SNP Links for Gene (Select 400745) - SNP

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Items: 1 to 20 of 3799

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Select item 14914886791.

rs1491488679 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 1:20730306 (GRCh38)
1:21056799 (GRCh37)
Canonical SPDI:: NC_000001.11:20730305:CG:
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00063/12 (GnomAD)
HGVS:: NC_000001.11:g.20730306_20730307del, NC_000001.10:g.21056799_21056800del

Select item 14912149552.

rs1491214955 has merged into rs58462623 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGG>-,G,GG,GGG,GGGG,GGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGGGGGGGCCCTGTCCCCCAGCGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 1:20730314 (GRCh38)
1:21056807 (GRCh37)
Canonical SPDI:: NC_000001.11:20730306:GGGGGGGGGGGGG:GGGGGGG,NC_000001.11:20730306:GGGGGGGGGGGGG:GGGGGGGG,NC_000001.11:20730306:GGGGGGGGGGGGG:GGGGGGGGG,NC_000001.11:20730306:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000001.11:20730306:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000001.11:20730306:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:20730306:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000001.11:20730306:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000001.11:20730306:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000001.11:20730306:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGCCCTGTCCCCCAGCGGGGGGGGGGGGGGGGGGGG
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGGGG=0./0 (ALFA)
GGGGGG=0.128/641 (1000Genomes)
HGVS:: NC_000001.11:g.20730314_20730319del, NC_000001.11:g.20730315_20730319del, NC_000001.11:g.20730316_20730319del, NC_000001.11:g.20730317_20730319del, NC_000001.11:g.20730318_20730319del, NC_000001.11:g.20730319del, NC_000001.11:g.20730319dup, NC_000001.11:g.20730318_20730319dup, NC_000001.11:g.20730317_20730319dup, NC_000001.11:g.20730307_20730319G[22]CCCTGTCCCCCAGCGGGGGGGGGGGGGGGGGGGG[1], NC_000001.10:g.21056807_21056812del, NC_000001.10:g.21056808_21056812del, NC_000001.10:g.21056809_21056812del, NC_000001.10:g.21056810_21056812del, NC_000001.10:g.21056811_21056812del, NC_000001.10:g.21056812del, NC_000001.10:g.21056812dup, NC_000001.10:g.21056811_21056812dup, NC_000001.10:g.21056810_21056812dup, NC_000001.10:g.21056800_21056812G[22]CCCTGTCCCCCAGCGGGGGGGGGGGGGGGGGGGG[1]

Select item 14910472213.

rs1491047221 has merged into rs10638606 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:20734642 (GRCh38)
1:21061135 (GRCh37)
Canonical SPDI:: NC_000001.11:20734631:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:20734631:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:20734631:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:20734631:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:20734631:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:20734631:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:20734631:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:20734631:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:20734631:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: SH2D5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.13738/688 (1000Genomes)
HGVS:: NC_000001.11:g.20734642_20734648del, NC_000001.11:g.20734646_20734648del, NC_000001.11:g.20734647_20734648del, NC_000001.11:g.20734648del, NC_000001.11:g.20734648dup, NC_000001.11:g.20734647_20734648dup, NC_000001.11:g.20734646_20734648dup, NC_000001.11:g.20734645_20734648dup, NC_000001.11:g.20734644_20734648dup, NC_000001.10:g.21061135_21061141del, NC_000001.10:g.21061139_21061141del, NC_000001.10:g.21061140_21061141del, NC_000001.10:g.21061141del, NC_000001.10:g.21061141dup, NC_000001.10:g.21061140_21061141dup, NC_000001.10:g.21061139_21061141dup, NC_000001.10:g.21061138_21061141dup, NC_000001.10:g.21061137_21061141dup

Select item 14910161544.

rs1491016154 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:20730319 (GRCh38)
1:21056812 (GRCh37)
Canonical SPDI:: NC_000001.11:20730318:GA:
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.20730319_20730320del, NC_000001.10:g.21056812_21056813del

Select item 14909859355.

rs1490985935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:20721758 (GRCh38)
1:21048251 (GRCh37)
Canonical SPDI:: NC_000001.11:20721757:T:A
Gene:: SH2D5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00006/16 (TOPMED)
HGVS:: NC_000001.11:g.20721758T>A, NC_000001.10:g.21048251T>A, XM_011541461.3:c.*34A>T, XM_011541461.2:c.*34A>T, XM_011541461.1:c.*34A>T, XM_011541462.2:c.*34A>T, XM_011541462.1:c.*34A>T, XM_011541460.2:c.*34A>T, XM_011541460.1:c.*34A>T, NM_001103161.2:c.*34A>T, NM_001103161.1:c.*34A>T, NM_001103160.2:c.*34A>T, NM_001103160.1:c.*34A>T

Select item 14908773546.

rs1490877354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:20731664 (GRCh38)
1:21058157 (GRCh37)
Canonical SPDI:: NC_000001.11:20731663:C:G,NC_000001.11:20731663:C:T
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.20731664C>G, NC_000001.11:g.20731664C>T, NC_000001.10:g.21058157C>G, NC_000001.10:g.21058157C>T, XM_011541462.2:c.-961G>C, XM_011541462.2:c.-961G>A, XM_011541462.1:c.-961G>C, XM_011541462.1:c.-961G>A, XM_011541460.2:c.-801G>C, XM_011541460.2:c.-801G>A, XM_011541460.1:c.-801G>C, XM_011541460.1:c.-801G>A

Select item 14908517627.

rs1490851762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:20729304 (GRCh38)
1:21055797 (GRCh37)
Canonical SPDI:: NC_000001.11:20729303:T:C
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.20729304T>C, NC_000001.10:g.21055797T>C

Select item 14903866718.

rs1490386671 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:20729474 (GRCh38)
1:21055967 (GRCh37)
Canonical SPDI:: NC_000001.11:20729472:AGA:A
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.20729474_20729475del, NC_000001.10:g.21055967_21055968del

Select item 14903860249.

rs1490386024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20730512 (GRCh38)
1:21057005 (GRCh37)
Canonical SPDI:: NC_000001.11:20730511:C:T
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.20730512C>T, NC_000001.10:g.21057005C>T

Select item 149016307710.

rs1490163077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:20723245 (GRCh38)
1:21049738 (GRCh37)
Canonical SPDI:: NC_000001.11:20723244:G:C,NC_000001.11:20723244:G:T
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.20723245G>C, NC_000001.11:g.20723245G>T, NC_000001.10:g.21049738G>C, NC_000001.10:g.21049738G>T

Select item 148999939011.

rs1489999390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20723609 (GRCh38)
1:21050102 (GRCh37)
Canonical SPDI:: NC_000001.11:20723608:G:A
Gene:: SH2D5 (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_000001.11:g.20723609G>A, NC_000001.10:g.21050102G>A

Select item 148987501712.

rs1489875017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:20727193 (GRCh38)
1:21053686 (GRCh37)
Canonical SPDI:: NC_000001.11:20727192:G:T
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.20727193G>T, NC_000001.10:g.21053686G>T

Select item 148974691913.

rs1489746919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:20724421 (GRCh38)
1:21050914 (GRCh37)
Canonical SPDI:: NC_000001.11:20724420:G:A,NC_000001.11:20724420:G:T
Gene:: SH2D5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.20724421G>A, NC_000001.11:g.20724421G>T, NC_000001.10:g.21050914G>A, NC_000001.10:g.21050914G>T, XM_011541461.3:c.605C>T, XM_011541461.3:c.605C>A, XM_011541461.2:c.605C>T, XM_011541461.2:c.605C>A, XM_011541461.1:c.605C>T, XM_011541461.1:c.605C>A, XM_011541462.2:c.605C>T, XM_011541462.2:c.605C>A, XM_011541462.1:c.605C>T, XM_011541462.1:c.605C>A, XM_011541460.2:c.605C>T, XM_011541460.2:c.605C>A, XM_011541460.1:c.605C>T, XM_011541460.1:c.605C>A, NM_001103161.2:c.605C>T, NM_001103161.2:c.605C>A, NM_001103161.1:c.605C>T, NM_001103161.1:c.605C>A, NM_001103160.2:c.353C>T, NM_001103160.2:c.353C>A, NM_001103160.1:c.353C>T, NM_001103160.1:c.353C>A, XP_011539763.1:p.Pro202Leu, XP_011539763.1:p.Pro202Gln, XP_011539764.1:p.Pro202Leu, XP_011539764.1:p.Pro202Gln, XP_011539762.1:p.Pro202Leu, XP_011539762.1:p.Pro202Gln, NP_001096631.1:p.Pro202Leu, NP_001096631.1:p.Pro202Gln, NP_001096630.1:p.Pro118Leu, NP_001096630.1:p.Pro118Gln

Select item 148942246414.

rs1489422464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20724657 (GRCh38)
1:21051150 (GRCh37)
Canonical SPDI:: NC_000001.11:20724656:G:A
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.20724657G>A, NC_000001.10:g.21051150G>A

Select item 148933125515.

rs1489331255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20731708 (GRCh38)
1:21058201 (GRCh37)
Canonical SPDI:: NC_000001.11:20731707:G:A
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_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_000001.11:g.20731708G>A, NC_000001.10:g.21058201G>A, XM_011541462.2:c.-1005C>T, XM_011541460.2:c.-845C>T

Select item 148910623716.

rs1489106237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:20731230 (GRCh38)
1:21057723 (GRCh37)
Canonical SPDI:: NC_000001.11:20731229:G:C
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.20731230G>C, NC_000001.10:g.21057723G>C, XM_011541462.2:c.-527C>G, XM_011541462.1:c.-527C>G, XM_011541460.2:c.-367C>G, XM_011541460.1:c.-367C>G

Select item 148897069317.

rs1488970693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20726246 (GRCh38)
1:21052739 (GRCh37)
Canonical SPDI:: NC_000001.11:20726245:G:A
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.20726246G>A, NC_000001.10:g.21052739G>A

Select item 148889391018.

rs1488893910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:20724409 (GRCh38)
1:21050902 (GRCh37)
Canonical SPDI:: NC_000001.11:20724408:A:G
Gene:: SH2D5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20724409A>G, NC_000001.10:g.21050902A>G, XM_011541461.3:c.617T>C, XM_011541461.2:c.617T>C, XM_011541461.1:c.617T>C, XM_011541462.2:c.617T>C, XM_011541462.1:c.617T>C, XM_011541460.2:c.617T>C, XM_011541460.1:c.617T>C, NM_001103161.2:c.617T>C, NM_001103161.1:c.617T>C, NM_001103160.2:c.365T>C, NM_001103160.1:c.365T>C, XP_011539763.1:p.Leu206Pro, XP_011539764.1:p.Leu206Pro, XP_011539762.1:p.Leu206Pro, NP_001096631.1:p.Leu206Pro, NP_001096630.1:p.Leu122Pro

Select item 148842875619.

rs1488428756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20724980 (GRCh38)
1:21051473 (GRCh37)
Canonical SPDI:: NC_000001.11:20724979:G:A
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.20724980G>A, NC_000001.10:g.21051473G>A

Select item 148822730320.

rs1488227303 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:20729958 (GRCh38)
1:21056451 (GRCh37)
Canonical SPDI:: NC_000001.11:20729957:T:C
Gene:: SH2D5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.20729958T>C, NC_000001.10:g.21056451T>C

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