Links from Gene
Items: 1 to 20 of 9331
1.
rs1491545628 has merged into rs11376681 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:71211617
(GRCh38)
2:71438747
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71211602:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:71211602:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:71211602:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:71211602:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:71211602:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:71211602:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:71211602:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:71211602:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3093/1549
(1000Genomes)
- HGVS:
NC_000002.12:g.71211617_71211619del, NC_000002.12:g.71211618_71211619del, NC_000002.12:g.71211619del, NC_000002.12:g.71211619dup, NC_000002.12:g.71211618_71211619dup, NC_000002.12:g.71211617_71211619dup, NC_000002.12:g.71211616_71211619dup, NC_000002.12:g.71211612_71211619dup, NC_000002.11:g.71438747_71438749del, NC_000002.11:g.71438748_71438749del, NC_000002.11:g.71438749del, NC_000002.11:g.71438749dup, NC_000002.11:g.71438748_71438749dup, NC_000002.11:g.71438747_71438749dup, NC_000002.11:g.71438746_71438749dup, NC_000002.11:g.71438742_71438749dup
3.
rs1491526026 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:71192261
(GRCh38)
2:71419392
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71192261::T,NC_000002.12:71192261::TTTTTTTTTTT
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0.000061/1
(
ALFA)
T=0.000617/63
(GnomAD)
- HGVS:
4.
rs1491442320 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G
[Show Flanks]
- Chromosome:
- 2:71201008
(GRCh38)
2:71428138
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71201006:GGG:G,NC_000002.12:71201006:GGG:GG
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.02386/283
(
ALFA)
-=0.03425/15
(NorthernSweden)
-=0.05/2
(GENOME_DK)
- HGVS:
5.
rs1491431385 has merged into rs56008115 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:71189017
(GRCh38)
2:71416147
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71189004:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:71189004:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:71189004:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:71189004:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:71189004:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:71189004:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:71189004:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71189004:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71189004:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71189004:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71189004:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71189004:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71189004:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:71189004:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.71189017_71189025del, NC_000002.12:g.71189019_71189025del, NC_000002.12:g.71189022_71189025del, NC_000002.12:g.71189023_71189025del, NC_000002.12:g.71189024_71189025del, NC_000002.12:g.71189025del, NC_000002.12:g.71189025dup, NC_000002.12:g.71189024_71189025dup, NC_000002.12:g.71189023_71189025dup, NC_000002.12:g.71189022_71189025dup, NC_000002.12:g.71189021_71189025dup, NC_000002.12:g.71189020_71189025dup, NC_000002.12:g.71189019_71189025dup, NC_000002.12:g.71189025_71189026insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.71416147_71416155del, NC_000002.11:g.71416149_71416155del, NC_000002.11:g.71416152_71416155del, NC_000002.11:g.71416153_71416155del, NC_000002.11:g.71416154_71416155del, NC_000002.11:g.71416155del, NC_000002.11:g.71416155dup, NC_000002.11:g.71416154_71416155dup, NC_000002.11:g.71416153_71416155dup, NC_000002.11:g.71416152_71416155dup, NC_000002.11:g.71416151_71416155dup, NC_000002.11:g.71416150_71416155dup, NC_000002.11:g.71416149_71416155dup, NC_000002.11:g.71416155_71416156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491348953 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:71192263
(GRCh38)
2:71419394
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71192263::C
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
8.
rs1491339931 has merged into rs56380844 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:71192275
(GRCh38)
2:71419405
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71192262:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:71192262:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:71192262:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:71192262:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:71192262:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:71192262:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:71192262:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:71192262:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:71192262:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.2416/1210
(1000Genomes)
- HGVS:
NC_000002.12:g.71192275_71192279del, NC_000002.12:g.71192276_71192279del, NC_000002.12:g.71192277_71192279del, NC_000002.12:g.71192278_71192279del, NC_000002.12:g.71192279del, NC_000002.12:g.71192279dup, NC_000002.12:g.71192278_71192279dup, NC_000002.12:g.71192277_71192279dup, NC_000002.12:g.71192276_71192279dup, NC_000002.11:g.71419405_71419409del, NC_000002.11:g.71419406_71419409del, NC_000002.11:g.71419407_71419409del, NC_000002.11:g.71419408_71419409del, NC_000002.11:g.71419409del, NC_000002.11:g.71419409dup, NC_000002.11:g.71419408_71419409dup, NC_000002.11:g.71419407_71419409dup, NC_000002.11:g.71419406_71419409dup
10.
rs1491120413 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGGG,TGTGTGTGGG
[Show Flanks]
- Chromosome:
- 2:71194492
(GRCh38)
2:71421623
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71194492:G:GTGGG,NC_000002.12:71194492:G:GTGTGTGTGGG
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGGG=0./0
(
ALFA)
GTGTGTGTGG=0.000004/1
(TOPMED)
GTGG=0.00004/5
(GnomAD)
GTGG=0.00118/20
(TOMMO)
- HGVS:
11.
rs1491008379 has merged into rs375101568 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:71201399
(GRCh38)
2:71428529
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71201386:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:71201386:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:71201386:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:71201386:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:71201386:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:71201386:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.172422/724
(1000Genomes)
- HGVS:
NC_000002.12:g.71201399_71201401del, NC_000002.12:g.71201400_71201401del, NC_000002.12:g.71201401del, NC_000002.12:g.71201401dup, NC_000002.12:g.71201400_71201401dup, NC_000002.12:g.71201393_71201401dup, NC_000002.11:g.71428529_71428531del, NC_000002.11:g.71428530_71428531del, NC_000002.11:g.71428531del, NC_000002.11:g.71428531dup, NC_000002.11:g.71428530_71428531dup, NC_000002.11:g.71428523_71428531dup
12.
rs1490937771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:71224431
(GRCh38)
2:71451561
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71224430:G:A
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490808112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:71206644
(GRCh38)
2:71433774
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71206643:T:C
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
14.
rs1490804224 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:71198850
(GRCh38)
2:71425981
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71198850:TTTTTTT:TTTTTTTT
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490793518 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:71198258
(GRCh38)
2:71425388
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71198257:A:T
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.01095/32
(KOREAN)
- HGVS:
17.
rs1490716538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:71215632
(GRCh38)
2:71442762
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71215631:A:C
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490626375 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 2:71197810
(GRCh38)
2:71424940
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71197809:CC:C
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
19.
rs1490619515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:71205559
(GRCh38)
2:71432689
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71205558:C:A
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
20.
rs1490603073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:71213724
(GRCh38)
2:71440854
(GRCh37)
- Canonical SPDI:
- NC_000002.12:71213723:A:G
- Gene:
- PAIP2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: