Links from Gene
Items: 1 to 20 of 1000
1.
rs1491366978 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:151783969
(GRCh38)
2:152640484
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151783969:T:TT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
2.
rs1491316647 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:151780732
(GRCh38)
2:152637246
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151780731:CA:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00244/29
(
ALFA)
-=0.00118/32
(TOMMO)
- HGVS:
3.
rs1491147210 has merged into rs58848134 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:151780743
(GRCh38)
2:152637257
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151780732:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:151780732:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:151780732:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:151780732:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:151780732:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:151780732:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:151780732:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:151780732:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:151780732:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:151780732:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:151780732:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:151780732:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:151780732:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:151780732:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.151780743_151780754del, NC_000002.12:g.151780749_151780754del, NC_000002.12:g.151780750_151780754del, NC_000002.12:g.151780751_151780754del, NC_000002.12:g.151780752_151780754del, NC_000002.12:g.151780753_151780754del, NC_000002.12:g.151780754del, NC_000002.12:g.151780754dup, NC_000002.12:g.151780753_151780754dup, NC_000002.12:g.151780752_151780754dup, NC_000002.12:g.151780751_151780754dup, NC_000002.12:g.151780750_151780754dup, NC_000002.12:g.151780749_151780754dup, NC_000002.12:g.151780748_151780754dup, NC_000002.11:g.152637257_152637268del, NC_000002.11:g.152637263_152637268del, NC_000002.11:g.152637264_152637268del, NC_000002.11:g.152637265_152637268del, NC_000002.11:g.152637266_152637268del, NC_000002.11:g.152637267_152637268del, NC_000002.11:g.152637268del, NC_000002.11:g.152637268dup, NC_000002.11:g.152637267_152637268dup, NC_000002.11:g.152637266_152637268dup, NC_000002.11:g.152637265_152637268dup, NC_000002.11:g.152637264_152637268dup, NC_000002.11:g.152637263_152637268dup, NC_000002.11:g.152637262_152637268dup
4.
rs1490995394 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 2:151786249
(GRCh38)
2:152642763
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151786248:TT:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000312/2
(1000Genomes)
- HGVS:
5.
rs1490753882 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 2:151792691
(GRCh38)
2:152649205
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151792690:G:
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490690816 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 2:151777819
(GRCh38)
2:152634333
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151777818:AAAAAAA:AAAAAA
- Validated:
- by frequency,by alfa
- MAF:
AAAAAA=0.000071/1
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490600445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:151793695
(GRCh38)
2:152650209
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151793694:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490276555 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:151792699
(GRCh38)
2:152649213
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151792698:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490244839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:151778943
(GRCh38)
2:152635457
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151778942:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
10.
rs1490110802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:151776790
(GRCh38)
2:152633304
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151776789:A:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000054/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
11.
rs1489982871 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATG>-
[Show Flanks]
- Chromosome:
- 2:151793204
(GRCh38)
2:152649718
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151793200:ATGATG:ATG
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATGATG=0./0
(
ALFA)
-=0.00003/8
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
12.
rs1489714150 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:151778104
(GRCh38)
2:152634618
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151778103:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000066/1
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
13.
rs1489617375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:151788167
(GRCh38)
2:152644681
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151788166: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.
rs1489573539 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAAT>-
[Show Flanks]
- Chromosome:
- 2:151795438
(GRCh38)
2:152651952
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151795434:AATATAAT:AAT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489459533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:151776670
(GRCh38)
2:152633184
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151776669:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489182916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:151790204
(GRCh38)
2:152646718
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151790203:T:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489164185 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:151790991
(GRCh38)
2:152647505
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151790990:C:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1489041544 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:151780680
(GRCh38)
2:152637194
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151780679:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000074/9
(GnomAD)
- HGVS:
19.
rs1488988079 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:151788567
(GRCh38)
2:152645081
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151788566:G:A,NC_000002.12:151788566:G:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488941562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:151784625
(GRCh38)
2:152641139
(GRCh37)
- Canonical SPDI:
- NC_000002.12:151784624:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: