SNP Links for Gene (Select 6452) - SNP

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Select item 14915748471.

rs1491574847 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:2839315 (GRCh38)
4:2841043 (GRCh37)
Canonical SPDI:: NC_000004.12:2839315:A:AA
Gene:: SH3BP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.2839316dup, NC_000004.11:g.2841043dup, NG_012037.1:g.460dup, NG_011609.1:g.51294dup, NM_003023.4:c.*5482dup, NM_001145856.2:c.*5482dup, NM_001145856.1:c.*5482dup, NM_001145855.2:c.*5482dup, NM_001145855.1:c.*5482dup, NM_001122681.2:c.*5482dup, NM_001122681.1:c.*5482dup

Select item 14915609252.

rs1491560925 has merged into rs138848543 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT [Show Flanks]
Chromosome:: 4:2802542 (GRCh38)
4:2804269 (GRCh37)
Canonical SPDI:: NC_000004.12:2802532:TGTGTGTGTGTGT:TGTGTGTGT,NC_000004.12:2802532:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000004.12:2802532:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000004.12:2802532:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0.0004/3 (ALFA)
TG=0.0539/270 (1000Genomes)
TG=0.35/14 (GENOME_DK)
HGVS:: NC_000004.12:g.2802534GT[4], NC_000004.12:g.2802534GT[5], NC_000004.12:g.2802534GT[7], NC_000004.12:g.2802534GT[8], NC_000004.11:g.2804261GT[4], NC_000004.11:g.2804261GT[5], NC_000004.11:g.2804261GT[7], NC_000004.11:g.2804261GT[8], NG_011609.1:g.14512GT[4], NG_011609.1:g.14512GT[5], NG_011609.1:g.14512GT[7], NG_011609.1:g.14512GT[8]

Select item 14914171243.

rs1491417124 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:2827057 (GRCh38)
4:2828784 (GRCh37)
Canonical SPDI:: NC_000004.12:2827056:AT:
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2827057_2827058del, NC_000004.11:g.2828784_2828785del, NG_011609.1:g.39035_39036del

Select item 14913361144.

rs1491336114 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:2802485 (GRCh38)
4:2804213 (GRCh37)
Canonical SPDI:: NC_000004.12:2802485::A
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000004.12:g.2802485_2802486insA, NC_000004.11:g.2804212_2804213insA, NG_011609.1:g.14463_14464insA

Select item 14913232305.

rs1491323230 has merged into rs34241051 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 4:2800558 (GRCh38)
4:2802285 (GRCh37)
Canonical SPDI:: NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCCCCCC
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.4167/2087 (1000Genomes)
HGVS:: NC_000004.12:g.2800558_2800559del, NC_000004.12:g.2800559del, NC_000004.12:g.2800559dup, NC_000004.12:g.2800558_2800559dup, NC_000004.12:g.2800557_2800559dup, NC_000004.11:g.2802285_2802286del, NC_000004.11:g.2802286del, NC_000004.11:g.2802286dup, NC_000004.11:g.2802285_2802286dup, NC_000004.11:g.2802284_2802286dup, NG_011609.1:g.12536_12537del, NG_011609.1:g.12537del, NG_011609.1:g.12537dup, NG_011609.1:g.12536_12537dup, NG_011609.1:g.12535_12537dup

Select item 14911775386.

rs1491177538 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:2802488 (GRCh38)
4:2804215 (GRCh37)
Canonical SPDI:: NC_000004.12:2802484:TGTGT:TGT
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
-=0.00008/11 (GnomAD)
HGVS:: NC_000004.12:g.2802486GT[1], NC_000004.11:g.2804213GT[1], NG_011609.1:g.14464GT[1]

Select item 14911506227.

rs1491150622 has merged into rs34241051 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 4:2800558 (GRCh38)
4:2802285 (GRCh37)
Canonical SPDI:: NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCCCCC,NC_000004.12:2800549:CCCCCCCCCC:CCCCCCCCCCCCC
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.4167/2087 (1000Genomes)
HGVS:: NC_000004.12:g.2800558_2800559del, NC_000004.12:g.2800559del, NC_000004.12:g.2800559dup, NC_000004.12:g.2800558_2800559dup, NC_000004.12:g.2800557_2800559dup, NC_000004.11:g.2802285_2802286del, NC_000004.11:g.2802286del, NC_000004.11:g.2802286dup, NC_000004.11:g.2802285_2802286dup, NC_000004.11:g.2802284_2802286dup, NG_011609.1:g.12536_12537del, NG_011609.1:g.12537del, NG_011609.1:g.12537dup, NG_011609.1:g.12536_12537dup, NG_011609.1:g.12535_12537dup

Select item 14910854468.

rs1491085446 has merged into rs150785584 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATGTGTATATATGTATATATGTGTATATGTATATATATAT [Show Flanks]
Chromosome:: 4:2802588 (GRCh38)
4:2804315 (GRCh37)
Canonical SPDI:: NC_000004.12:2802580:TATATATAT:TATATAT,NC_000004.12:2802580:TATATATAT:TATATATATAT,NC_000004.12:2802580:TATATATAT:TATATATATATAT,NC_000004.12:2802580:TATATATAT:TATATATATATATAT,NC_000004.12:2802580:TATATATAT:TATATATATATGTGTATATATGTATATATGTGTATATGTATATATATAT
Gene:: SH3BP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
TA=0.0301/55 (Korea1K)
TA=0.0667/14 (Vietnamese)
TA=0.125/5 (GENOME_DK)
TA=0.15/90 (NorthernSweden)
TA=0.2114/211 (GoNL)
HGVS:: NC_000004.12:g.2802582AT[3], NC_000004.12:g.2802582AT[5], NC_000004.12:g.2802582AT[6], NC_000004.12:g.2802582AT[7], NC_000004.12:g.2802581_2802589TA[5]TG[2]TATATATG[2]TGTATA[2]TA[3]T[1], NC_000004.11:g.2804309AT[3], NC_000004.11:g.2804309AT[5], NC_000004.11:g.2804309AT[6], NC_000004.11:g.2804309AT[7], NC_000004.11:g.2804308_2804316TA[5]TG[2]TATATATG[2]TGTATA[2]TA[3]T[1], NG_011609.1:g.14560AT[3], NG_011609.1:g.14560AT[5], NG_011609.1:g.14560AT[6], NG_011609.1:g.14560AT[7], NG_011609.1:g.14559_14567TA[5]TG[2]TATATATG[2]TGTATA[2]TA[3]T[1]

Select item 14910739129.

rs1491073912 has merged into rs35988257 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 4:2802552 (GRCh38)
4:2804279 (GRCh37)
Canonical SPDI:: NC_000004.12:2802544:TATATATAT:TATATAT,NC_000004.12:2802544:TATATATAT:TATATATATAT,NC_000004.12:2802544:TATATATAT:TATATATATATAT
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
TA=0.0248/5 (Vietnamese)
TA=0.0917/55 (NorthernSweden)
TA=0.1276/639 (1000Genomes)
HGVS:: NC_000004.12:g.2802546AT[3], NC_000004.12:g.2802546AT[5], NC_000004.12:g.2802546AT[6], NC_000004.11:g.2804273AT[3], NC_000004.11:g.2804273AT[5], NC_000004.11:g.2804273AT[6], NG_011609.1:g.14524AT[3], NG_011609.1:g.14524AT[5], NG_011609.1:g.14524AT[6]

Select item 149102143010.

rs1491021430 has merged into rs141519244 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG,TGTGTGTG,TGTGTGTGTG [Show Flanks]
Chromosome:: 4:2826401 (GRCh38)
4:2828128 (GRCh37)
Canonical SPDI:: NC_000004.12:2826394:TGTGTGTGTG:TGTGTG,NC_000004.12:2826394:TGTGTGTGTG:TGTGTGTG,NC_000004.12:2826394:TGTGTGTGTG:TGTGTGTGTGTG,NC_000004.12:2826394:TGTGTGTGTG:TGTGTGTGTGTGTG,NC_000004.12:2826394:TGTGTGTGTG:TGTGTGTGTGTGTGTG
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTG=0./0 (ALFA)
TG=0.00018/3 (TOMMO)
HGVS:: NC_000004.12:g.2826395TG[3], NC_000004.12:g.2826395TG[4], NC_000004.12:g.2826395TG[6], NC_000004.12:g.2826395TG[7], NC_000004.12:g.2826395TG[8], NC_000004.11:g.2828122TG[3], NC_000004.11:g.2828122TG[4], NC_000004.11:g.2828122TG[6], NC_000004.11:g.2828122TG[7], NC_000004.11:g.2828122TG[8], NG_011609.1:g.38373TG[3], NG_011609.1:g.38373TG[4], NG_011609.1:g.38373TG[6], NG_011609.1:g.38373TG[7], NG_011609.1:g.38373TG[8]

Select item 149096187311.

rs1490961873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:2793119 (GRCh38)
4:2794846 (GRCh37)
Canonical SPDI:: NC_000004.12:2793118:G:A
Gene:: SH3BP2 (Varview)
Functional Consequence:: genic_upstream_transcript_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_000004.12:g.2793119G>A, NC_000004.11:g.2794846G>A, NG_011609.1:g.5097G>A, NM_001122681.2:c.-24G>A, NM_001122681.1:c.-24G>A

