FCER2 - SNP

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Select item 3768225991.

rs376822599 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:7689205 (GRCh38)
19:7754091 (GRCh37)
Canonical SPDI:: NC_000019.10:7689204:A:
Gene:: FCER2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000045/4 (ALFA)
-=0.000596/148 (GnomAD_exomes)
-=0.000735/85 (ExAC)
-=0.002237/28 (GoESP)
-=0.002694/713 (TOPMED)
-=0.002831/397 (GnomAD)
-=0.003748/19 (1000Genomes)
-=0.004028/317 (PAGE_STUDY)
HGVS:: NC_000019.10:g.7689205del, NC_000019.9:g.7754091del, NG_029554.1:g.17942del, NM_002002.5:c.954del, NM_002002.4:c.954del, NM_001207019.3:c.951del, NM_001207019.2:c.951del, NM_001220500.2:c.954del, NM_001220500.1:c.954del, XM_005272462.5:c.954del, XM_005272462.4:c.954del, XM_005272462.3:c.954del, XM_005272462.2:c.954del, XM_005272462.1:c.954del, NP_001993.2:p.Leu319fs, NP_001193948.2:p.Leu318fs, NP_001207429.1:p.Leu319fs, XP_005272519.1:p.Leu319fs

Select item 8891822.

rs889182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:7700380 (GRCh38)
19:7765266 (GRCh37)
Canonical SPDI:: NC_000019.10:7700379:G:A,NC_000019.10:7700379:G:T
Gene:: FCER2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.307945/5729 (ALFA)
G=0.129913/238 (Korea1K)
G=0.137201/402 (KOREAN)
G=0.142402/2387 (TOMMO)
G=0.175/7 (GENOME_DK)
G=0.181641/93 (SGDP_PRJ)
G=0.219626/47 (Vietnamese)
G=0.232143/13 (Siberian)
G=0.260714/1168 (Estonian)
G=0.287575/287 (GoNL)
G=0.289819/1451 (1000Genomes)
G=0.297755/1565 (PharmGKB)
G=0.29917/1153 (ALSPAC)
G=0.299892/1112 (TWINSUK)
G=0.303333/182 (NorthernSweden)
G=0.31105/24479 (PAGE_STUDY)
G=0.318777/84377 (TOPMED)
G=0.320962/44918 (GnomAD)
G=0.393519/85 (Qatari)
HGVS:: NC_000019.10:g.7700380G>A, NC_000019.10:g.7700380G>T, NC_000019.9:g.7765266G>A, NC_000019.9:g.7765266G>T, NG_029554.1:g.6767C>T, NG_029554.1:g.6767C>A

PubMed

Select item 10424293.

rs1042429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7690197 (GRCh38)
19:7755083 (GRCh37)
Canonical SPDI:: NC_000019.10:7690196:C:T
Gene:: FCER2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.012603/622 (ALFA)
T=0.002498/13 (1000Genomes)
T=0.003745/2 (MGP)
T=0.007749/2051 (TOPMED)
T=0.008081/980 (ExAC)
T=0.008095/2035 (GnomAD_exomes)
T=0.008292/1163 (GnomAD)
T=0.009868/3 (FINRISK)
T=0.009995/130 (GoESP)
T=0.010518/39 (TWINSUK)
T=0.010638/41 (ALSPAC)
T=0.01503/15 (GoNL)
T=0.016741/75 (Estonian)
T=0.022887/26 (Daghestan)
HGVS:: NC_000019.10:g.7690197C>T, NC_000019.9:g.7755083C>T, NG_029554.1:g.16950G>A, NM_002002.5:c.690G>A, NM_002002.4:c.690G>A, NM_001207019.3:c.687G>A, NM_001207019.2:c.687G>A, NM_001220500.2:c.690G>A, NM_001220500.1:c.690G>A, XM_005272462.5:c.690G>A, XM_005272462.4:c.690G>A, XM_005272462.3:c.690G>A, XM_005272462.2:c.690G>A, XM_005272462.1:c.690G>A

Select item 19909754.

