Links from Gene
Items: 1 to 20 of 1000
1.
rs1491458665 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 11:46689313
(GRCh38)
11:46710863
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46689312:AT:
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
2.
rs1491264769 has merged into rs973115024 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 11:46690236
(GRCh38)
11:46711786
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46690226:AAAAAAAAAAA:AAAAAAAAA,NC_000011.10:46690226:AAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:46690226:AAAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
4.
rs1491130717 has merged into rs34418008 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:46685686
(GRCh38)
11:46707236
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46685676:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.14597/731
(1000Genomes)
- HGVS:
NC_000011.10:g.46685686_46685696del, NC_000011.10:g.46685687_46685696del, NC_000011.10:g.46685688_46685696del, NC_000011.10:g.46685689_46685696del, NC_000011.10:g.46685690_46685696del, NC_000011.10:g.46685693_46685696del, NC_000011.10:g.46685694_46685696del, NC_000011.10:g.46685695_46685696del, NC_000011.10:g.46685696del, NC_000011.10:g.46685696dup, NC_000011.10:g.46685695_46685696dup, NC_000011.10:g.46685694_46685696dup, NC_000011.10:g.46685693_46685696dup, NC_000011.10:g.46685692_46685696dup, NC_000011.9:g.46707236_46707246del, NC_000011.9:g.46707237_46707246del, NC_000011.9:g.46707238_46707246del, NC_000011.9:g.46707239_46707246del, NC_000011.9:g.46707240_46707246del, NC_000011.9:g.46707243_46707246del, NC_000011.9:g.46707244_46707246del, NC_000011.9:g.46707245_46707246del, NC_000011.9:g.46707246del, NC_000011.9:g.46707246dup, NC_000011.9:g.46707245_46707246dup, NC_000011.9:g.46707244_46707246dup, NC_000011.9:g.46707243_46707246dup, NC_000011.9:g.46707242_46707246dup
5.
rs1491098183 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:46689313
(GRCh38)
11:46710864
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46689313:T:TT
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00006/1
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS:
6.
rs1491088864 has merged into rs66603634 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:46683047
(GRCh38)
11:46704597
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:46683037:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0.2161/1082
(1000Genomes)
- HGVS:
NC_000011.10:g.46683047_46683058del, NC_000011.10:g.46683048_46683058del, NC_000011.10:g.46683050_46683058del, NC_000011.10:g.46683051_46683058del, NC_000011.10:g.46683053_46683058del, NC_000011.10:g.46683055_46683058del, NC_000011.10:g.46683056_46683058del, NC_000011.10:g.46683057_46683058del, NC_000011.10:g.46683058del, NC_000011.10:g.46683058dup, NC_000011.10:g.46683057_46683058dup, NC_000011.10:g.46683056_46683058dup, NC_000011.10:g.46683055_46683058dup, NC_000011.10:g.46683054_46683058dup, NC_000011.10:g.46683053_46683058dup, NC_000011.10:g.46683052_46683058dup, NC_000011.10:g.46683051_46683058dup, NC_000011.10:g.46683058_46683059insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.46704597_46704608del, NC_000011.9:g.46704598_46704608del, NC_000011.9:g.46704600_46704608del, NC_000011.9:g.46704601_46704608del, NC_000011.9:g.46704603_46704608del, NC_000011.9:g.46704605_46704608del, NC_000011.9:g.46704606_46704608del, NC_000011.9:g.46704607_46704608del, NC_000011.9:g.46704608del, NC_000011.9:g.46704608dup, NC_000011.9:g.46704607_46704608dup, NC_000011.9:g.46704606_46704608dup, NC_000011.9:g.46704605_46704608dup, NC_000011.9:g.46704604_46704608dup, NC_000011.9:g.46704603_46704608dup, NC_000011.9:g.46704602_46704608dup, NC_000011.9:g.46704601_46704608dup, NC_000011.9:g.46704608_46704609insTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491039883 has merged into rs57399402 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:46698620
(GRCh38)
11:46720170
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46698607:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:46698607:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:46698607:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:46698607:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:46698607:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:46698607:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0./0
(ALSPAC)
A=0./0
(TWINSUK)
A=0.01173/196
(TOMMO)
A=0.06609/331
(1000Genomes)
- HGVS:
NC_000011.10:g.46698620_46698623del, NC_000011.10:g.46698621_46698623del, NC_000011.10:g.46698622_46698623del, NC_000011.10:g.46698623del, NC_000011.10:g.46698623dup, NC_000011.10:g.46698617_46698623dup, NC_000011.9:g.46720170_46720173del, NC_000011.9:g.46720171_46720173del, NC_000011.9:g.46720172_46720173del, NC_000011.9:g.46720173del, NC_000011.9:g.46720173dup, NC_000011.9:g.46720167_46720173dup, NG_052967.1:g.2854_2857del, NG_052967.1:g.2855_2857del, NG_052967.1:g.2856_2857del, NG_052967.1:g.2857del, NG_052967.1:g.2857dup, NG_052967.1:g.2851_2857dup
8.
rs1490849078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:46694207
(GRCh38)
11:46715757
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46694206:C:T
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490790791 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:46677158
(GRCh38)
11:46698708
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46677157:T:C
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490718372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:46692875
(GRCh38)
11:46714425
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46692874:C:T
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000023/3
(GnomAD)
T=0.000142/2
(TOMMO)
- HGVS:
11.
rs1490661719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:46684895
(GRCh38)
11:46706445
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46684894:C:T
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
12.
rs1490556977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:46691866
(GRCh38)
11:46713416
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46691865:G:A
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490408061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:46692873
(GRCh38)
11:46714423
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46692872:G:A
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000015/2
(GnomAD)
- HGVS:
14.
rs1490317006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:46686736
(GRCh38)
11:46708286
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46686735:T:C
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490236123 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 11:46693668
(GRCh38)
11:46715218
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46693667:T:
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490159632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:46695941
(GRCh38)
11:46717491
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46695940:G:A,NC_000011.10:46695940:G:T
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
17.
rs1490083977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:46693683
(GRCh38)
11:46715233
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46693682:G:T
- Gene:
- ARHGAP1 (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)
T=0.000035/1
(TOMMO)
- HGVS:
18.
rs1489811210 has merged into rs1031578568 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGACTTGTGGCGCCCAGCCACAAG>-,AGACTTGTGGCGCCCAGCCACAAGAGACTTGTGGCGCCCAGCCACAAG
[Show Flanks]
- Chromosome:
- 11:46686291
(GRCh38)
11:46707841
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46686281:AGCCACAAGAGACTTGTGGCGCCCAGCCACAAG:AGCCACAAG,NC_000011.10:46686281:AGCCACAAGAGACTTGTGGCGCCCAGCCACAAG:AGCCACAAGAGACTTGTGGCGCCCAGCCACAAGAGACTTGTGGCGCCCAGCCACAAG
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGCCACAAG=0.00005/1
(
ALFA)
-=0.00006/1
(TOMMO)
-=0.00022/1
(Estonian)
- HGVS:
19.
rs1489797905 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:46701650
(GRCh38)
11:46723200
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46701649:G:A
- Gene:
- ARHGAP1 (Varview), ZNF408 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
20.
rs1489424955 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 11:46685698
(GRCh38)
11:46707248
(GRCh37)
- Canonical SPDI:
- NC_000011.10:46685697:A:G,NC_000011.10:46685697:A:T
- Gene:
- ARHGAP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
T=0.00099/28
(TOMMO)
- HGVS: