SNP Links for Gene (Select 10019) - SNP

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Select item 14915812601.

rs1491581260 [Homo sapiens]

Variant type:: SNV:
Alleles:: AG>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14909809482.

rs1490980948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:111428330 (GRCh38)
12:111866134 (GRCh37)
Canonical SPDI:: NC_000012.12:111428329:C:G
Gene:: SH2B3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000106/2 (TOMMO)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.111428330C>G, NC_000012.11:g.111866134C>G, NG_021216.1:g.27383C>G

Select item 14909559743.

rs1490955974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:111404599 (GRCh38)
12:111842403 (GRCh37)
Canonical SPDI:: NC_000012.12:111404598:T:A
Gene:: SH2B3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.111404599T>A, NC_000012.11:g.111842403T>A, NG_021216.1:g.3652T>A

Select item 14909448544.

rs1490944854 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGAGGC>- [Show Flanks]
Chromosome:: 12:111418445 (GRCh38)
12:111856249 (GRCh37)
Canonical SPDI:: NC_000012.12:111418440:AGGCCGAGGC:AGGC
Gene:: SH2B3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,inframe_deletion,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGGC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.111418445_111418450del, NC_000012.11:g.111856249_111856254del, NG_021216.1:g.17498_17503del, NM_005475.3:c.300_305del, NM_005475.2:c.300_305del, XM_005253818.5:c.300_305del, XM_005253818.4:c.300_305del, XM_005253818.3:c.300_305del, XM_005253818.2:c.300_305del, XM_005253818.1:c.300_305del, XM_005253819.5:c.300_305del, XM_005253819.4:c.300_305del, XM_005253819.3:c.300_305del, XM_005253819.2:c.300_305del, XM_005253819.1:c.300_305del, XM_011537720.4:c.300_305del, XM_011537720.3:c.300_305del, XM_011537720.2:c.300_305del, XM_011537720.1:c.300_305del, XM_011537719.3:c.300_305del, XM_011537719.2:c.300_305del, XM_011537719.1:c.300_305del, XM_047428025.1:c.300_305del, XM_047428026.1:c.300_305del, XM_047428027.1:c.300_305del, NP_005466.1:p.Glu101_Ala102del, XP_005253875.1:p.Glu101_Ala102del, XP_005253876.1:p.Glu101_Ala102del, XP_011536022.1:p.Glu101_Ala102del, XP_011536021.1:p.Glu101_Ala102del, XP_047283981.1:p.Glu101_Ala102del, XP_047283982.1:p.Glu101_Ala102del, XP_047283983.1:p.Glu101_Ala102del

Select item 14909298675.

rs1490929867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:111419157 (GRCh38)
12:111856961 (GRCh37)
Canonical SPDI:: NC_000012.12:111419156:G:T
Gene:: SH2B3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.111419157G>T, NC_000012.11:g.111856961G>T, NG_021216.1:g.18210G>T

Select item 14909250776.

rs1490925077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:111425857 (GRCh38)
12:111863661 (GRCh37)
Canonical SPDI:: NC_000012.12:111425856:G:A
Gene:: SH2B3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000012.12:g.111425857G>A, NC_000012.11:g.111863661G>A, NG_021216.1:g.24910G>A

Select item 14908779237.

rs1490877923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:111449222 (GRCh38)
12:111887026 (GRCh37)
Canonical SPDI:: NC_000012.12:111449221:A:G
Gene:: SH2B3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.111449222A>G, NC_000012.11:g.111887026A>G, NG_011572.3:g.155455T>C, NG_021216.1:g.48275A>G, NM_005475.3:c.*920A>G, NM_005475.2:c.*920A>G, NM_001291424.1:c.*920A>G, XM_005253818.5:c.*920A>G, XM_005253818.4:c.*920A>G, XM_005253818.3:c.*920A>G, XM_005253818.2:c.*920A>G, XM_005253818.1:c.*920A>G, XM_006719180.5:c.*920A>G, XM_006719180.4:c.*920A>G, XM_006719180.3:c.*920A>G, XM_006719180.2:c.*920A>G, XM_006719180.1:c.*920A>G, XM_005253819.5:c.*920A>G, XM_005253819.4:c.*920A>G, XM_005253819.3:c.*920A>G, XM_005253819.2:c.*920A>G, XM_005253819.1:c.*920A>G, XM_011537720.4:c.*920A>G, XM_011537720.3:c.*920A>G, XM_011537720.2:c.*920A>G, XM_011537720.1:c.*920A>G, XM_011537719.3:c.*920A>G, XM_011537719.2:c.*920A>G, XM_011537719.1:c.*920A>G, XM_047428025.1:c.*920A>G, XM_047428026.1:c.*920A>G, XM_047428028.1:c.*920A>G

Select item 14908505328.

rs1490850532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:111434184 (GRCh38)
12:111871988 (GRCh37)
Canonical SPDI:: NC_000012.12:111434183:A:C
Gene:: SH2B3 (Varview), LOC124903019 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_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_000012.12:g.111434184A>C, NC_000012.11:g.111871988A>C, NG_021216.1:g.33237A>C, XR_007063462.1:n.9699T>G

Select item 14907361759.

rs1490736175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:111445381 (GRCh38)
12:111883185 (GRCh37)
Canonical SPDI:: NC_000012.12:111445380:G:A
Gene:: SH2B3 (Varview), LOC124903019 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000071/10 (GnomAD)
A=0.000076/20 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.111445381G>A, NC_000012.11:g.111883185G>A, NG_011572.3:g.159296C>T, NG_021216.1:g.44434G>A, XM_006719180.5:c.-905G>A, XM_006719180.2:c.-905G>A, XM_006719180.1:c.-905G>A

Select item 149072735010.

rs1490727350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:111427071 (GRCh38)
12:111864875 (GRCh37)
Canonical SPDI:: NC_000012.12:111427070:G:T
Gene:: SH2B3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000012.12:g.111427071G>T, NC_000012.11:g.111864875G>T, NG_021216.1:g.26124G>T

Select item 149068559011.

rs1490685590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:111443197 (GRCh38)
12:111881001 (GRCh37)
Canonical SPDI:: NC_000012.12:111443196:G:A,NC_000012.12:111443196:G:C
Gene:: SH2B3 (Varview), LOC124903019 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.111443197G>A, NC_000012.12:g.111443197G>C, NC_000012.11:g.111881001G>A, NC_000012.11:g.111881001G>C, NG_011572.3:g.161480C>T, NG_011572.3:g.161480C>G, NG_021216.1:g.42250G>A, NG_021216.1:g.42250G>C, XR_007063462.1:n.1549C>T, XR_007063462.1:n.1549C>G

Select item 149066503112.

rs1490665031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:111410024 (GRCh38)
12:111847828 (GRCh37)
Canonical SPDI:: NC_000012.12:111410023:C:A
Gene:: SH2B3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.111410024C>A, NC_000012.11:g.111847828C>A, NG_021216.1:g.9077C>A

Select item 149055464713.

rs1490554647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:111426568 (GRCh38)
12:111864372 (GRCh37)
Canonical SPDI:: NC_000012.12:111426567:A:G
Gene:: SH2B3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.111426568A>G, NC_000012.11:g.111864372A>G, NG_021216.1:g.25621A>G

Select item 149041139114.

rs1490411391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:111403425 (GRCh38)
12:111841229 (GRCh37)
Canonical SPDI:: NC_000012.12:111403424:C:A,NC_000012.12:111403424:C:T
Gene:: SH2B3 (Varview), LINC02356 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.111403425C>A, NC_000012.12:g.111403425C>T, NC_000012.11:g.111841229C>A, NC_000012.11:g.111841229C>T, NG_021216.1:g.2478C>A, NG_021216.1:g.2478C>T

Select item 149035861315.

rs1490358613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:111446002 (GRCh38)
12:111883806 (GRCh37)
Canonical SPDI:: NC_000012.12:111446001:G:C
Gene:: SH2B3 (Varview), LOC124903019 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.111446002G>C, NC_000012.11:g.111883806G>C, NG_011572.3:g.158675C>G, NG_021216.1:g.45055G>C, XM_006719180.5:c.-284G>C, XM_006719180.4:c.-284G>C, XM_006719180.3:c.-284G>C, XM_006719180.2:c.-284G>C, XM_006719180.1:c.-284G>C

Select item 149020188116.

rs1490201881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:111407401 (GRCh38)
12:111845205 (GRCh37)
Canonical SPDI:: NC_000012.12:111407400:G:A,NC_000012.12:111407400:G:T
Gene:: SH2B3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00005/7 (GnomAD)
HGVS:: NC_000012.12:g.111407401G>A, NC_000012.12:g.111407401G>T, NC_000012.11:g.111845205G>A, NC_000012.11:g.111845205G>T, NG_021216.1:g.6454G>A, NG_021216.1:g.6454G>T

Select item 149019838317.

rs1490198383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:111441983 (GRCh38)
12:111879787 (GRCh37)
Canonical SPDI:: NC_000012.12:111441982:G:A
Gene:: SH2B3 (Varview), LOC124903019 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.111441983G>A, NC_000012.11:g.111879787G>A, NG_011572.3:g.162694C>T, NG_021216.1:g.41036G>A, XR_007063462.1:n.2763C>T

Select item 149013156918.

rs1490131569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:111418218 (GRCh38)
12:111856022 (GRCh37)
Canonical SPDI:: NC_000012.12:111418217:G:A
Gene:: SH2B3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.111418218G>A, NC_000012.11:g.111856022G>A, NG_021216.1:g.17271G>A, NM_005475.3:c.73G>A, NM_005475.2:c.73G>A, XM_005253818.5:c.73G>A, XM_005253818.4:c.73G>A, XM_005253818.3:c.73G>A, XM_005253818.2:c.73G>A, XM_005253818.1:c.73G>A, XM_005253819.5:c.73G>A, XM_005253819.4:c.73G>A, XM_005253819.3:c.73G>A, XM_005253819.2:c.73G>A, XM_005253819.1:c.73G>A, XM_011537720.4:c.73G>A, XM_011537720.3:c.73G>A, XM_011537720.2:c.73G>A, XM_011537720.1:c.73G>A, XM_011537719.3:c.73G>A, XM_011537719.2:c.73G>A, XM_011537719.1:c.73G>A, XM_047428025.1:c.73G>A, XM_047428026.1:c.73G>A, XM_047428027.1:c.73G>A, NP_005466.1:p.Gly25Ser, XP_005253875.1:p.Gly25Ser, XP_005253876.1:p.Gly25Ser, XP_011536022.1:p.Gly25Ser, XP_011536021.1:p.Gly25Ser, XP_047283981.1:p.Gly25Ser, XP_047283982.1:p.Gly25Ser, XP_047283983.1:p.Gly25Ser

Select item 149003293319.

rs1490032933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:111433677 (GRCh38)
12:111871481 (GRCh37)
Canonical SPDI:: NC_000012.12:111433676:C:T
Gene:: SH2B3 (Varview), LOC124903019 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.111433677C>T, NC_000012.11:g.111871481C>T, NG_021216.1:g.32730C>T, XR_007063462.1:n.10206G>A

Select item 149001694720.

rs1490016947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:111418520 (GRCh38)
12:111856324 (GRCh37)
Canonical SPDI:: NC_000012.12:111418519:C:T
Gene:: SH2B3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.111418520C>T, NC_000012.11:g.111856324C>T, NG_021216.1:g.17573C>T, NM_005475.3:c.375C>T, NM_005475.2:c.375C>T, XM_005253818.5:c.375C>T, XM_005253818.4:c.375C>T, XM_005253818.3:c.375C>T, XM_005253818.2:c.375C>T, XM_005253818.1:c.375C>T, XM_005253819.5:c.375C>T, XM_005253819.4:c.375C>T, XM_005253819.3:c.375C>T, XM_005253819.2:c.375C>T, XM_005253819.1:c.375C>T, XM_011537720.4:c.375C>T, XM_011537720.3:c.375C>T, XM_011537720.2:c.375C>T, XM_011537720.1:c.375C>T, XM_011537719.3:c.375C>T, XM_011537719.2:c.375C>T, XM_011537719.1:c.375C>T, XM_047428025.1:c.375C>T, XM_047428026.1:c.375C>T, XM_047428027.1:c.375C>T

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