rs1990975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 19:7701388 (GRCh38)
19:7766274 (GRCh37)
Canonical SPDI:: NC_000019.10:7701387:T:A,NC_000019.10:7701387:T:C,NC_000019.10:7701387:T:G
Gene:: FCER2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.293329/56453 (ALFA)
G=0./0 (KOREAN)
T=0.129367/237 (Korea1K)
T=0.141694/2375 (TOMMO)
T=0.175/7 (GENOME_DK)
T=0.186538/97 (SGDP_PRJ)
T=0.232143/13 (Siberian)
T=0.260268/1166 (Estonian)
T=0.269674/562 (HGDP_Stanford)
T=0.278541/527 (HapMap)
T=0.285571/285 (GoNL)
T=0.28732/1439 (1000Genomes)
T=0.297465/1103 (TWINSUK)
T=0.298132/1149 (ALSPAC)
T=0.299379/1349 (PharmGKB)
T=0.305/183 (NorthernSweden)
T=0.316638/83811 (TOPMED)
T=0.319147/44634 (GnomAD)
T=0.375/30 (PRJEB36033)
T=0.388889/84 (Qatari)
HGVS:: NC_000019.10:g.7701388T>A, NC_000019.10:g.7701388T>C, NC_000019.10:g.7701388T>G, NC_000019.9:g.7766274T>A, NC_000019.9:g.7766274T>C, NC_000019.9:g.7766274T>G, NG_029554.1:g.5759A>T, NG_029554.1:g.5759A>G, NG_029554.1:g.5759A>C

Select item 22281375.

rs2228137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:7698362 (GRCh38)
19:7763248 (GRCh37)
Canonical SPDI:: NC_000019.10:7698361:G:A,NC_000019.10:7698361:G:C
Gene:: FCER2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.139885/51820 (ALFA)
A=0.021277/2 (PRJEB36033)
A=0.049624/145 (KOREAN)
A=0.085459/67 (PRJEB37584)
A=0.114094/68 (Vietnamese)
A=0.120759/541 (Estonian)
A=0.13/39 (FINRISK)
A=0.139279/139 (GoNL)
A=0.145823/562 (ALSPAC)
A=0.154261/572 (TWINSUK)
A=0.155844/696 (PharmGKB)
A=0.159176/85 (MGP)
A=0.175/7 (GENOME_DK)
A=0.181076/377 (HGDP_Stanford)
A=0.185145/49006 (TOPMED)
A=0.186667/112 (NorthernSweden)
A=0.193319/15196 (PAGE_STUDY)
A=0.195141/2538 (GoESP)
A=0.204872/1026 (1000Genomes)
A=0.229101/433 (HapMap)
A=0.319444/69 (Qatari)
G=0.426136/75 (SGDP_PRJ)
G=0.5/5 (Siberian)
HGVS:: NC_000019.10:g.7698362G>A, NC_000019.10:g.7698362G>C, NC_000019.9:g.7763248G>A, NC_000019.9:g.7763248G>C, NG_029554.1:g.8785C>T, NG_029554.1:g.8785C>G, NM_002002.5:c.184C>T, NM_002002.5:c.184C>G, NM_002002.4:c.184C>T, NM_002002.4:c.184C>G, NM_001207019.3:c.181C>T, NM_001207019.3:c.181C>G, NM_001207019.2:c.181C>T, NM_001207019.2:c.181C>G, NM_001220500.2:c.184C>T, NM_001220500.2:c.184C>G, NM_001220500.1:c.184C>T, NM_001220500.1:c.184C>G, XM_005272462.5:c.184C>T, XM_005272462.5:c.184C>G, XM_005272462.4:c.184C>T, XM_005272462.4:c.184C>G, XM_005272462.3:c.184C>T, XM_005272462.3:c.184C>G, XM_005272462.2:c.184C>T, XM_005272462.2:c.184C>G, XM_005272462.1:c.184C>T, XM_005272462.1:c.184C>G, NP_001993.2:p.Arg62Trp, NP_001993.2:p.Arg62Gly, NP_001193948.2:p.Arg61Trp, NP_001193948.2:p.Arg61Gly, NP_001207429.1:p.Arg62Trp, NP_001207429.1:p.Arg62Gly, XP_005272519.1:p.Arg62Trp, XP_005272519.1:p.Arg62Gly

PubMed

Select item 22281386.

rs2228138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:7690170 (GRCh38)
19:7755056 (GRCh37)
Canonical SPDI:: NC_000019.10:7690169:G:A,NC_000019.10:7690169:G:C
Gene:: FCER2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.271715/12369 (ALFA)
A=0.240132/73 (FINRISK)
A=0.26898/248 (PharmGKB)
A=0.271666/1047 (ALSPAC)
A=0.275223/1233 (Estonian)
A=0.277555/277 (GoNL)
A=0.288593/845 (KOREAN)
A=0.293333/176 (NorthernSweden)
A=0.295306/541 (Korea1K)
A=0.299353/1110 (TWINSUK)
A=0.3/12 (GENOME_DK)
A=0.320225/171 (MGP)
G=0.34058/94 (SGDP_PRJ)
A=0.363599/96241 (TOPMED)
A=0.372443/4844 (GoESP)
A=0.398813/1997 (1000Genomes)
A=0.408264/247 (Vietnamese)
A=0.490741/106 (Qatari)
G=0.5/10 (Siberian)
HGVS:: NC_000019.10:g.7690170G>A, NC_000019.10:g.7690170G>C, NC_000019.9:g.7755056G>A, NC_000019.9:g.7755056G>C, NG_029554.1:g.16977C>T, NG_029554.1:g.16977C>G, NM_002002.5:c.717C>T, NM_002002.5:c.717C>G, NM_002002.4:c.717C>T, NM_002002.4:c.717C>G, NM_001207019.3:c.714C>T, NM_001207019.3:c.714C>G, NM_001207019.2:c.714C>T, NM_001207019.2:c.714C>G, NM_001220500.2:c.717C>T, NM_001220500.2:c.717C>G, NM_001220500.1:c.717C>T, NM_001220500.1:c.717C>G, XM_005272462.5:c.717C>T, XM_005272462.5:c.717C>G, XM_005272462.4:c.717C>T, XM_005272462.4:c.717C>G, XM_005272462.3:c.717C>T, XM_005272462.3:c.717C>G, XM_005272462.2:c.717C>T, XM_005272462.2:c.717C>G, XM_005272462.1:c.717C>T, XM_005272462.1:c.717C>G, NP_001993.2:p.His239Gln, NP_001193948.2:p.His238Gln, NP_001207429.1:p.His239Gln, XP_005272519.1:p.His239Gln

PubMed

Select item 22292297.

rs2229229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:7690188 (GRCh38)
19:7755074 (GRCh37)
Canonical SPDI:: NC_000019.10:7690187:G:A
Gene:: FCER2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000064/16 (GnomAD_exomes)
A=0.000074/9 (ExAC)
A=0.000235/33 (GnomAD)
A=0.000242/64 (TOPMED)
A=0.000312/2 (1000Genomes)
A=0.000461/6 (GoESP)
HGVS:: NC_000019.10:g.7690188G>A, NC_000019.9:g.7755074G>A, NG_029554.1:g.16959C>T, NM_002002.5:c.699C>T, NM_002002.4:c.699C>T, NM_001207019.3:c.696C>T, NM_001207019.2:c.696C>T, NM_001220500.2:c.699C>T, NM_001220500.1:c.699C>T, XM_005272462.5:c.699C>T, XM_005272462.4:c.699C>T, XM_005272462.3:c.699C>T, XM_005272462.2:c.699C>T, XM_005272462.1:c.699C>T

Select item 22292308.

rs2229230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:7689340 (GRCh38)
19:7754226 (GRCh37)
Canonical SPDI:: NC_000019.10:7689339:G:A
Gene:: FCER2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001601/74 (ALFA)
A=0.000035/1 (TOMMO)
A=0.001405/341 (GnomAD_exomes)
A=0.001793/184 (ExAC)
A=0.00463/1 (Qatari)
A=0.004841/24 (1000Genomes)
A=0.005704/800 (GnomAD)
A=0.005848/1548 (TOPMED)
A=0.006695/87 (GoESP)
A=0.011749/18 (HapMap)
A=0.033333/3 (PharmGKB)
G=0.5/5 (SGDP_PRJ)
HGVS:: NC_000019.10:g.7689340G>A, NC_000019.9:g.7754226G>A, NG_029554.1:g.17807C>T, NM_002002.5:c.819C>T, NM_002002.4:c.819C>T, NM_001207019.3:c.816C>T, NM_001207019.2:c.816C>T, NM_001220500.2:c.819C>T, NM_001220500.1:c.819C>T, XM_005272462.5:c.819C>T, XM_005272462.4:c.819C>T, XM_005272462.3:c.819C>T, XM_005272462.2:c.819C>T, XM_005272462.1:c.819C>T

Select item 22779899.

rs2277989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 19:7696926 (GRCh38)
19:7761812 (GRCh37)
Canonical SPDI:: NC_000019.10:7696925:A:C,NC_000019.10:7696925:A:G,NC_000019.10:7696925:A:T
Gene:: FCER2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.482486/101379 (ALFA)
A=0.277512/116 (SGDP_PRJ)
G=0.346238/5803 (TOMMO)
A=0.352537/667 (HapMap)
A=0.356481/77 (Qatari)
G=0.363295/1063 (KOREAN)
A=0.386165/1934 (1000Genomes)
A=0.394129/104322 (TOPMED)
A=0.398261/5175 (GoESP)
A=0.406467/56907 (GnomAD)
A=0.407931/19123 (ExAC)
G=0.409389/750 (Korea1K)
G=0.432584/231 (MGP)
A=0.44186/38 (PRJEB36033)
A=0.455374/949 (HGDP_Stanford)
A=0.464286/13 (Siberian)
G=0.475/19 (GENOME_DK)
A=0.477179/88280 (GnomAD_exomes)
G=0.478333/287 (NorthernSweden)
G=0.480799/1853 (ALSPAC)
G=0.480804/2154 (Estonian)
G=0.485342/298 (Vietnamese)
A=0.494792/475 (PharmGKB)
G=0.49499/494 (GoNL)
G=0.497573/1845 (TWINSUK)
HGVS:: NC_000019.10:g.7696926A>C, NC_000019.10:g.7696926A>G, NC_000019.10:g.7696926A>T, NC_000019.9:g.7761812A>C, NC_000019.9:g.7761812A>G, NC_000019.9:g.7761812A>T, NG_029554.1:g.10221T>G, NG_029554.1:g.10221T>C, NG_029554.1:g.10221T>A

PubMed

Select item 227799010.

rs2277990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:7690859 (GRCh38)
19:7755745 (GRCh37)
Canonical SPDI:: NC_000019.10:7690858:A:G
Gene:: FCER2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.320646/6057 (ALFA)
G=0.001873/1 (MGP)
G=0.228006/3821 (TOMMO)
G=0.271925/1048 (ALSPAC)
G=0.27567/1235 (Estonian)
G=0.278557/278 (GoNL)
G=0.289959/849 (KOREAN)
G=0.293333/176 (NorthernSweden)
G=0.29476/540 (Korea1K)
G=0.299892/1112 (TWINSUK)
A=0.35/98 (SGDP_PRJ)
G=0.352446/49303 (GnomAD)
G=0.355903/94204 (TOPMED)
G=0.384259/83 (Vietnamese)
G=0.388819/1947 (1000Genomes)
G=0.486111/105 (Qatari)
A=0.5/10 (Siberian)
HGVS:: NC_000019.10:g.7690859A>G, NC_000019.9:g.7755745A>G, NG_029554.1:g.16288T>C

Select item 227799111.

rs2277991 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:7690830 (GRCh38)
19:7755716 (GRCh37)
Canonical SPDI:: NC_000019.10:7690829:A:G
Gene:: FCER2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.289994/88207 (ALFA)
G=0.001873/1 (MGP)
G=0.228376/3828 (TOMMO)
G=0.271925/1048 (ALSPAC)
G=0.275893/1236 (Estonian)
G=0.278557/278 (GoNL)
G=0.285714/28 (PRJEB36033)
G=0.289854/59442 (GENOGRAPHIC)
G=0.290444/851 (KOREAN)
G=0.293333/176 (NorthernSweden)
G=0.29476/540 (Korea1K)
G=0.299083/1109 (TWINSUK)
G=0.321795/251 (PRJEB37584)
G=0.334135/695 (HGDP_Stanford)
A=0.35/98 (SGDP_PRJ)
G=0.35264/49328 (GnomAD)
G=0.35602/94235 (TOPMED)
G=0.377555/29703 (PAGE_STUDY)
G=0.382075/81 (Vietnamese)
G=0.388819/1947 (1000Genomes)
G=0.42963/812 (HapMap)
G=0.486111/105 (Qatari)
A=0.5/10 (Siberian)
HGVS:: NC_000019.10:g.7690830A>G, NC_000019.9:g.7755716A>G, NG_029554.1:g.16317T>C

Select item 227799212.

rs2277992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:7690696 (GRCh38)
19:7755582 (GRCh37)
Canonical SPDI:: NC_000019.10:7690695:A:G
Gene:: FCER2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.319058/6027 (ALFA)
G=0.007491/4 (MGP)
G=0.228412/3828 (TOMMO)
G=0.270887/1044 (ALSPAC)
G=0.275223/1233 (Estonian)
G=0.277555/277 (GoNL)
G=0.289761/849 (KOREAN)
G=0.293333/176 (NorthernSweden)
G=0.29476/540 (Korea1K)
G=0.295577/1096 (TWINSUK)
G=0.349105/48814 (GnomAD)
A=0.35/98 (SGDP_PRJ)
G=0.352257/93239 (TOPMED)
G=0.385228/1929 (1000Genomes)
G=0.395238/83 (Vietnamese)
G=0.481481/104 (Qatari)
A=0.5/10 (Siberian)
HGVS:: NC_000019.10:g.7690696A>G, NC_000019.9:g.7755582A>G, NG_029554.1:g.16451T>C

PubMed

Select item 227799313.

rs2277993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:7690685 (GRCh38)
19:7755571 (GRCh37)
Canonical SPDI:: NC_000019.10:7690684:G:A,NC_000019.10:7690684:G:T
Gene:: FCER2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.161435/1985 (ALFA)
A=0.009363/5 (MGP)
A=0.228447/3828 (TOMMO)
A=0.270887/1044 (ALSPAC)
A=0.275893/1236 (Estonian)
A=0.278557/278 (GoNL)
A=0.289761/849 (KOREAN)
A=0.293333/176 (NorthernSweden)
A=0.29476/540 (Korea1K)
A=0.295847/1097 (TWINSUK)
G=0.35/98 (SGDP_PRJ)
A=0.356039/94240 (TOPMED)
A=0.388819/1947 (1000Genomes)
A=0.4/84 (Vietnamese)
A=0.486111/105 (Qatari)
G=0.5/10 (Siberian)
HGVS:: NC_000019.10:g.7690685G>A, NC_000019.10:g.7690685G>T, NC_000019.9:g.7755571G>A, NC_000019.9:g.7755571G>T, NG_029554.1:g.16462C>T, NG_029554.1:g.16462C>A

PubMed

Select item 227799414.

rs2277994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:7690632 (GRCh38)
19:7755518 (GRCh37)
Canonical SPDI:: NC_000019.10:7690631:A:C,NC_000019.10:7690631:A:G
Gene:: FCER2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.30809/5484 (ALFA)
G=0.228518/3830 (TOMMO)
G=0.246497/950 (ALSPAC)
G=0.264833/982 (TWINSUK)
G=0.275551/275 (GoNL)
G=0.276116/1237 (Estonian)
G=0.289959/849 (KOREAN)
G=0.293333/176 (NorthernSweden)
G=0.29476/540 (Korea1K)
A=0.35/98 (SGDP_PRJ)
G=0.352735/49313 (GnomAD)
G=0.356016/94234 (TOPMED)
G=0.388819/1947 (1000Genomes)
G=0.409524/86 (Vietnamese)
G=0.486111/105 (Qatari)
A=0.5/10 (Siberian)
HGVS:: NC_000019.10:g.7690632A>C, NC_000019.10:g.7690632A>G, NC_000019.9:g.7755518A>C, NC_000019.9:g.7755518A>G, NG_029554.1:g.16515T>G, NG_029554.1:g.16515T>C

PubMed

Select item 227799515.

rs2277995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 19:7690583 (GRCh38)
19:7755469 (GRCh37)
Canonical SPDI:: NC_000019.10:7690582:T:A,NC_000019.10:7690582:T:C,NC_000019.10:7690582:T:G
Gene:: FCER2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.31854/8089 (ALFA)
C=0.052434/28 (MGP)
C=0.228183/3824 (TOMMO)
G=0.25/3 (Siberian)
C=0.274549/274 (GoNL)
C=0.275223/1233 (Estonian)
C=0.28371/829 (KOREAN)
C=0.293333/176 (NorthernSweden)
C=0.293876/70971 (GnomAD_exomes)
C=0.307213/35174 (ExAC)
C=0.342587/4455 (GoESP)
T=0.348921/97 (SGDP_PRJ)
C=0.351734/49119 (GnomAD)
C=0.355809/94179 (TOPMED)
C=0.388507/1946 (1000Genomes)
C=0.486111/105 (Qatari)
HGVS:: NC_000019.10:g.7690583T>A, NC_000019.10:g.7690583T>C, NC_000019.10:g.7690583T>G, NC_000019.9:g.7755469T>A, NC_000019.9:g.7755469T>C, NC_000019.9:g.7755469T>G, NG_029554.1:g.16564A>T, NG_029554.1:g.16564A>G, NG_029554.1:g.16564A>C

PubMed

Select item 228786616.

rs2287866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:7698817 (GRCh38)
19:7763703 (GRCh37)
Canonical SPDI:: NC_000019.10:7698816:A:C,NC_000019.10:7698816:A:G
Gene:: FCER2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.073084/6931 (ALFA)
G=0.029963/16 (MGP)
G=0.04509/45 (GoNL)
G=0.045577/169 (TWINSUK)
G=0.051375/198 (ALSPAC)
G=0.053333/32 (NorthernSweden)
G=0.062099/58 (PharmGKB)
G=0.069444/15 (Qatari)
G=0.082589/370 (Estonian)
G=0.1/26 (FINRISK)
G=0.1/4 (GENOME_DK)
G=0.102896/1336 (GoESP)
G=0.131874/12388 (ExAC)
G=0.135389/35836 (TOPMED)
G=0.173017/866 (1000Genomes)
G=0.18882/3160 (TOMMO)
G=0.196175/15439 (PAGE_STUDY)
G=0.245928/151 (Vietnamese)
G=0.246926/723 (KOREAN)
G=0.267467/490 (Korea1K)
A=0.401316/61 (SGDP_PRJ)
A=0.5/6 (Siberian)
HGVS:: NC_000019.10:g.7698817A>C, NC_000019.10:g.7698817A>G, NC_000019.9:g.7763703A>C, NC_000019.9:g.7763703A>G, NG_029554.1:g.8330T>G, NG_029554.1:g.8330T>C, NM_002002.5:c.60T>G, NM_002002.5:c.60T>C, NM_002002.4:c.60T>G, NM_002002.4:c.60T>C, NM_001207019.3:c.57T>G, NM_001207019.3:c.57T>C, NM_001207019.2:c.57T>G, NM_001207019.2:c.57T>C, NM_001220500.2:c.60T>G, NM_001220500.2:c.60T>C, NM_001220500.1:c.60T>G, NM_001220500.1:c.60T>C, XM_005272462.5:c.60T>G, XM_005272462.5:c.60T>C, XM_005272462.4:c.60T>G, XM_005272462.4:c.60T>C, XM_005272462.3:c.60T>G, XM_005272462.3:c.60T>C, XM_005272462.2:c.60T>G, XM_005272462.2:c.60T>C, XM_005272462.1:c.60T>G, XM_005272462.1:c.60T>C

Select item 228786717.

rs2287867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:7699855 (GRCh38)
19:7764741 (GRCh37)
Canonical SPDI:: NC_000019.10:7699854:G:A,NC_000019.10:7699854:G:C,NC_000019.10:7699854:G:T
Gene:: FCER2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.463955/37521 (ALFA)
G=0.240909/106 (SGDP_PRJ)
G=0.32/16 (Siberian)
G=0.321077/5381 (TOMMO)
G=0.338225/991 (KOREAN)
G=0.346616/635 (Korea1K)
G=0.4/16 (GENOME_DK)
G=0.401869/86 (Vietnamese)
G=0.417634/1871 (Estonian)
G=0.442898/923 (HGDP_Stanford)
G=0.446894/446 (GoNL)
G=0.457143/32 (PRJEB36033)
G=0.468333/281 (NorthernSweden)
G=0.468447/1737 (TWINSUK)
G=0.471398/445 (PharmGKB)
G=0.476129/1835 (ALSPAC)
A=0.481481/104 (Qatari)
G=0.481886/2413 (1000Genomes)
G=0.486243/919 (HapMap)
A=0.492497/130359 (TOPMED)
G=0.496255/265 (MGP)
A=0.497457/69628 (GnomAD)
HGVS:: NC_000019.10:g.7699855G>A, NC_000019.10:g.7699855G>C, NC_000019.10:g.7699855G>T, NC_000019.9:g.7764741G>A, NC_000019.9:g.7764741G>C, NC_000019.9:g.7764741G>T, NG_029554.1:g.7292C>T, NG_029554.1:g.7292C>G, NG_029554.1:g.7292C>A

PubMed

Select item 228786818.

rs2287868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:7699886 (GRCh38)
19:7764772 (GRCh37)
Canonical SPDI:: NC_000019.10:7699885:T:A,NC_000019.10:7699885:T:C
Gene:: FCER2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.480609/13483 (ALFA)
T=0.242358/111 (SGDP_PRJ)
T=0.32/16 (Siberian)
T=0.320051/5364 (TOMMO)
T=0.335154/982 (KOREAN)
T=0.344432/631 (Korea1K)
T=0.392523/84 (Vietnamese)
T=0.4/16 (GENOME_DK)
T=0.417187/1869 (Estonian)
T=0.446894/446 (GoNL)
T=0.450627/575 (HapMap)
T=0.455497/2281 (1000Genomes)
T=0.461538/24 (PharmGKB)
T=0.466667/280 (NorthernSweden)
T=0.467907/1735 (TWINSUK)
C=0.468165/250 (MGP)
T=0.476129/1835 (ALSPAC)
T=0.479565/67094 (GnomAD)
T=0.483226/127905 (TOPMED)
C=0.49537/107 (Qatari)
HGVS:: NC_000019.10:g.7699886T>A, NC_000019.10:g.7699886T>C, NC_000019.9:g.7764772T>A, NC_000019.9:g.7764772T>C, NG_029554.1:g.7261A>T, NG_029554.1:g.7261A>G

Select item 230311119.

rs2303111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:7701873 (GRCh38)
19:7766759 (GRCh37)
Canonical SPDI:: NC_000019.10:7701872:G:A,NC_000019.10:7701872:G:C,NC_000019.10:7701872:G:T
Gene:: FCER2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.4199/1217 (KOREAN)
G=0.5/10 (Siberian)
G=0.5/108 (SGDP_PRJ)
HGVS:: NC_000019.10:g.7701873G>A, NC_000019.10:g.7701873G>C, NC_000019.10:g.7701873G>T, NC_000019.9:g.7766759G>A, NC_000019.9:g.7766759G>C, NC_000019.9:g.7766759G>T, NG_029554.1:g.5274C>T, NG_029554.1:g.5274C>G, NG_029554.1:g.5274C>A

Select item 230311220.

rs2303112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 19:7701980 (GRCh38)
19:7766866 (GRCh37)
Canonical SPDI:: NC_000019.10:7701979:T:A,NC_000019.10:7701979:T:C,NC_000019.10:7701979:T:G
Gene:: FCER2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.360983/29984 (ALFA)
G=0.180556/39 (Qatari)
G=0.248677/470 (HapMap)
G=0.25/19 (PharmGKB)
G=0.277327/1389 (1000Genomes)
G=0.310522/82192 (TOPMED)
G=0.334453/697 (HGDP_Stanford)
G=0.347707/637 (Korea1K)
G=0.353836/5930 (TOMMO)
T=0.35906/107 (SGDP_PRJ)
G=0.37056/1085 (KOREAN)
G=0.375/225 (NorthernSweden)
G=0.383765/1423 (TWINSUK)
G=0.388947/1499 (ALSPAC)
G=0.397196/85 (Vietnamese)
T=0.411765/14 (Siberian)
G=0.433482/1942 (Estonian)
G=0.475/19 (GENOME_DK)
T=0.480769/50 (PRJEB36033)
HGVS:: NC_000019.10:g.7701980T>A, NC_000019.10:g.7701980T>C, NC_000019.10:g.7701980T>G, NC_000019.9:g.7766866T>A, NC_000019.9:g.7766866T>C, NC_000019.9:g.7766866T>G, NG_029554.1:g.5167A>T, NG_029554.1:g.5167A>G, NG_029554.1:g.5167A>C

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