Links from Gene
Items: 1 to 20 of 1560
1.
rs1491077205 has merged into rs35525827 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA
[Show Flanks]
- Chromosome:
- 2:146589870
(GRCh38)
2:147347438
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146589858:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:146589858:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:146589858:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:146589858:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.003/11
(TWINSUK)
A=0.0031/12
(ALSPAC)
A=0.0233/14
(NorthernSweden)
A=0.0341/34
(GoNL)
A=0.05/2
(GENOME_DK)
- HGVS:
NC_000002.12:g.146589870_146589872del, NC_000002.12:g.146589871_146589872del, NC_000002.12:g.146589872del, NC_000002.12:g.146589872dup, NC_000002.11:g.147347438_147347440del, NC_000002.11:g.147347439_147347440del, NC_000002.11:g.147347440del, NC_000002.11:g.147347440dup, NR_026904.1:n.2814_2816del, NR_026904.1:n.2815_2816del, NR_026904.1:n.2816del, NR_026904.1:n.2816dup
2.
rs1490609252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:146585108
(GRCh38)
2:147342676
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146585107:T:C
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0./0
(GnomAD)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490240642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:146590707
(GRCh38)
2:147348275
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146590706:C:G
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
4.
rs1489275457 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:146587503
(GRCh38)
2:147345071
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146587502:G:A
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1489223188 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAATGATTT
[Show Flanks]
- Chromosome:
- 2:146586618
(GRCh38)
2:147344187
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146586618:TCAATGATTT:TCAATGATTTCAATGATTT
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TCAATGATTTCAATGATTT=0./0
(
ALFA)
TCAATGATT=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489059833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 2:146590249
(GRCh38)
2:147347817
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146590248:T:A,NC_000002.12:146590248:T:C
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
8.
rs1488731807 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACCATTGCACTCCAGC>-
[Show Flanks]
- Chromosome:
- 2:146589812
(GRCh38)
2:147347380
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146589809:GCACCATTGCACTCCAGC:GC
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GC=0./0
(
ALFA)
-=0.000022/3
(GnomAD)
-=0.000113/30
(TOPMED)
- HGVS:
9.
rs1488629523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:146590711
(GRCh38)
2:147348279
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146590710:T:A
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
10.
rs1488335949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 2:146589747
(GRCh38)
2:147347315
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146589746:A:C,NC_000002.12:146589746:A:G,NC_000002.12:146589746:A:T
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1488113711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:146589715
(GRCh38)
2:147347283
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146589714:C:T
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000342/1
(KOREAN)
T=0.000389/7
(TOMMO)
T=0.001092/2
(Korea1K)
- HGVS:
12.
rs1488113279 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:146588193
(GRCh38)
2:147345761
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146588192:A:G
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1487625540 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:146589486
(GRCh38)
2:147347054
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146589485:C:A,NC_000002.12:146589485:C:T
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
14.
rs1487095179 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:146589378
(GRCh38)
2:147346946
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146589377:C:T
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1487000375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:146590275
(GRCh38)
2:147347843
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146590274:T:A
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1485664157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:146587136
(GRCh38)
2:147344704
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146587135:T:G
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1484927974 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:146586999
(GRCh38)
2:147344567
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146586998:G:C
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1484218237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:146585123
(GRCh38)
2:147342691
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146585122:T:C
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000066/1
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
19.
rs1483557018 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:146588431
(GRCh38)
2:147345999
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146588430:A:G
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1483138882 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:146587429
(GRCh38)
2:147344997
(GRCh37)
- Canonical SPDI:
- NC_000002.12:146587428:G:T
- Gene:
- PABPC1P2 (Varview), LOC124907895 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: