SNP Links for Gene (Select 100422858) - SNP

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Select item 14905608001.

rs1490560800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102293184 (GRCh38)
7:101936450 (GRCh37)
Canonical SPDI:: NC_000007.14:102293183:G:A
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.102293184G>A, NW_003571037.1:g.217514G>A, NG_033220.1:g.13071G>A, NC_000007.13:g.101936450G>A, NR_036245.2:n.82G>A, NR_036245.1:n.82G>A

Select item 14888311732.

rs1488831173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102292343 (GRCh38)
7:101935616 (GRCh37)
Canonical SPDI:: NC_000007.14:102292342:C:T
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,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_000007.14:g.102292343C>T, NW_003571037.1:g.216673C>T, NG_033220.1:g.12230C>T, NC_000007.13:g.101935616C>T

Select item 14870739793.

rs1487073979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102293507 (GRCh38)
7:101936772 (GRCh37)
Canonical SPDI:: NC_000007.14:102293506:A:G
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,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_000007.14:g.102293507A>G, NW_003571037.1:g.217837A>G, NG_033220.1:g.13394A>G, NC_000007.13:g.101936772A>G

Select item 14855675304.

rs1485567530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:102293114 (GRCh38)
7:101936380 (GRCh37)
Canonical SPDI:: NC_000007.14:102293113:C:A,NC_000007.14:102293113:C:T
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.102293114C>A, NC_000007.14:g.102293114C>T, NW_003571037.1:g.217444C>A, NW_003571037.1:g.217444C>T, NG_033220.1:g.13001C>A, NG_033220.1:g.13001C>T, NC_000007.13:g.101936380C>A, NC_000007.13:g.101936380C>T, NR_036245.2:n.12C>A, NR_036245.2:n.12C>T, NR_036245.1:n.12C>A, NR_036245.1:n.12C>T

Select item 14842780965.

rs1484278096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:102293222 (GRCh38)
7:101936487 (GRCh37)
Canonical SPDI:: NC_000007.14:102293221:G:T
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0016/19 (ALFA)
T=0.07099/206 (KOREAN)
HGVS:: NC_000007.14:g.102293222G>T, NW_003571037.1:g.217552G>T, NG_033220.1:g.13109G>T, NC_000007.13:g.101936487G>T

Select item 14840927246.

rs1484092724 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:102293016 (GRCh38)
7:101936283 (GRCh37)
Canonical SPDI:: NC_000007.14:102293016::A
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000007.14:g.102293016_102293017insA, NW_003571037.1:g.217346_217347insA, NG_033220.1:g.12903_12904insA, NC_000007.13:g.101936282_101936283insA

Select item 14831460847.

rs1483146084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:102291938 (GRCh38)
7:101935211 (GRCh37)
Canonical SPDI:: NC_000007.14:102291937:C:T
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102291938C>T, NW_003571037.1:g.216268C>T, NG_033220.1:g.11825C>T, NC_000007.13:g.101935211C>T

Select item 14808744448.

rs1480874444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:102292975 (GRCh38)
7:101936241 (GRCh37)
Canonical SPDI:: NC_000007.14:102292974:G:A,NC_000007.14:102292974:G:C
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_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_000007.14:g.102292975G>A, NC_000007.14:g.102292975G>C, NW_003571037.1:g.217305G>A, NW_003571037.1:g.217305G>C, NG_033220.1:g.12862G>A, NG_033220.1:g.12862G>C, NC_000007.13:g.101936241G>A, NC_000007.13:g.101936241G>C

Select item 14808231149.

rs1480823114 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAC>- [Show Flanks]
Chromosome:: 7:102293637 (GRCh38)
7:101936902 (GRCh37)
Canonical SPDI:: NC_000007.14:102293635:CAAC:C
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.102293637_102293639del, NW_003571037.1:g.217967_217969del, NG_033220.1:g.13524_13526del, NC_000007.13:g.101936902_101936904del

Select item 148078672610.

rs1480786726 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:102293221 (GRCh38)
7:-1 (GRCh37)
Canonical SPDI:: NC_000007.14:102293220:T:A,NC_000007.14:102293220:T:C,NC_000007.14:102293220:T:G
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00003/2 (GnomAD)
HGVS:: NC_000007.14:g.102293221T>A, NC_000007.14:g.102293221T>C, NC_000007.14:g.102293221T>G, NW_003571037.1:g.217551T>A, NW_003571037.1:g.217551T>C, NW_003571037.1:g.217551T>G, NG_033220.1:g.13108T>A, NG_033220.1:g.13108T>C, NG_033220.1:g.13108T>G

Select item 147987339011.

rs1479873390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:102293617 (GRCh38)
7:101936882 (GRCh37)
Canonical SPDI:: NC_000007.14:102293616:G:T
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
T=0.000045/12 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000007.14:g.102293617G>T, NW_003571037.1:g.217947G>T, NG_033220.1:g.13504G>T, NC_000007.13:g.101936882G>T

Select item 147614641512.

rs1476146415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:102293491 (GRCh38)
7:101936756 (GRCh37)
Canonical SPDI:: NC_000007.14:102293490:C:G
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000022/3 (GnomAD)
G=0.000121/32 (TOPMED)
HGVS:: NC_000007.14:g.102293491C>G, NW_003571037.1:g.217821C>G, NG_033220.1:g.13378C>G, NC_000007.13:g.101936756C>G

Select item 147417631913.

rs1474176319 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102292871 (GRCh38)
7:101936137 (GRCh37)
Canonical SPDI:: NC_000007.14:102292870:G:A
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.102292871G>A, NW_003571037.1:g.217201G>A, NG_033220.1:g.12758G>A, NC_000007.13:g.101936137G>A

Select item 147273332614.

rs1472733326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:102292068 (GRCh38)
7:101935341 (GRCh37)
Canonical SPDI:: NC_000007.14:102292067:A:G
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.102292068A>G, NW_003571037.1:g.216398A>G, NG_033220.1:g.11955A>G, NC_000007.13:g.101935341A>G

Select item 147255347515.

rs1472553475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:102291715 (GRCh38)
7:101934988 (GRCh37)
Canonical SPDI:: NC_000007.14:102291714:G:A
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_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_000007.14:g.102291715G>A, NW_003571037.1:g.216045G>A, NG_033220.1:g.11602G>A, NC_000007.13:g.101934988G>A

Select item 147174543816.

rs1471745438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:102291564 (GRCh38)
7:101934837 (GRCh37)
Canonical SPDI:: NC_000007.14:102291563:C:G
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000007.14:g.102291564C>G, NW_003571037.1:g.215894C>G, NG_033220.1:g.11451C>G, NC_000007.13:g.101934837C>G

Select item 147037581217.

rs1470375812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:102293278 (GRCh38)
7:101936543 (GRCh37)
Canonical SPDI:: NC_000007.14:102293277:A:C
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00169/20 (ALFA)
C=0.03196/93 (KOREAN)
HGVS:: NC_000007.14:g.102293278A>C, NW_003571037.1:g.217608A>C, NG_033220.1:g.13165A>C, NC_000007.13:g.101936543A>C

Select item 146897839518.

rs1468978395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:102293386 (GRCh38)
7:101936651 (GRCh37)
Canonical SPDI:: NC_000007.14:102293385:A:C
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.012663/37 (KOREAN)
HGVS:: NC_000007.14:g.102293386A>C, NW_003571037.1:g.217716A>C, NG_033220.1:g.13273A>C, NC_000007.13:g.101936651A>C

Select item 146873893119.

rs1468738931 [Homo sapiens]

Variant type:: DEL
Alleles:: TTCAAAGTGC>- [Show Flanks]
Chromosome:: 7:102292650 (GRCh38)
7:101935923 (GRCh37)
Canonical SPDI:: NC_000007.14:102292649:TTCAAAGTGC:
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.08102/961 (ALFA)
HGVS:: NC_000007.14:g.102292650_102292659del, NW_003571037.1:g.216980_216989del, NG_033220.1:g.12537_12546del, NC_000007.13:g.101935923_101935924delinsTTCAAAG, NC_000007.13:g.101935924_101935928del

Select item 146793586620.

rs1467935866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:102291997 (GRCh38)
7:101935270 (GRCh37)
Canonical SPDI:: NC_000007.14:102291996:G:A,NC_000007.14:102291996:G:C
Gene:: SH2B2 (Varview), MIR4285 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.102291997G>A, NC_000007.14:g.102291997G>C, NW_003571037.1:g.216327G>A, NW_003571037.1:g.216327G>C, NG_033220.1:g.11884G>A, NG_033220.1:g.11884G>C, NC_000007.13:g.101935270G>A, NC_000007.13:g.101935270G>C

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