Select item 149093725512.

rs1490937255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:2792366 (GRCh38)
4:2794093 (GRCh37)
Canonical SPDI:: NC_000004.12:2792365:C:A
Gene:: SH3BP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.001416/24 (TOMMO)
HGVS:: NC_000004.12:g.2792366C>A, NC_000004.11:g.2794093C>A, NG_011609.1:g.4344C>A

Select item 149090975513.

rs1490909755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:2830257 (GRCh38)
4:2831984 (GRCh37)
Canonical SPDI:: NC_000004.12:2830256:G:A,NC_000004.12:2830256:G:T
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.2830257G>A, NC_000004.12:g.2830257G>T, NC_000004.11:g.2831984G>A, NC_000004.11:g.2831984G>T, NG_011609.1:g.42235G>A, NG_011609.1:g.42235G>T

Select item 149088614514.

rs1490886145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2818625 (GRCh38)
4:2820352 (GRCh37)
Canonical SPDI:: NC_000004.12:2818624:C:T
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.2818625C>T, NC_000004.11:g.2820352C>T, NG_011609.1:g.30603C>T

Select item 149086860215.

rs1490868602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:2806896 (GRCh38)
4:2808623 (GRCh37)
Canonical SPDI:: NC_000004.12:2806895:A:C
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.2806896A>C, NC_000004.11:g.2808623A>C, NG_011609.1:g.18874A>C

Select item 149085626216.

rs1490856262 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:2834241 (GRCh38)
4:2835968 (GRCh37)
Canonical SPDI:: NC_000004.12:2834240:A:C,NC_000004.12:2834240:A:G
Gene:: SH3BP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.2834241A>C, NC_000004.12:g.2834241A>G, NC_000004.11:g.2835968A>C, NC_000004.11:g.2835968A>G, NG_011609.1:g.46219A>C, NG_011609.1:g.46219A>G, NM_003023.4:c.*407A>C, NM_003023.4:c.*407A>G, NM_001145856.2:c.*407A>C, NM_001145856.2:c.*407A>G, NM_001145856.1:c.*407A>C, NM_001145856.1:c.*407A>G, NM_001145855.2:c.*407A>C, NM_001145855.2:c.*407A>G, NM_001145855.1:c.*407A>C, NM_001145855.1:c.*407A>G, NM_001122681.2:c.*407A>C, NM_001122681.2:c.*407A>G, NM_001122681.1:c.*407A>C, NM_001122681.1:c.*407A>G

Select item 149081858417.

rs1490818584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:2821099 (GRCh38)
4:2822826 (GRCh37)
Canonical SPDI:: NC_000004.12:2821098:C:G,NC_000004.12:2821098:C:T
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000248/4 (TOMMO)
HGVS:: NC_000004.12:g.2821099C>G, NC_000004.12:g.2821099C>T, NC_000004.11:g.2822826C>G, NC_000004.11:g.2822826C>T, NG_011609.1:g.33077C>G, NG_011609.1:g.33077C>T

Select item 149079329818.

rs1490793298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2823182 (GRCh38)
4:2824909 (GRCh37)
Canonical SPDI:: NC_000004.12:2823181:C:T
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000177/3 (TOMMO)
T=0.001028/3 (KOREAN)
HGVS:: NC_000004.12:g.2823182C>T, NC_000004.11:g.2824909C>T, NG_011609.1:g.35160C>T

Select item 149073171919.

rs1490731719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:2799007 (GRCh38)
4:2800734 (GRCh37)
Canonical SPDI:: NC_000004.12:2799006:G:A,NC_000004.12:2799006:G:C
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_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_000004.12:g.2799007G>A, NC_000004.12:g.2799007G>C, NC_000004.11:g.2800734G>A, NC_000004.11:g.2800734G>C, NG_011609.1:g.10985G>A, NG_011609.1:g.10985G>C

Select item 149068356220.

rs1490683562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:2810648 (GRCh38)
4:2812375 (GRCh37)
Canonical SPDI:: NC_000004.12:2810647:C:G,NC_000004.12:2810647:C:T
Gene:: SH3BP2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.00046/8 (TOMMO)
G=0.001092/2 (Korea1K)
G=0.001711/5 (KOREAN)
HGVS:: NC_000004.12:g.2810648C>G, NC_000004.12:g.2810648C>T, NC_000004.11:g.2812375C>G, NC_000004.11:g.2812375C>T, NG_011609.1:g.22626C>G, NG_011609.1:g.22626C>T

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