SNP Links for Gene (Select 9527) - SNP

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Select item 14913888941.

rs1491388894 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:30486040 (GRCh38)
17:28813058 (GRCh37)
Canonical SPDI:: NC_000017.11:30486039:AG:
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.30486040_30486041del, NC_000017.10:g.28813058_28813059del

Select item 14913211392.

rs1491321139 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACACAC,TCACACAC [Show Flanks]
Chromosome:: 17:30494193 (GRCh38)
17:28821212 (GRCh37)
Canonical SPDI:: NC_000017.11:30494193:CACACAC:CACACACGCACACAC,NC_000017.11:30494193:CACACAC:CACACACTCACACAC
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACTCACACAC=0./0 (ALFA)
CACACACT=0.000026/7 (TOPMED)
CACACACG=0.000227/1 (GnomAD)
HGVS:: NC_000017.11:g.30494194_30494200CA[3]CGCACACAC[1], NC_000017.11:g.30494194_30494200CA[3]CTCACACAC[1], NC_000017.10:g.28821212_28821218CA[3]CGCACACAC[1], NC_000017.10:g.28821212_28821218CA[3]CTCACACAC[1]

Select item 14911732983.

rs1491173298 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:30486040 (GRCh38)
17:28813059 (GRCh37)
Canonical SPDI:: NC_000017.11:30486040:G:GG
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.30486041dup, NC_000017.10:g.28813059dup

Select item 14911484084.

rs1491148408 has merged into rs71360748 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:30521178 (GRCh38)
17:28848196 (GRCh37)
Canonical SPDI:: NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30521167:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TT=0.16394/821 (1000Genomes)
HGVS:: NC_000017.11:g.30521178_30521196del, NC_000017.11:g.30521179_30521196del, NC_000017.11:g.30521180_30521196del, NC_000017.11:g.30521181_30521196del, NC_000017.11:g.30521182_30521196del, NC_000017.11:g.30521183_30521196del, NC_000017.11:g.30521184_30521196del, NC_000017.11:g.30521185_30521196del, NC_000017.11:g.30521186_30521196del, NC_000017.11:g.30521187_30521196del, NC_000017.11:g.30521188_30521196del, NC_000017.11:g.30521189_30521196del, NC_000017.11:g.30521190_30521196del, NC_000017.11:g.30521191_30521196del, NC_000017.11:g.30521192_30521196del, NC_000017.11:g.30521193_30521196del, NC_000017.11:g.30521194_30521196del, NC_000017.11:g.30521195_30521196del, NC_000017.11:g.30521196del, NC_000017.11:g.30521196dup, NC_000017.11:g.30521195_30521196dup, NC_000017.11:g.30521194_30521196dup, NC_000017.11:g.30521193_30521196dup, NC_000017.11:g.30521192_30521196dup, NC_000017.11:g.30521191_30521196dup, NC_000017.11:g.30521190_30521196dup, NC_000017.11:g.30521189_30521196dup, NC_000017.11:g.30521188_30521196dup, NC_000017.11:g.30521187_30521196dup, NC_000017.10:g.28848196_28848214del, NC_000017.10:g.28848197_28848214del, NC_000017.10:g.28848198_28848214del, NC_000017.10:g.28848199_28848214del, NC_000017.10:g.28848200_28848214del, NC_000017.10:g.28848201_28848214del, NC_000017.10:g.28848202_28848214del, NC_000017.10:g.28848203_28848214del, NC_000017.10:g.28848204_28848214del, NC_000017.10:g.28848205_28848214del, NC_000017.10:g.28848206_28848214del, NC_000017.10:g.28848207_28848214del, NC_000017.10:g.28848208_28848214del, NC_000017.10:g.28848209_28848214del, NC_000017.10:g.28848210_28848214del, NC_000017.10:g.28848211_28848214del, NC_000017.10:g.28848212_28848214del, NC_000017.10:g.28848213_28848214del, NC_000017.10:g.28848214del, NC_000017.10:g.28848214dup, NC_000017.10:g.28848213_28848214dup, NC_000017.10:g.28848212_28848214dup, NC_000017.10:g.28848211_28848214dup, NC_000017.10:g.28848210_28848214dup, NC_000017.10:g.28848209_28848214dup, NC_000017.10:g.28848208_28848214dup, NC_000017.10:g.28848207_28848214dup, NC_000017.10:g.28848206_28848214dup, NC_000017.10:g.28848205_28848214dup

Select item 14910468785.

rs1491046878 has merged into rs562204816 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:30483140 (GRCh38)
17:28810158 (GRCh37)
Canonical SPDI:: NC_000017.11:30483127:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:30483127:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:30483127:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:30483127:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:30483127:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:30483127:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:30483127:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:30483127:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30483127:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:30483127:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00333/2 (NorthernSweden)
-=0.20008/1002 (1000Genomes)
HGVS:: NC_000017.11:g.30483140_30483144del, NC_000017.11:g.30483141_30483144del, NC_000017.11:g.30483142_30483144del, NC_000017.11:g.30483143_30483144del, NC_000017.11:g.30483144del, NC_000017.11:g.30483144dup, NC_000017.11:g.30483143_30483144dup, NC_000017.11:g.30483141_30483144dup, NC_000017.11:g.30483129_30483144dup, NC_000017.11:g.30483144_30483145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.28810158_28810162del, NC_000017.10:g.28810159_28810162del, NC_000017.10:g.28810160_28810162del, NC_000017.10:g.28810161_28810162del, NC_000017.10:g.28810162del, NC_000017.10:g.28810162dup, NC_000017.10:g.28810161_28810162dup, NC_000017.10:g.28810159_28810162dup, NC_000017.10:g.28810147_28810162dup, NC_000017.10:g.28810162_28810163insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910007966.

rs1491000796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:30481383 (GRCh38)
17:28808401 (GRCh37)
Canonical SPDI:: NC_000017.11:30481382:A:G
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30481383A>G, NC_000017.10:g.28808401A>G

Select item 14909346317.

rs1490934631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:30481511 (GRCh38)
17:28808529 (GRCh37)
Canonical SPDI:: NC_000017.11:30481510:T:A,NC_000017.11:30481510:T:C
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.30481511T>A, NC_000017.11:g.30481511T>C, NC_000017.10:g.28808529T>A, NC_000017.10:g.28808529T>C

Select item 14908300408.

rs1490830040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:30505268 (GRCh38)
17:28832286 (GRCh37)
Canonical SPDI:: NC_000017.11:30505267:C:T
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.30505268C>T, NC_000017.10:g.28832286C>T

Select item 14908048309.

rs1490804830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:30506347 (GRCh38)
17:28833365 (GRCh37)
Canonical SPDI:: NC_000017.11:30506346:C:T
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00034/4 (ALFA)
HGVS:: NC_000017.11:g.30506347C>T, NC_000017.10:g.28833365C>T

Select item 149064161910.

rs1490641619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:30506933 (GRCh38)
17:28833951 (GRCh37)
Canonical SPDI:: NC_000017.11:30506932:A:G
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.30506933A>G, NC_000017.10:g.28833951A>G

Select item 149052045611.

rs1490520456 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:30486961 (GRCh38)
17:28813979 (GRCh37)
Canonical SPDI:: NC_000017.11:30486960:A:G
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30486961A>G, NC_000017.10:g.28813979A>G

Select item 149042254712.

rs1490422547 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:30526229 (GRCh38)
17:28853247 (GRCh37)
Canonical SPDI:: NC_000017.11:30526228:A:T
Gene:: GOSR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30526229A>T, NC_000017.10:g.28853247A>T, XM_005258070.6:c.*3851A>T, XM_005258070.4:c.*3851A>T, XM_005258071.6:c.*3851A>T, XM_005258072.4:c.*3851A>T, XM_005258072.2:c.*3851A>T, XM_017025374.3:c.*3851A>T, XM_017025374.1:c.*3851A>T, NM_004871.3:c.*3851A>T, NM_004871.2:c.*3851A>T, XM_017025375.3:c.*3851A>T, XM_017025375.1:c.*3851A>T, XM_017025376.3:c.*3851A>T, XM_017025376.1:c.*3851A>T, NM_001007024.2:c.*3851A>T, NM_001007024.1:c.*3851A>T, NM_001007025.2:c.*3851A>T, NM_001007025.1:c.*3851A>T, XM_047437109.1:c.*3851A>T, XM_047437111.1:c.*3851A>T, XM_047437110.1:c.*3851A>T

Select item 149042012113.

rs1490420121 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:30489540 (GRCh38)
17:28816558 (GRCh37)
Canonical SPDI:: NC_000017.11:30489539:T:C
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.30489540T>C, NC_000017.10:g.28816558T>C

Select item 149030068114.

rs1490300681 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:30489662 (GRCh38)
17:28816680 (GRCh37)
Canonical SPDI:: NC_000017.11:30489661:T:C
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30489662T>C, NC_000017.10:g.28816680T>C

Select item 149024483715.

rs1490244837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:30521869 (GRCh38)
17:28848887 (GRCh37)
Canonical SPDI:: NC_000017.11:30521868:G:A
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.30521869G>A, NC_000017.10:g.28848887G>A

Select item 149023767616.

rs1490237676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:30505996 (GRCh38)
17:28833014 (GRCh37)
Canonical SPDI:: NC_000017.11:30505995:C:T
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30505996C>T, NC_000017.10:g.28833014C>T

Select item 149022290217.

rs1490222902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:30508986 (GRCh38)
17:28836004 (GRCh37)
Canonical SPDI:: NC_000017.11:30508985:T:A
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30508986T>A, NC_000017.10:g.28836004T>A

Select item 149018295418.

rs1490182954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:30528281 (GRCh38)
17:28855299 (GRCh37)
Canonical SPDI:: NC_000017.11:30528280:A:T
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.30528281A>T, NC_000017.10:g.28855299A>T

Select item 149016320519.

rs1490163205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:30490065 (GRCh38)
17:28817083 (GRCh37)
Canonical SPDI:: NC_000017.11:30490064:G:A
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000034/9 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.30490065G>A, NC_000017.10:g.28817083G>A

Select item 149015549820.

rs1490155498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:30514789 (GRCh38)
17:28841807 (GRCh37)
Canonical SPDI:: NC_000017.11:30514788:G:A
Gene:: GOSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.30514789G>A, NC_000017.10:g.28841807G>A

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