Links from Gene
Items: 1 to 20 of 13415
1.
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
2.
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]
3.
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:
4.
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:
5.
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
6.
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:
7.
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
8.
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]
9.
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:
10.
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]
11.
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:
12.
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:
13.
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:
14.
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:
16.
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:
- 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
17.
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:
18.
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:
19.
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:
20.
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: