Links from Gene
Items: 1 to 20 of 1392
1.
rs1490660271 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATATATATGT,ATATATGT,ATATGT,GT,TT
[Show Flanks]
- Chromosome:
- X:17557347
(GRCh38)
X:17575469
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557347:T:TATATATATGT,NC_000023.11:17557347:T:TATATATGT,NC_000023.11:17557347:T:TATATGT,NC_000023.11:17557347:T:TGT,NC_000023.11:17557347:T:TTT
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000023.11:g.17557348TA[4]TGT[1], NC_000023.11:g.17557348TA[3]TGT[1], NC_000023.11:g.17557348TA[2]TGT[1], NC_000023.11:g.17557348_17557349insGT, NC_000023.11:g.17557348_17557349insTT, NC_000023.10:g.17575469TA[4]TGT[1], NC_000023.10:g.17575469TA[3]TGT[1], NC_000023.10:g.17575469TA[2]TGT[1], NC_000023.10:g.17575469_17575470insGT, NC_000023.10:g.17575469_17575470insTT, NG_011553.2:g.186929TA[4]TGT[1], NG_011553.2:g.186929TA[3]TGT[1], NG_011553.2:g.186929TA[2]TGT[1], NG_011553.2:g.186929_186930insGT, NG_011553.2:g.186929_186930insTT, NR_046632.1:n.57_58insCATATATATA, NR_046632.1:n.57_58insCATATATA, NR_046632.1:n.57_58insCATATA, NR_046632.1:n.57_58insCA, NR_046632.1:n.57_58insAA
2.
rs1490054257 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:17559493
(GRCh38)
X:17577614
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17559492:C:G
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_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:
3.
rs1489342039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:17560199
(GRCh38)
X:17578320
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17560198:C:T
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1488922794 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:17560356
(GRCh38)
X:17578477
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17560355:G:T
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_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)
T=0.00001/1
(GnomAD)
- HGVS:
5.
rs1488381859 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- X:17557380
(GRCh38)
X:17575501
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557379:A:C,NC_000023.11:17557379:A:G
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
C=0.000019/5
(TOPMED)
G=0.000045/1
(TOMMO)
- HGVS:
6.
rs1487087495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:17557309
(GRCh38)
X:17575430
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557308:A:G
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000011/1
(GnomAD)
- HGVS:
7.
rs1485977621 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:17554443
(GRCh38)
X:17572564
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17554442:A:T
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1485521740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:17553055
(GRCh38)
X:17571176
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17553054:G:A
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1484937728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:17553559
(GRCh38)
X:17571680
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17553558:T:C
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1484316367 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:17557912
(GRCh38)
X:17576033
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557911:A:G
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
G=0.00009/1
(TOMMO)
- HGVS:
11.
rs1483909184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:17560741
(GRCh38)
X:17578862
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17560740:T:A
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1483714229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:17559558
(GRCh38)
X:17577679
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17559557:G:A
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
13.
rs1482349353 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:17556434
(GRCh38)
X:17574555
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17556433:G:A
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000019/2
(GnomAD)
- HGVS:
14.
rs1482339685 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- X:17554592
(GRCh38)
X:17572713
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17554591:G:A,NC_000023.11:17554591:G:T
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000029/3
(GnomAD)
- HGVS:
15.
rs1482039942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:17557003
(GRCh38)
X:17575124
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557002:G:A
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
16.
rs1481824190 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTC>-
[Show Flanks]
- Chromosome:
- X:17559899
(GRCh38)
X:17578020
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17559894:CTTCCTTC:CTTC
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTTCCTTC=0.000071/1
(
ALFA)
-=0.000068/7
(GnomAD)
-=0.000079/21
(TOPMED)
- HGVS:
17.
rs1481813568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:17558046
(GRCh38)
X:17576167
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17558045:C:T
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (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:
18.
rs1481189289 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:17554134
(GRCh38)
X:17572255
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17554133:A:G
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
20.
rs1481007618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:17557481
(GRCh38)
X:17575602
(GRCh37)
- Canonical SPDI:
- NC_000023.11:17557480:T:C
- Gene:
- NHS (Varview), NHS-AS1 (Varview), LOC101928389 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: