g.120256A>C, NG_032019.2:g.120256A>T

Select item 407283112.

rs4072831 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:81854298 (GRCh38)
16:81887903 (GRCh37)
Canonical SPDI:: NC_000016.10:81854297:A:G
Gene:: PLCG2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.292324/5522 (ALFA)
G=0.042453/9 (Vietnamese)
G=0.099251/53 (MGP)
G=0.101024/296 (KOREAN)
G=0.103712/190 (Korea1K)
G=0.109845/1841 (TOMMO)
G=0.175926/38 (Qatari)
G=0.21143/1059 (1000Genomes)
G=0.249314/65991 (TOPMED)
G=0.260201/36426 (GnomAD)
G=0.300431/1114 (TWINSUK)
G=0.31396/1210 (ALSPAC)
G=0.337277/1511 (Estonian)
G=0.349699/349 (GoNL)
G=0.35/14 (GENOME_DK)
G=0.358333/215 (NorthernSweden)
A=0.4/12 (Siberian)
G=0.4375/28 (PRJEB36033)
A=0.455446/92 (SGDP_PRJ)
HGVS:: NC_000016.10:g.81854298A>G, NC_000016.9:g.81887903A>G, NG_032019.2:g.120202A>G

Select item 424322213.

rs4243222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:81912818 (GRCh38)
16:81946423 (GRCh37)
Canonical SPDI:: NC_000016.10:81912817:C:G,NC_000016.10:81912817:C:T
Gene:: PLCG2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.410736/96550 (ALFA)
C=0.179181/525 (KOREAN)
C=0.187342/148 (PRJEB37584)
C=0.194323/356 (Korea1K)
C=0.259183/4344 (TOMMO)
C=0.261905/11 (Siberian)
C=0.280374/60 (Vietnamese)
C=0.308962/131 (SGDP_PRJ)
T=0.336161/1506 (Estonian)
T=0.36/216 (NorthernSweden)
T=0.369739/369 (GoNL)
T=0.385833/1487 (ALSPAC)
T=0.4/16 (GENOME_DK)
T=0.403991/1498 (TWINSUK)
T=0.406727/56980 (GnomAD)
T=0.430889/114052 (TOPMED)
T=0.47191/252 (MGP)
C=0.481481/104 (Qatari)
T=0.498595/2497 (1000Genomes)
HGVS:: NC_000016.10:g.81912818C>G, NC_000016.10:g.81912818C>T, NC_000016.9:g.81946423C>G, NC_000016.9:g.81946423C>T, NG_032019.2:g.178722C>G, NG_032019.2:g.178722C>T

Select item 424322314.

rs4243223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:81912866 (GRCh38)
16:81946471 (GRCh37)
Canonical SPDI:: NC_000016.10:81912865:G:A,NC_000016.10:81912865:G:C,NC_000016.10:81912865:G:T
Gene:: PLCG2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.34742/9035 (ALFA)
G=0.178157/522 (KOREAN)
G=0.194323/356 (Korea1K)
G=0.25/53 (Vietnamese)
G=0.259006/4341 (TOMMO)
G=0.261905/11 (Siberian)
G=0.311321/132 (SGDP_PRJ)
T=0.336161/1506 (Estonian)
T=0.36/216 (NorthernSweden)
T=0.369739/369 (GoNL)
T=0.386092/1488 (ALSPAC)
T=0.391386/209 (MGP)
T=0.4/16 (GENOME_DK)
T=0.404261/1499 (TWINSUK)
T=0.406963/57035 (GnomAD)
T=0.431165/114125 (TOPMED)
G=0.476852/103 (Qatari)
T=0.499063/2499 (1000Genomes)
HGVS:: NC_000016.10:g.81912866G>A, NC_000016.10:g.81912866G>C, NC_000016.10:g.81912866G>T, NC_000016.9:g.81946471G>A, NC_000016.9:g.81946471G>C, NC_000016.9:g.81946471G>T, NG_032019.2:g.178770G>A, NG_032019.2:g.178770G>C, NG_032019.2:g.178770G>T

Select item 425860815.

rs4258608 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:81937977 (GRCh38)
16:81971582 (GRCh37)
Canonical SPDI:: NC_000016.10:81937976:A:G,NC_000016.10:81937976:A:T
Gene:: PLCG2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.277175/38784 (ALFA)
G=0.055631/163 (KOREAN)
G=0.058952/108 (Korea1K)
G=0.092593/20 (Vietnamese)
G=0.098981/1659 (TOMMO)
G=0.140449/75 (MGP)
G=0.239955/1075 (Estonian)
G=0.241667/145 (NorthernSweden)
G=0.258517/258 (GoNL)
G=0.281014/1042 (TWINSUK)
G=0.293721/1132 (ALSPAC)
A=0.337838/75 (SGDP_PRJ)
G=0.35/14 (GENOME_DK)
G=0.37037/80 (Qatari)
G=0.38148/1910 (1000Genomes)
G=0.406079/107485 (TOPMED)
A=0.5/10 (Siberian)
HGVS:: NC_000016.10:g.81937977A>G, NC_000016.10:g.81937977A>T, NC_000016.9:g.81971582A>G, NC_000016.9:g.81971582A>T, NG_032019.2:g.203881A>G, NG_032019.2:g.203881A>T

Select item 426438716.

rs4264387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:81905632 (GRCh38)
16:81939237 (GRCh37)
Canonical SPDI:: NC_000016.10:81905631:C:G,NC_000016.10:81905631:C:T
Gene:: PLCG2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.239462/5738 (ALFA)
C=0.023472/43 (Korea1K)
C=0.02628/77 (KOREAN)
C=0.031814/533 (TOMMO)
C=0.042453/9 (Vietnamese)
C=0.071429/4 (Siberian)
C=0.135496/71 (SGDP_PRJ)
C=0.171296/37 (Qatari)
C=0.2/8 (GENOME_DK)
C=0.218333/131 (NorthernSweden)
C=0.221875/994 (Estonian)
C=0.224235/1123 (1000Genomes)
C=0.229459/229 (GoNL)
C=0.233615/442 (HapMap)
C=0.238673/885 (TWINSUK)
C=0.246497/950 (ALSPAC)
C=0.256734/67955 (TOPMED)
C=0.26638/37299 (GnomAD)
T=0.269663/144 (MGP)
HGVS:: NC_000016.10:g.81905632C>G, NC_000016.10:g.81905632C>T, NC_000016.9:g.81939237C>G, NC_000016.9:g.81939237C>T, NG_032019.2:g.171536C>G, NG_032019.2:g.171536C>T

Select item 429481117.

rs4294811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:81786215 (GRCh38)
16:81819820 (GRCh37)
Canonical SPDI:: NC_000016.10:81786214:G:A,NC_000016.10:81786214:G:C,NC_000016.10:81786214:G:T
Gene:: PLCG2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000029/1 (ALFA)
A=0.186607/836 (Estonian)
A=0.2276/2845 (GoESP)
A=0.23/138 (NorthernSweden)
A=0.249064/133 (MGP)
A=0.257395/992 (ALSPAC)
A=0.25836/958 (TWINSUK)
A=0.261495/69215 (TOPMED)
A=0.274549/274 (GoNL)
A=0.275/11 (GENOME_DK)
A=0.281699/1411 (1000Genomes)
A=0.281843/31094 (ExAC)
A=0.324074/70 (Qatari)
G=0.392857/11 (Siberian)
G=0.397059/108 (SGDP_PRJ)
G=0.425939/1248 (KOREAN)
G=0.436135/799 (Korea1K)
G=0.471866/7908 (TOMMO)
G=0.485849/103 (Vietnamese)
HGVS:: NC_000016.10:g.81786215G>A, NC_000016.10:g.81786215G>C, NC_000016.10:g.81786215G>T, NC_000016.9:g.81819820G>A, NC_000016.9:g.81819820G>C, NC_000016.9:g.81819820G>T, NG_032019.2:g.52119G>A, NG_032019.2:g.52119G>C, NG_032019.2:g.52119G>T, NG_080429.1:g.12G>A, NG_080429.1:g.12G>C, NG_080429.1:g.12G>T

Select item 434173418.

rs4341734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:81858393 (GRCh38)
16:81891998 (GRCh37)
Canonical SPDI:: NC_000016.10:81858392:G:C,NC_000016.10:81858392:G:T
Gene:: PLCG2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.202483/5448 (ALFA)
G=0.089286/5 (Siberian)
G=0.131667/79 (NorthernSweden)
G=0.140402/629 (Estonian)
G=0.150301/150 (GoNL)
G=0.179775/96 (MGP)
G=0.182/91 (SGDP_PRJ)
G=0.182408/703 (ALSPAC)
G=0.183979/209 (Daghestan)
G=0.192017/712 (TWINSUK)
G=0.203704/44 (Qatari)
G=0.209665/25291 (ExAC)
G=0.246496/3025 (GoESP)
G=0.251072/35136 (GnomAD)
G=0.252381/53 (Vietnamese)
G=0.265699/70328 (TOPMED)
G=0.289761/849 (KOREAN)
G=0.29747/1490 (1000Genomes)
G=0.3/12 (GENOME_DK)
G=0.303493/556 (Korea1K)
G=0.340576/5708 (TOMMO)
HGVS:: NC_000016.10:g.81858393G>C, NC_000016.10:g.81858393G>T, NC_000016.9:g.81891998G>C, NC_000016.9:g.81891998G>T, NG_032019.2:g.124297G>C, NG_032019.2:g.124297G>T

Select item 435492919.

rs4354929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:81785881 (GRCh38)
16:81819486 (GRCh37)
Canonical SPDI:: NC_000016.10:81785880:C:A,NC_000016.10:81785880:C:G
Gene:: PLCG2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.447433/8452 (ALFA)
G=0.268868/57 (Vietnamese)
C=0.28125/9 (Siberian)
G=0.32138/941 (KOREAN)
G=0.324236/594 (Korea1K)
C=0.337838/125 (SGDP_PRJ)
G=0.351852/76 (Qatari)
G=0.361423/193 (MGP)
G=0.377238/6323 (TOMMO)
G=0.435545/1615 (TWINSUK)
G=0.43617/1681 (ALSPAC)
G=0.438298/116013 (TOPMED)
G=0.442886/442 (GoNL)
G=0.447331/62621 (GnomAD)
G=0.45/18 (GENOME_DK)
G=0.457366/2049 (Estonian)
G=0.46065/2307 (1000Genomes)
C=0.49/294 (NorthernSweden)
HGVS:: NC_000016.10:g.81785881C>A, NC_000016.10:g.81785881C>G, NC_000016.9:g.81819486C>A, NC_000016.9:g.81819486C>G, NG_032019.2:g.51785C>A, NG_032019.2:g.51785C>G

Select item 436670220.

rs4366702 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 16:81928466 (GRCh38)
16:81962071 (GRCh37)
Canonical SPDI:: NC_000016.10:81928465:A:C,NC_000016.10:81928465:A:G,NC_000016.10:81928465:A:T
Gene:: PLCG2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.372708/4310 (ALFA)
T=0./0 (KOREAN)
A=0.074074/4 (Siberian)
A=0.155568/285 (Korea1K)
A=0.175/7 (GENOME_DK)
A=0.198113/42 (Vietnamese)
A=0.213484/3578 (TOMMO)
A=0.217647/111 (SGDP_PRJ)
A=0.250389/965 (ALSPAC)
A=0.254045/942 (TWINSUK)
A=0.261523/261 (GoNL)
A=0.271667/163 (NorthernSweden)
A=0.285491/1279 (Estonian)
A=0.312305/1564 (1000Genomes)
A=0.314815/68 (Qatari)
A=0.316929/83888 (TOPMED)
C=0.473783/253 (MGP)
HGVS:: NC_000016.10:g.81928466A>C, NC_000016.10:g.81928466A>G, NC_000016.10:g.81928466A>T, NC_000016.9:g.81962071A>C, NC_000016.9:g.81962071A>G, NC_000016.9:g.81962071A>T, NG_032019.2:g.194370A>C, NG_032019.2:g.194370A>G, NG_032019.2:g.194370A>T

<< First< Prev

Page of 4841

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 1 to 20 of 96801

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity