Links from Gene
Items: 1 to 20 of 5221
3.
rs1491083455 has merged into rs60838142 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- X:69180539
(GRCh38)
X:68400382
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69180528:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:69180528:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:69180528:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:69180528:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:69180528:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:69180528:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0.0003/2
(
ALFA)
A=0.1277/482
(1000Genomes)
- HGVS:
NC_000023.11:g.69180539_69180542del, NC_000023.11:g.69180541_69180542del, NC_000023.11:g.69180542del, NC_000023.11:g.69180542dup, NC_000023.11:g.69180541_69180542dup, NC_000023.11:g.69180540_69180542dup, NC_000023.10:g.68400382_68400385del, NC_000023.10:g.68400384_68400385del, NC_000023.10:g.68400385del, NC_000023.10:g.68400385dup, NC_000023.10:g.68400384_68400385dup, NC_000023.10:g.68400383_68400385dup
5.
rs1490731446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:69188241
(GRCh38)
X:68408084
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69188240:T:C
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
6.
rs1490442474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:69185900
(GRCh38)
X:68405743
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69185899:A:G
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
7.
rs1490389121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:69206372
(GRCh38)
X:68426215
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69206371:A:G
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
8.
rs1490354909 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:69207979
(GRCh38)
X:68427822
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69207978:G:C
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
9.
rs1490244890 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:69186876
(GRCh38)
X:68406719
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69186875:C:T
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000245/4
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000019/2
(GnomAD)
T=0.000416/2
(1000Genomes)
- HGVS:
10.
rs1490232956 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:69196162
(GRCh38)
X:68416005
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69196161:G:C
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490218083 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:69193366
(GRCh38)
X:68413209
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69193365:A:C
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
- HGVS:
14.
rs1489716271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:69199683
(GRCh38)
X:68419526
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69199682:G:A
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000048/5
(GnomAD)
- HGVS:
15.
rs1489549624 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:69183045
(GRCh38)
X:68402888
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69183044:G:A
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000029/3
(GnomAD)
A=0.000034/9
(TOPMED)
- HGVS:
16.
rs1489428813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:69178049
(GRCh38)
X:68397892
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69178048:T:C
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
17.
rs1489376911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- X:69198419
(GRCh38)
X:68418262
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69198418:C:A,NC_000023.11:69198418:C:G
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
18.
rs1489360906 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:69198629
(GRCh38)
X:68418472
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69198628:G:A
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000019/2
(GnomAD)
- HGVS:
19.
rs1488991955 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:69188696
(GRCh38)
X:68408539
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69188695:A:T
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1488512734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:69188820
(GRCh38)
X:68408663
(GRCh37)
- Canonical SPDI:
- NC_000023.11:69188819:C:T
- Gene:
- LINC00269 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS: