Links from Gene
Items: 1 to 20 of 1025
1.
rs1491412434 has merged into rs9299384 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:104990336
(GRCh38)
9:107752617
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:104990325:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CT70 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.2063/1033
(1000Genomes)
- HGVS:
NC_000009.12:g.104990336_104990344del, NC_000009.12:g.104990338_104990344del, NC_000009.12:g.104990340_104990344del, NC_000009.12:g.104990341_104990344del, NC_000009.12:g.104990342_104990344del, NC_000009.12:g.104990343_104990344del, NC_000009.12:g.104990344del, NC_000009.12:g.104990344dup, NC_000009.12:g.104990343_104990344dup, NC_000009.12:g.104990342_104990344dup, NC_000009.12:g.104990341_104990344dup, NC_000009.12:g.104990340_104990344dup, NC_000009.12:g.104990339_104990344dup, NC_000009.12:g.104990338_104990344dup, NC_000009.12:g.104990337_104990344dup, NC_000009.12:g.104990336_104990344dup, NC_000009.12:g.104990335_104990344dup, NC_000009.12:g.104990331_104990344dup, NC_000009.12:g.104990330_104990344dup, NC_000009.12:g.104990329_104990344dup, NC_000009.12:g.104990328_104990344dup, NC_000009.12:g.104990327_104990344dup, NC_000009.12:g.104990344_104990345insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.107752617_107752625del, NC_000009.11:g.107752619_107752625del, NC_000009.11:g.107752621_107752625del, NC_000009.11:g.107752622_107752625del, NC_000009.11:g.107752623_107752625del, NC_000009.11:g.107752624_107752625del, NC_000009.11:g.107752625del, NC_000009.11:g.107752625dup, NC_000009.11:g.107752624_107752625dup, NC_000009.11:g.107752623_107752625dup, NC_000009.11:g.107752622_107752625dup, NC_000009.11:g.107752621_107752625dup, NC_000009.11:g.107752620_107752625dup, NC_000009.11:g.107752619_107752625dup, NC_000009.11:g.107752618_107752625dup, NC_000009.11:g.107752617_107752625dup, NC_000009.11:g.107752616_107752625dup, NC_000009.11:g.107752612_107752625dup, NC_000009.11:g.107752611_107752625dup, NC_000009.11:g.107752610_107752625dup, NC_000009.11:g.107752609_107752625dup, NC_000009.11:g.107752608_107752625dup, NC_000009.11:g.107752625_107752626insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1488867444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:104991638
(GRCh38)
9:107753919
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104991637:T:C
- Gene:
- CT70 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
4.
rs1488198739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:104989649
(GRCh38)
9:107751930
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104989648:C:T
- Gene:
- CT70 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1486801630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:104992737
(GRCh38)
9:107755018
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104992736:C:T
- Gene:
- CT70 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
6.
rs1485705736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:104990718
(GRCh38)
9:107752999
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104990717:G:C
- Gene:
- CT70 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
7.
rs1485223078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:104991386
(GRCh38)
9:107753667
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104991385:A:C
- Gene:
- CT70 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1485147350 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:104993790
(GRCh38)
9:107756071
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104993789:C:T
- Gene:
- CT70 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1484053638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:104991546
(GRCh38)
9:107753827
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104991545:T:G
- Gene:
- CT70 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000156/1
(1000Genomes)
G=0.000685/2
(KOREAN)
- HGVS:
11.
rs1482724762 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:104991166
(GRCh38)
9:107753447
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104991165:C:A,NC_000009.12:104991165:C:T
- Gene:
- CT70 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.104991166C>A, NC_000009.12:g.104991166C>T, NC_000009.11:g.107753447C>A, NC_000009.11:g.107753447C>T, XR_002956864.2:n.248G>T, XR_002956864.2:n.248G>A, XR_002956864.1:n.299G>T, XR_002956864.1:n.299G>A, XR_001746867.2:n.528G>T, XR_001746867.2:n.528G>A, XR_001746867.1:n.598G>T, XR_001746867.1:n.598G>A, XR_001746866.2:n.248G>T, XR_001746866.2:n.248G>A, XR_001746866.1:n.318G>T, XR_001746866.1:n.318G>A, XR_007061708.1:n.248G>T, XR_007061708.1:n.248G>A, XR_007061707.1:n.248G>T, XR_007061707.1:n.248G>A
12.
rs1482205543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:104993523
(GRCh38)
9:107755804
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104993522:C:T
- Gene:
- CT70 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1482092210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:104992367
(GRCh38)
9:107754648
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104992366:G:T
- Gene:
- CT70 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1481677152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:104993322
(GRCh38)
9:107755603
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104993321:G:A
- Gene:
- CT70 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1480388359 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 9:104993511
(GRCh38)
9:107755792
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104993509:AGA:A
- Gene:
- CT70 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.00003/8
(TOPMED)
- HGVS:
16.
rs1479830392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:104990452
(GRCh38)
9:107752733
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104990451:G:T
- Gene:
- CT70 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1479109663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:104991141
(GRCh38)
9:107753422
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104991140:C:A
- Gene:
- CT70 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1478996250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:104989456
(GRCh38)
9:107751737
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104989455:G:T
- Gene:
- CT70 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000049/13
(TOPMED)
T=0.000212/4
(TOMMO)
T=0.000684/2
(KOREAN)
- HGVS:
19.
rs1476828832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 9:104990473
(GRCh38)
9:107752754
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104990472:T:A,NC_000009.12:104990472:T:G
- Gene:
- CT70 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000094/1
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
20.
rs1476244631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:104992948
(GRCh38)
9:107755229
(GRCh37)
- Canonical SPDI:
- NC_000009.12:104992947:G:A
- Gene:
- CT70 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: