Links from Gene
Items: 1 to 20 of 4148
2.
rs1491482151 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 9:92152908
(GRCh38)
9:94915190
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92152906:TCT:T
- Gene:
- LINC00475 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
3.
rs1491468047 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 9:92146164
(GRCh38)
9:94908447
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92146164:G:GG
- Gene:
- LINC00475 (Varview), LOC124902345 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.000402/46
(GnomAD)
- HGVS:
4.
rs1491405905 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 9:92152907
(GRCh38)
9:94915190
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92152907:C:CC
- Gene:
- LINC00475 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000039/4
(GnomAD)
- HGVS:
5.
rs1491340133 has merged into rs34310564 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG
[Show Flanks]
- Chromosome:
- 9:92142158
(GRCh38)
9:94904440
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92142149:GGGGGGGGGG:GGGGGGGG,NC_000009.12:92142149:GGGGGGGGGG:GGGGGGGGG,NC_000009.12:92142149:GGGGGGGGGG:GGGGGGGGGGG,NC_000009.12:92142149:GGGGGGGGGG:GGGGGGGGGGGG
- Gene:
- LINC00475 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGG=0.0001/1
(
ALFA)
-=0.21251/788
(TWINSUK)
-=0.22989/886
(ALSPAC)
-=0.35224/1764
(1000Genomes)
- HGVS:
7.
rs1491150054 has merged into rs112166069 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:92151455
(GRCh38)
9:94913737
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92151448:AAAAAAAAAAAAAAAA:AAAAAA,NC_000009.12:92151448:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000009.12:92151448:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:92151448:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:92151448:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:92151448:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:92151448:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:92151448:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:92151448:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:92151448:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:92151448:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:92151448:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:92151448:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00475 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
-=0.12247/472
(ALSPAC)
-=0.12783/474
(TWINSUK)
- HGVS:
NC_000009.12:g.92151455_92151464del, NC_000009.12:g.92151456_92151464del, NC_000009.12:g.92151457_92151464del, NC_000009.12:g.92151458_92151464del, NC_000009.12:g.92151459_92151464del, NC_000009.12:g.92151460_92151464del, NC_000009.12:g.92151461_92151464del, NC_000009.12:g.92151462_92151464del, NC_000009.12:g.92151463_92151464del, NC_000009.12:g.92151464del, NC_000009.12:g.92151464dup, NC_000009.12:g.92151463_92151464dup, NC_000009.12:g.92151455_92151464dup, NC_000009.11:g.94913737_94913746del, NC_000009.11:g.94913738_94913746del, NC_000009.11:g.94913739_94913746del, NC_000009.11:g.94913740_94913746del, NC_000009.11:g.94913741_94913746del, NC_000009.11:g.94913742_94913746del, NC_000009.11:g.94913743_94913746del, NC_000009.11:g.94913744_94913746del, NC_000009.11:g.94913745_94913746del, NC_000009.11:g.94913746del, NC_000009.11:g.94913746dup, NC_000009.11:g.94913745_94913746dup, NC_000009.11:g.94913737_94913746dup
8.
rs1490721652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:92152806
(GRCh38)
9:94915088
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92152805:C:A
- Gene:
- LINC00475 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490631123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:92145625
(GRCh38)
9:94907907
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92145624:C:T
- Gene:
- LINC00475 (Varview), LOC124902345 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000064/9
(GnomAD)
T=0.000068/18
(TOPMED)
- HGVS:
11.
rs1490606482 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:92146435
(GRCh38)
9:94908717
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92146434:T:C
- Gene:
- LINC00475 (Varview), LOC124902345 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490363650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:92153678
(GRCh38)
9:94915960
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92153677:C:T
- Gene:
- LINC00475 (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:
13.
rs1490216314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:92149204
(GRCh38)
9:94911486
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92149203:G:A,NC_000009.12:92149203:G:C
- Gene:
- LINC00475 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000043/6
(GnomAD)
- HGVS:
14.
rs1490068144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:92155594
(GRCh38)
9:94917876
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92155593:C:T
- Gene:
- LINC00475 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
15.
rs1489940176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:92154044
(GRCh38)
9:94916326
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92154043:A:G
- Gene:
- LINC00475 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1489886434 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:92139658
(GRCh38)
9:94901940
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92139657:T:C
- Gene:
- LINC00475 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489658533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:92148249
(GRCh38)
9:94910531
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92148248:C:A
- Gene:
- LINC00475 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489505863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:92144590
(GRCh38)
9:94906872
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92144589:A:G
- Gene:
- LINC00475 (Varview), LOC124902345 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489141438 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:92148781
(GRCh38)
9:94911063
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92148780:C:T
- Gene:
- LINC00475 (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:
20.
rs1489064198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:92147449
(GRCh38)
9:94909731
(GRCh37)
- Canonical SPDI:
- NC_000009.12:92147448:C:T
- Gene:
- LINC00475 (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: