Links from Gene
Items: 1 to 20 of 1702
1.
rs1489825476 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:21937373
(GRCh38)
22:22291745
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21937372:G:A,NC_000022.11:21937372:G:C
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489575238 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 22:21939435
(GRCh38)
22:22293807
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21939434:C:A,NC_000022.11:21939434:C:G
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
G=0.00006/1
(TOMMO)
- HGVS:
3.
rs1488679634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:21940016
(GRCh38)
22:22294388
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21940015:T:C
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000546/1
(Korea1K)
- HGVS:
4.
rs1487210069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21937578
(GRCh38)
22:22291950
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21937577:C:T
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
T=0.000102/27
(TOPMED)
T=0.000156/1
(1000Genomes)
T=0.001132/19
(TOMMO)
T=0.003082/9
(KOREAN)
T=0.004367/8
(Korea1K)
- HGVS:
5.
rs1487034952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 22:21937706
(GRCh38)
22:22292078
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21937705:C:G,NC_000022.11:21937705:C:T
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000546/1
(Korea1K)
- HGVS:
6.
rs1485412522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21941024
(GRCh38)
22:22295396
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21941023:G:A
- Gene:
- PPM1F (Varview), PPM1F-AS1 (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:
7.
rs1485397807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21942611
(GRCh38)
22:22296983
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21942610:C:T
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1485335406 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 22:21940435
(GRCh38)
22:22294807
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21940434:T:A
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000022/3
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
9.
rs1485136844 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21937813
(GRCh38)
22:22292185
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21937812:C:T
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1484276751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21938178
(GRCh38)
22:22292550
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21938177:G:A
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
11.
rs1484193689 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 22:21943905
(GRCh38)
22:22298277
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21943904:C:A
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1483604490 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 22:21936461
(GRCh38)
22:22290833
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21936460:G:A,NC_000022.11:21936460:G:T
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
A=0.000546/1
(Korea1K)
A=0.000684/2
(KOREAN)
- HGVS:
13.
rs1483501240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21942549
(GRCh38)
22:22296921
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21942548:C:T
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1483070939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21942509
(GRCh38)
22:22296881
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21942508:C:T
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1482902864 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:21939868
(GRCh38)
22:22294240
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21939867:G:T
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1482459288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:21939260
(GRCh38)
22:22293632
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21939259:G:T
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
17.
rs1482130002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:21940450
(GRCh38)
22:22294822
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21940449:G:C
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1482069534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 22:21941644
(GRCh38)
22:22296016
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21941643:A:C
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
19.
rs1481630515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21943022
(GRCh38)
22:22297394
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21943021:G:A
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1481282706 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:21937369
(GRCh38)
22:22291741
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21937368:T:C
- Gene:
- PPM1F (Varview), PPM1F-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS: