Links from Gene
Items: 1 to 20 of 9851
2.
rs1491048527 has merged into rs10567583 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:64310201
(GRCh38)
2:64537335
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.64310201_64310213del, NC_000002.12:g.64310202_64310213del, NC_000002.12:g.64310203_64310213del, NC_000002.12:g.64310204_64310213del, NC_000002.12:g.64310205_64310213del, NC_000002.12:g.64310206_64310213del, NC_000002.12:g.64310207_64310213del, NC_000002.12:g.64310208_64310213del, NC_000002.12:g.64310209_64310213del, NC_000002.12:g.64310210_64310213del, NC_000002.12:g.64310211_64310213del, NC_000002.12:g.64310212_64310213del, NC_000002.12:g.64310213del, NC_000002.12:g.64310213dup, NC_000002.12:g.64310212_64310213dup, NC_000002.12:g.64310211_64310213dup, NC_000002.12:g.64310210_64310213dup, NC_000002.12:g.64310209_64310213dup, NC_000002.12:g.64310206_64310213dup, NC_000002.12:g.64310204_64310213dup, NC_000002.12:g.64310196_64310213dup, NC_000002.12:g.64310213_64310214insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.64537335_64537347del, NC_000002.11:g.64537336_64537347del, NC_000002.11:g.64537337_64537347del, NC_000002.11:g.64537338_64537347del, NC_000002.11:g.64537339_64537347del, NC_000002.11:g.64537340_64537347del, NC_000002.11:g.64537341_64537347del, NC_000002.11:g.64537342_64537347del, NC_000002.11:g.64537343_64537347del, NC_000002.11:g.64537344_64537347del, NC_000002.11:g.64537345_64537347del, NC_000002.11:g.64537346_64537347del, NC_000002.11:g.64537347del, NC_000002.11:g.64537347dup, NC_000002.11:g.64537346_64537347dup, NC_000002.11:g.64537345_64537347dup, NC_000002.11:g.64537344_64537347dup, NC_000002.11:g.64537343_64537347dup, NC_000002.11:g.64537340_64537347dup, NC_000002.11:g.64537338_64537347dup, NC_000002.11:g.64537330_64537347dup, NC_000002.11:g.64537347_64537348insAAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491000661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:64310185
(GRCh38)
2:64537319
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64310184:T:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00005/5
(GnomAD)
- HGVS:
6.
rs1490929061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:64308271
(GRCh38)
2:64535405
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64308270:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490870438 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:64345740
(GRCh38)
2:64572874
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64345739:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000034/9
(TOPMED)
A=0.000223/1
(Estonian)
- HGVS:
8.
rs1490838803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:64305126
(GRCh38)
2:64532260
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64305125:C:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490754118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:64320983
(GRCh38)
2:64548117
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64320982:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490718803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:64326605
(GRCh38)
2:64553739
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64326604:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490685561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:64336573
(GRCh38)
2:64563707
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64336572:C:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490508955 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:64311208
(GRCh38)
2:64538342
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64311207:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
13.
rs1490480140 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:64329070
(GRCh38)
2:64556204
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64329069:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490400144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:64344921
(GRCh38)
2:64572055
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64344920:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490225144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:64312191
(GRCh38)
2:64539325
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64312190:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490159112 has merged into rs35028606 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:64313076
(GRCh38)
2:64540210
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.45/18
(GENOME_DK)
-=0.4788/2398
(1000Genomes)
- HGVS:
NC_000002.12:g.64313076_64313081del, NC_000002.12:g.64313078_64313081del, NC_000002.12:g.64313079_64313081del, NC_000002.12:g.64313080_64313081del, NC_000002.12:g.64313081del, NC_000002.12:g.64313081dup, NC_000002.12:g.64313080_64313081dup, NC_000002.12:g.64313079_64313081dup, NC_000002.11:g.64540210_64540215del, NC_000002.11:g.64540212_64540215del, NC_000002.11:g.64540213_64540215del, NC_000002.11:g.64540214_64540215del, NC_000002.11:g.64540215del, NC_000002.11:g.64540215dup, NC_000002.11:g.64540214_64540215dup, NC_000002.11:g.64540213_64540215dup
17.
rs1490151798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:64328112
(GRCh38)
2:64555246
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64328111:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
G=0.5/1
(SGDP_PRJ)
- HGVS:
18.
rs1490113441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:64306964
(GRCh38)
2:64534098
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64306963:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
19.
rs1490072858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 2:64343953
(GRCh38)
2:64571087
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64343952:T:A,NC_000002.12:64343952:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490047094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:64345061
(GRCh38)
2:64572195
(GRCh37)
- Canonical SPDI:
- NC_000002.12:64345060:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: