Links from Gene
Items: 1 to 20 of 1000
3.
rs1491300401 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- X:108041553
(GRCh38)
X:107284783
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108041552:CG:
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000016/1
(GnomAD)
- HGVS:
4.
rs1491300144 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AT,TT
[Show Flanks]
- Chromosome:
- X:108041553
(GRCh38)
X:107284784
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108041553::AT,NC_000023.11:108041553::TT
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
AT=0.00002/2
(GnomAD)
- HGVS:
5.
rs1491152535 has merged into rs1203449181 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATAAAAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- X:108071902
(GRCh38)
X:107315132
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAA,NC_000023.11:108071892:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATAAAAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000193/51
(TOPMED)
- HGVS:
NC_000023.11:g.108071902_108071910del, NC_000023.11:g.108071904_108071910del, NC_000023.11:g.108071906_108071910del, NC_000023.11:g.108071907_108071910del, NC_000023.11:g.108071908_108071910del, NC_000023.11:g.108071909_108071910del, NC_000023.11:g.108071910del, NC_000023.11:g.108071910dup, NC_000023.11:g.108071909_108071910dup, NC_000023.11:g.108071908_108071910dup, NC_000023.11:g.108071907_108071910dup, NC_000023.11:g.108071906_108071910dup, NC_000023.11:g.108071905_108071910dup, NC_000023.11:g.108071904_108071910dup, NC_000023.11:g.108071903_108071910dup, NC_000023.11:g.108071902_108071910dup, NC_000023.11:g.108071901_108071910dup, NC_000023.11:g.108071900_108071910dup, NC_000023.11:g.108071899_108071910dup, NC_000023.11:g.108071898_108071910dup, NC_000023.11:g.108071897_108071910dup, NC_000023.11:g.108071896_108071910dup, NC_000023.11:g.108071895_108071910dup, NC_000023.11:g.108071894_108071910dup, NC_000023.11:g.108071893_108071910dup, NC_000023.11:g.108071910_108071911insAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.108071910_108071911insAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.108071910_108071911insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.108071910_108071911insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.108071893_108071910A[31]TAAAAAAAAAAAAAAAAAAAA[1], NC_000023.11:g.108071893_108071910A[30]GAAAAAAAAAAAAAAAAAAA[1], NC_000023.11:g.108071893_108071910A[30]TAAAAAAAAAAAAAAAAAAAA[1], NC_000023.11:g.108071893_108071910A[23]TAAAAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.107315132_107315140del, NC_000023.10:g.107315134_107315140del, NC_000023.10:g.107315136_107315140del, NC_000023.10:g.107315137_107315140del, NC_000023.10:g.107315138_107315140del, NC_000023.10:g.107315139_107315140del, NC_000023.10:g.107315140del, NC_000023.10:g.107315140dup, NC_000023.10:g.107315139_107315140dup, NC_000023.10:g.107315138_107315140dup, NC_000023.10:g.107315137_107315140dup, NC_000023.10:g.107315136_107315140dup, NC_000023.10:g.107315135_107315140dup, NC_000023.10:g.107315134_107315140dup, NC_000023.10:g.107315133_107315140dup, NC_000023.10:g.107315132_107315140dup, NC_000023.10:g.107315131_107315140dup, NC_000023.10:g.107315130_107315140dup, NC_000023.10:g.107315129_107315140dup, NC_000023.10:g.107315128_107315140dup, NC_000023.10:g.107315127_107315140dup, NC_000023.10:g.107315126_107315140dup, NC_000023.10:g.107315125_107315140dup, NC_000023.10:g.107315124_107315140dup, NC_000023.10:g.107315123_107315140dup, NC_000023.10:g.107315140_107315141insAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.107315140_107315141insAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.107315140_107315141insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.107315140_107315141insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.107315123_107315140A[31]TAAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.107315123_107315140A[30]GAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.107315123_107315140A[30]TAAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.107315123_107315140A[23]TAAAAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_016264.1:g.31933_31941del, NG_016264.1:g.31935_31941del, NG_016264.1:g.31937_31941del, NG_016264.1:g.31938_31941del, NG_016264.1:g.31939_31941del, NG_016264.1:g.31940_31941del, NG_016264.1:g.31941del, NG_016264.1:g.31941dup, NG_016264.1:g.31940_31941dup, NG_016264.1:g.31939_31941dup, NG_016264.1:g.31938_31941dup, NG_016264.1:g.31937_31941dup, NG_016264.1:g.31936_31941dup, NG_016264.1:g.31935_31941dup, NG_016264.1:g.31934_31941dup, NG_016264.1:g.31933_31941dup, NG_016264.1:g.31932_31941dup, NG_016264.1:g.31931_31941dup, NG_016264.1:g.31930_31941dup, NG_016264.1:g.31929_31941dup, NG_016264.1:g.31928_31941dup, NG_016264.1:g.31927_31941dup, NG_016264.1:g.31926_31941dup, NG_016264.1:g.31925_31941dup, NG_016264.1:g.31924_31941dup, NG_016264.1:g.31941_31942insAAAAAAAAAAAAAAAAAAA, NG_016264.1:g.31941_31942insAAAAAAAAAAAAAAAAAAAAA, NG_016264.1:g.31941_31942insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016264.1:g.31941_31942insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016264.1:g.31924_31941A[31]TAAAAAAAAAAAAAAAAAAAA[1], NG_016264.1:g.31924_31941A[30]GAAAAAAAAAAAAAAAAAAA[1], NG_016264.1:g.31924_31941A[30]TAAAAAAAAAAAAAAAAAAAA[1], NG_016264.1:g.31924_31941A[23]TAAAAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
6.
rs1491014154 has merged into rs1411866217 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-,GCGC
[Show Flanks]
- Chromosome:
- X:108058952
(GRCh38)
X:107302182
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108058949:GCGC:GC,NC_000023.11:108058949:GCGC:GCGCGC
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCGC=0.00129/21
(
ALFA)
-=0.00023/3
(TOMMO)
- HGVS:
7.
rs1490925667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:108033077
(GRCh38)
X:107276307
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108033076:C:T
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
8.
rs1490877242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:108052995
(GRCh38)
X:107296225
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108052994:G:C
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490876257 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- X:108036506
(GRCh38)
X:107279737
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108036506:T:TT
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000038/4
(GnomAD)
- HGVS:
10.
rs1490531899 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:108066821
(GRCh38)
X:107310051
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108066820:T:G
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
11.
rs1490461181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:108065115
(GRCh38)
X:107308345
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108065114:G:A
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
12.
rs1490417288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:108034203
(GRCh38)
X:107277433
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108034202:G:A
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490381022 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-
[Show Flanks]
- Chromosome:
- X:108035740
(GRCh38)
X:107278970
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108035738:TTTT:T
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.00001/1
(GnomAD)
- HGVS:
14.
rs1490316655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:108077869
(GRCh38)
X:107321099
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108077868:G:A
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000039/4
(GnomAD)
A=0.000208/1
(1000Genomes)
- HGVS:
NC_000023.11:g.108077869G>A, NC_000023.10:g.107321099G>A, NG_016264.1:g.37900G>A, NM_182607.5:c.*488G>A, NM_182607.4:c.*488G>A, NM_001170553.2:c.*488G>A, NM_001170553.1:c.*488G>A, XM_005262127.5:c.*488G>A, XM_011530936.3:c.*488G>A, XM_047442072.1:c.*488G>A, XM_047442073.1:c.*488G>A
16.
rs1490280804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:108077031
(GRCh38)
X:107320261
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108077030:G:A
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000006/1
(GnomAD_exomes)
A=0.000015/4
(TOPMED)
- HGVS:
17.
rs1490218041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:108022532
(GRCh38)
X:107265762
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108022531:T:G
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
18.
rs1490109375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:108031397
(GRCh38)
X:107274627
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108031396:A:G
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/2
(GnomAD)
G=0.00006/16
(TOPMED)
G=0.000208/1
(1000Genomes)
- HGVS:
20.
rs1490057058 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:108035029
(GRCh38)
X:107278259
(GRCh37)
- Canonical SPDI:
- NC_000023.11:108035028:C:T
- Gene:
- VSIG1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000038/4
(GnomAD)
T=0.000042/11
(TOPMED)
- HGVS: