Links from Gene
Items: 1 to 20 of 1015
1.
rs1488214017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:65897341
(GRCh38)
2:66124475
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65897340: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:
2.
rs1487582814 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:65898916
(GRCh38)
2:66126050
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65898915:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
3.
rs1486118217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:65895740
(GRCh38)
2:66122874
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65895739:C:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.001092/2
(Korea1K)
- HGVS:
4.
rs1485096193 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 2:65896460
(GRCh38)
2:66123594
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65896459:A:C,NC_000002.12:65896459:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
5.
rs1485044772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:65896358
(GRCh38)
2:66123492
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65896357:C:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
6.
rs1484794892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:65897201
(GRCh38)
2:66124335
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65897200:A:C,NC_000002.12:65897200:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1484745118 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 2:65896326
(GRCh38)
2:66123460
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65896325:A:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1483412977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:65896678
(GRCh38)
2:66123812
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65896677:T:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
A=0.021667/13
(NorthernSweden)
- HGVS:
9.
rs1483193224 has merged into rs973021760 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 2:65898506
(GRCh38)
2:66125640
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65898505:TTTTTTTT:TTTTTTT,NC_000002.12:65898505:TTTTTTTT:TTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
10.
rs1482772120 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:65897073
(GRCh38)
2:66124207
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65897072:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1482737138 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TCTGT
[Show Flanks]
- Chromosome:
- 2:65899169
(GRCh38)
2:66126304
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65899169::TCTGT
- Validated:
- by frequency,by cluster
- MAF:
TCTGT=0.00015/21
(GnomAD)
TCTGT=0.000156/1
(1000Genomes)
- HGVS:
12.
rs1482244981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:65898505
(GRCh38)
2:66125639
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65898504:G:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1481209242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 2:65899062
(GRCh38)
2:66126196
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65899061:T:C,NC_000002.12:65899061:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
C=0.000546/1
(Korea1K)
- HGVS:
15.
rs1480214954 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:65899515
(GRCh38)
2:66126649
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65899514:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
16.
rs1479423702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:65896247
(GRCh38)
2:66123381
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65896246:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.00003/8
(TOPMED)
C=0.00005/7
(GnomAD)
- HGVS:
17.
rs1478698861 has merged into rs3058945 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 2:65897022
(GRCh38)
2:66124156
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:65897010:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.328671/86996
(TOPMED)
- HGVS:
NC_000002.12:g.65897022_65897026del, NC_000002.12:g.65897023_65897026del, NC_000002.12:g.65897024_65897026del, NC_000002.12:g.65897025_65897026del, NC_000002.12:g.65897026del, NC_000002.12:g.65897026dup, NC_000002.12:g.65897025_65897026dup, NC_000002.12:g.65897024_65897026dup, NC_000002.11:g.66124156_66124160del, NC_000002.11:g.66124157_66124160del, NC_000002.11:g.66124158_66124160del, NC_000002.11:g.66124159_66124160del, NC_000002.11:g.66124160del, NC_000002.11:g.66124160dup, NC_000002.11:g.66124159_66124160dup, NC_000002.11:g.66124158_66124160dup
18.
rs1475604826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:65895840
(GRCh38)
2:66122974
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65895839: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:
19.
rs1475420532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:65899723
(GRCh38)
2:66126857
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65899722:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
20.
rs1474929127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:65897572
(GRCh38)
2:66124706
(GRCh37)
- Canonical SPDI:
- NC_000002.12:65897571:T:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: