Links from Gene
Items: 1 to 20 of 543
1.
rs1490976590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:27834489
(GRCh38)
1:28161000
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27834488:A:G
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
2.
rs1489835708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:27835027
(GRCh38)
1:28161538
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27835026:A:T
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
3.
rs1489549169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:27833455
(GRCh38)
1:28159966
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27833454:T:C
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview), LOC124903885 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000094/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1486684866 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 1:27834906
(GRCh38)
1:28161417
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27834905:T:
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
5.
rs1486328739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:27834451
(GRCh38)
1:28160962
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27834450:C:T
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
6.
rs1486179552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:27833492
(GRCh38)
1:28160003
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27833491:C:G
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview), LOC124903885 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1485200435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:27833130
(GRCh38)
1:28159641
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27833129:C:A
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview), LOC124903885 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1484055456 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:27834405
(GRCh38)
1:28160916
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27834404:A:T
- Gene:
- PPP1R8 (Varview), SCARNA1 (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
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1481720949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:27834370
(GRCh38)
1:28160881
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27834369:A:C
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
10.
rs1480424811 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGATAACCAGGTA>-
[Show Flanks]
- Chromosome:
- 1:27833840
(GRCh38)
1:28160351
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27833836:GTAGAGATAACCAGGTA:GTA
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTA=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
11.
rs1479964855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:27834606
(GRCh38)
1:28161117
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27834605:C:T
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1478364978 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:27835034
(GRCh38)
1:28161545
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27835033:C:T
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1478302682 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:27834101
(GRCh38)
1:28160613
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27834101::A
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1476019022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:27834278
(GRCh38)
1:28160789
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27834277:C:A,NC_000001.11:27834277:C:T
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000071/2
(TOMMO)
- HGVS:
16.
rs1475191640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:27833218
(GRCh38)
1:28159729
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27833217:C:G
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview), LOC124903885 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
17.
rs1473614780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:27832856
(GRCh38)
1:28159367
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27832855:A:C,NC_000001.11:27832855:A:G
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview), LOC124903885 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000054/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000223/1
(Estonian)
- HGVS:
19.
rs1471916162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:27833271
(GRCh38)
1:28159782
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27833270:G:A,NC_000001.11:27833270:G:C
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview), LOC124903885 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1469314887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:27834797
(GRCh38)
1:28161308
(GRCh37)
- Canonical SPDI:
- NC_000001.11:27834796:C:A
- Gene:
- PPP1R8 (Varview), SCARNA1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,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: