SNP Links for Gene (Select 10045) - SNP

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Select item 14915371491.

rs1491537149 has merged into rs55670461 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:6764884 (GRCh38)
19:6764895 (GRCh37)
Canonical SPDI:: NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:6764872:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SH2D3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.6764884_6764895del, NC_000019.10:g.6764885_6764895del, NC_000019.10:g.6764886_6764895del, NC_000019.10:g.6764887_6764895del, NC_000019.10:g.6764888_6764895del, NC_000019.10:g.6764889_6764895del, NC_000019.10:g.6764890_6764895del, NC_000019.10:g.6764891_6764895del, NC_000019.10:g.6764892_6764895del, NC_000019.10:g.6764893_6764895del, NC_000019.10:g.6764894_6764895del, NC_000019.10:g.6764895del, NC_000019.10:g.6764895dup, NC_000019.10:g.6764894_6764895dup, NC_000019.10:g.6764893_6764895dup, NC_000019.10:g.6764892_6764895dup, NC_000019.10:g.6764891_6764895dup, NC_000019.10:g.6764890_6764895dup, NC_000019.10:g.6764889_6764895dup, NC_000019.10:g.6764888_6764895dup, NC_000019.10:g.6764885_6764895dup, NC_000019.10:g.6764882_6764895dup, NC_000019.9:g.6764895_6764906del, NC_000019.9:g.6764896_6764906del, NC_000019.9:g.6764897_6764906del, NC_000019.9:g.6764898_6764906del, NC_000019.9:g.6764899_6764906del, NC_000019.9:g.6764900_6764906del, NC_000019.9:g.6764901_6764906del, NC_000019.9:g.6764902_6764906del, NC_000019.9:g.6764903_6764906del, NC_000019.9:g.6764904_6764906del, NC_000019.9:g.6764905_6764906del, NC_000019.9:g.6764906del, NC_000019.9:g.6764906dup, NC_000019.9:g.6764905_6764906dup, NC_000019.9:g.6764904_6764906dup, NC_000019.9:g.6764903_6764906dup, NC_000019.9:g.6764902_6764906dup, NC_000019.9:g.6764901_6764906dup, NC_000019.9:g.6764900_6764906dup, NC_000019.9:g.6764899_6764906dup, NC_000019.9:g.6764896_6764906dup, NC_000019.9:g.6764893_6764906dup

Select item 14911882202.

rs1491188220 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 19:6764873 (GRCh38)
19:6764885 (GRCh37)
Canonical SPDI:: NC_000019.10:6764873:TT:TTATT
Gene:: SH2D3A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTATT=0./0 (ALFA)
TTA=0.00003/2 (GnomAD)
HGVS:: NC_000019.10:g.6764875_6764876insATT, NC_000019.9:g.6764886_6764887insATT

Select item 14909569133.

rs1490956913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:6769054 (GRCh38)
19:6769065 (GRCh37)
Canonical SPDI:: NC_000019.10:6769053:A:C,NC_000019.10:6769053:A:G
Gene:: SH2D3A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.6769054A>C, NC_000019.10:g.6769054A>G, NC_000019.9:g.6769065A>C, NC_000019.9:g.6769065A>G

Select item 14905974394.

rs1490597439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:6767048 (GRCh38)
19:6767059 (GRCh37)
Canonical SPDI:: NC_000019.10:6767047:G:A,NC_000019.10:6767047:G:C
Gene:: SH2D3A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.6767048G>A, NC_000019.10:g.6767048G>C, NC_000019.9:g.6767059G>A, NC_000019.9:g.6767059G>C

Select item 14905831545.

rs1490583154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:6768172 (GRCh38)
19:6768183 (GRCh37)
Canonical SPDI:: NC_000019.10:6768171:C:A,NC_000019.10:6768171:C:G
Gene:: SH2D3A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.6768172C>A, NC_000019.10:g.6768172C>G, NC_000019.9:g.6768183C>A, NC_000019.9:g.6768183C>G

Select item 14902915836.

rs1490291583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6754621 (GRCh38)
19:6754632 (GRCh37)
Canonical SPDI:: NC_000019.10:6754620:C:T
Gene:: SH2D3A (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.6754621C>T, NC_000019.9:g.6754632C>T, XM_011527608.3:c.807G>A, XM_011527608.2:c.807G>A, XM_011527608.1:c.807G>A, NM_005490.3:c.1092G>A, NM_005490.2:c.1092G>A, XM_011527609.3:c.807G>A, XM_011527609.2:c.807G>A, XM_011527609.1:c.807G>A, XM_005259472.3:c.726G>A, XM_005259472.2:c.726G>A, XM_005259472.1:c.726G>A, XM_005259467.2:c.1092G>A, XM_005259467.1:c.1092G>A, XM_006722602.2:c.709G>A, XM_006722602.1:c.709G>A, XM_017026123.2:c.1092G>A, XM_017026123.1:c.1092G>A, NM_001386584.1:c.1089G>A, NM_001386585.1:c.1089G>A, XM_047438014.1:c.807G>A, NM_001386586.1:c.709G>A, NM_001386588.1:c.726G>A, NM_001386587.1:c.709G>A, NM_001386583.1:c.607G>A, XM_047438016.1:c.424G>A, XM_047438015.1:c.343G>A, NM_001386589.1:c.247G>A, XP_006722665.1:p.Gly237Arg, NP_001373515.1:p.Gly237Arg, NP_001373516.1:p.Gly237Arg, NP_001373512.1:p.Gly203Arg, XP_047293972.1:p.Gly142Arg, XP_047293971.1:p.Gly115Arg, NP_001373518.1:p.Gly83Arg

Select item 14899299687.

rs1489929968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6755322 (GRCh38)
19:6755333 (GRCh37)
Canonical SPDI:: NC_000019.10:6755321:G:A
Gene:: SH2D3A (Varview)
Functional Consequence:: 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_000019.10:g.6755322G>A, NC_000019.9:g.6755333G>A

Select item 14898888328.

rs1489888832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:6761240 (GRCh38)
19:6761251 (GRCh37)
Canonical SPDI:: NC_000019.10:6761239:T:C,NC_000019.10:6761239:T:G
Gene:: SH2D3A (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000038/10 (TOPMED)
G=0.009825/18 (Korea1K)
HGVS:: NC_000019.10:g.6761240T>C, NC_000019.10:g.6761240T>G, NC_000019.9:g.6761251T>C, NC_000019.9:g.6761251T>G, XM_011527608.3:c.-367A>G, XM_011527608.3:c.-367A>C, XM_011527608.2:c.-367A>G, XM_011527608.2:c.-367A>C, XM_011527608.1:c.-367A>G, XM_011527608.1:c.-367A>C

Select item 14898229969.

rs1489822996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6756848 (GRCh38)
19:6756859 (GRCh37)
Canonical SPDI:: NC_000019.10:6756847:C:T
Gene:: SH2D3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.6756848C>T, NC_000019.9:g.6756859C>T

Select item 148972481310.

rs1489724813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6768630 (GRCh38)
19:6768641 (GRCh37)
Canonical SPDI:: NC_000019.10:6768629:C:T
Gene:: SH2D3A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.6768630C>T, NC_000019.9:g.6768641C>T

Select item 148957968311.

rs1489579683 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:6760614 (GRCh38)
19:6760625 (GRCh37)
Canonical SPDI:: NC_000019.10:6760613:A:T
Gene:: SH2D3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.6760614A>T, NC_000019.9:g.6760625A>T

Select item 148953917412.

rs1489539174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:6765113 (GRCh38)
19:6765124 (GRCh37)
Canonical SPDI:: NC_000019.10:6765112:T:G
Gene:: SH2D3A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000019.10:g.6765113T>G, NC_000019.9:g.6765124T>G

Select item 148947173413.

rs1489471734 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:6765562 (GRCh38)
19:6765573 (GRCh37)
Canonical SPDI:: NC_000019.10:6765561:A:G
Gene:: SH2D3A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.6765562A>G, NC_000019.9:g.6765573A>G

Select item 148946175714.

rs1489461757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:6757081 (GRCh38)
19:6757092 (GRCh37)
Canonical SPDI:: NC_000019.10:6757080:G:T
Gene:: SH2D3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.6757081G>T, NC_000019.9:g.6757092G>T

Select item 148923104215.

rs1489231042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6764067 (GRCh38)
19:6764078 (GRCh37)
Canonical SPDI:: NC_000019.10:6764066:C:T
Gene:: SH2D3A (Varview)
Functional Consequence:: intron_variant,genic_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)
HGVS:: NC_000019.10:g.6764067C>T, NC_000019.9:g.6764078C>T

Select item 148856424316.

rs1488564243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:6764770 (GRCh38)
19:6764781 (GRCh37)
Canonical SPDI:: NC_000019.10:6764769:A:G
Gene:: SH2D3A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000019.10:g.6764770A>G, NC_000019.9:g.6764781A>G

Select item 148802394217.

rs1488023942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:6760482 (GRCh38)
19:6760493 (GRCh37)
Canonical SPDI:: NC_000019.10:6760481:T:C
Gene:: SH2D3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.6760482T>C, NC_000019.9:g.6760493T>C

Select item 148799797918.

rs1487997979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6767889 (GRCh38)
19:6767900 (GRCh37)
Canonical SPDI:: NC_000019.10:6767888:C:T
Gene:: SH2D3A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.6767889C>T, NC_000019.9:g.6767900C>T

Select item 148787350619.

rs1487873506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:6766715 (GRCh38)
19:6766726 (GRCh37)
Canonical SPDI:: NC_000019.10:6766714:G:A,NC_000019.10:6766714:G:T
Gene:: SH2D3A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.6766715G>A, NC_000019.10:g.6766715G>T, NC_000019.9:g.6766726G>A, NC_000019.9:g.6766726G>T

Select item 148777662220.

rs1487776622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6758658 (GRCh38)
19:6758669 (GRCh37)
Canonical SPDI:: NC_000019.10:6758657:G:A
Gene:: SH2D3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.6758658G>A, NC_000019.9:g.6758669G>A

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