Links from Gene
Items: 1 to 20 of 3412
1.
rs1491505550 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 11:3629330
(GRCh38)
11:3650560
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3629329:CG:
- Gene:
- TRPC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00201/30
(TOMMO)
-=0.00685/4
(NorthernSweden)
-=0.01163/226
(GnomAD)
- HGVS:
3.
rs1491400400 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 11:3629383
(GRCh38)
11:3650614
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3629383:T:TGT
- Gene:
- TRPC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0./0
(
ALFA)
TG=0.000004/1
(TOPMED)
- HGVS:
7.
rs1491112136 has merged into rs1554960171 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:3629502
(GRCh38)
11:3650732
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:3629493:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- TRPC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.0018/3
(Korea1K)
- HGVS:
NC_000011.10:g.3629502_3629509del, NC_000011.10:g.3629505_3629509del, NC_000011.10:g.3629506_3629509del, NC_000011.10:g.3629507_3629509del, NC_000011.10:g.3629508_3629509del, NC_000011.10:g.3629509del, NC_000011.10:g.3629509dup, NC_000011.10:g.3629508_3629509dup, NC_000011.10:g.3629507_3629509dup, NC_000011.10:g.3629506_3629509dup, NC_000011.10:g.3629505_3629509dup, NC_000011.9:g.3650732_3650739del, NC_000011.9:g.3650735_3650739del, NC_000011.9:g.3650736_3650739del, NC_000011.9:g.3650737_3650739del, NC_000011.9:g.3650738_3650739del, NC_000011.9:g.3650739del, NC_000011.9:g.3650739dup, NC_000011.9:g.3650738_3650739dup, NC_000011.9:g.3650737_3650739dup, NC_000011.9:g.3650736_3650739dup, NC_000011.9:g.3650735_3650739dup
8.
rs1490903213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:3626121
(GRCh38)
11:3647351
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3626120:A:C
- Gene:
- TRPC2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
9.
rs1490776964 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATACATACGTATACATACATA>-
[Show Flanks]
- Chromosome:
- 11:3629322
(GRCh38)
11:3650552
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3629314:ATACATATATACATACGTATACATACATA:ATACATA
- Gene:
- TRPC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATACATA=0./0
(
ALFA)
-=0.00009/2
(GnomAD)
- HGVS:
10.
rs1490508641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:3630411
(GRCh38)
11:3651641
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3630410:G:A
- Gene:
- TRPC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490287050 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:3629584
(GRCh38)
11:3650814
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3629583:G:A
- Gene:
- TRPC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000169/2
(
ALFA)
A=0.000058/8
(GnomAD)
- HGVS:
12.
rs1490164626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:3632221
(GRCh38)
11:3653451
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3632220:C:G
- Gene:
- TRPC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490017309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:3630713
(GRCh38)
11:3651943
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3630712:C:T
- Gene:
- TRPC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489798197 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTT>-
[Show Flanks]
- Chromosome:
- 11:3630383
(GRCh38)
11:3651613
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3630380:TTCTTT:TT
- Gene:
- TRPC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000022/3
(GnomAD)
-=0.000074/2
(TOMMO)
- HGVS:
16.
rs1489691243 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:3632204
(GRCh38)
11:3653434
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3632203:T:C
- Gene:
- TRPC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489664011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 11:3637040
(GRCh38)
11:3658270
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3637039:C:A,NC_000011.10:3637039:C:G
- Gene:
- TRPC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1489660277 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:3627369
(GRCh38)
11:3648599
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3627368:G:A
- Gene:
- TRPC2 (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:
19.
rs1489589776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:3624983
(GRCh38)
11:3646213
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3624982:C:T
- Gene:
- TRPC2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
T=0.000212/4
(TOMMO)
T=0.00308/9
(KOREAN)
- HGVS:
20.
rs1489528090 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:3626992
(GRCh38)
11:3648222
(GRCh37)
- Canonical SPDI:
- NC_000011.10:3626991:A:G
- Gene:
- TRPC2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00003/8
(TOPMED)
- HGVS: