Links from Gene
Items: 1 to 20 of 8169
2.
rs1491369462 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 19:55104180
(GRCh38)
19:55615548
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55104179:GT:
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00034/4
(
ALFA)
-=0.00029/8
(TOMMO)
-=0.0177/1701
(GnomAD)
- HGVS:
3.
rs1491211229 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CG
[Show Flanks]
- Chromosome:
- 19:55096953
(GRCh38)
19:55608322
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55096953::CG
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
CG=0.00144/17
(TOMMO)
- HGVS:
4.
rs1491024965 has merged into rs60249213 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 19:55119394
(GRCh38)
19:55630762
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55119392:TGT:T,NC_000019.10:55119392:TGT:TGTGT
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00008/1
(
ALFA)
-=0.00004/3
(GnomAD)
-=0.00032/9
(TOMMO)
- HGVS:
6.
rs1490783642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:55117674
(GRCh38)
19:55629042
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55117673:C:A,NC_000019.10:55117673:C:T
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000162/3
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000015/2
(GnomAD)
T=0.00067/3
(Estonian)
- HGVS:
8.
rs1490440842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:55115373
(GRCh38)
19:55626741
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55115372:A:C
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490428013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:55099115
(GRCh38)
19:55610483
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55099114:A:G
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
- HGVS:
10.
rs1490351688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:55096105
(GRCh38)
19:55607473
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55096104:C:T
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.55096105C>T, NC_000019.9:g.55607473C>T, XM_005259013.5:c.1099G>A, XM_005259013.4:c.1099G>A, XM_005259013.3:c.1099G>A, XM_005259013.2:c.1099G>A, XM_005259013.1:c.1099G>A, NM_017607.4:c.1099G>A, NM_017607.3:c.1099G>A, XM_011527045.3:c.1099G>A, XM_011527045.2:c.1099G>A, XM_011527045.1:c.1099G>A, NM_001271618.2:c.1099G>A, NM_001271618.1:c.1099G>A, XR_007066879.1:n.1193G>A, XP_005259070.1:p.Gly367Arg, NP_060077.1:p.Gly367Arg, XP_011525347.1:p.Gly367Arg, NP_001258547.1:p.Gly367Arg
11.
rs1490347516 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 19:55101243
(GRCh38)
19:55612611
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55101242:T:A,NC_000019.10:55101242:T:C
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
12.
rs1490191966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:55101433
(GRCh38)
19:55612801
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55101432:G:C
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489935763 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:55098808
(GRCh38)
19:55610176
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55098807:C:T
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000085/3
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000019.10:g.55098808C>T, NC_000019.9:g.55610176C>T, XM_005259013.5:c.927G>A, XM_005259013.4:c.927G>A, XM_005259013.3:c.927G>A, XM_005259013.2:c.927G>A, XM_005259013.1:c.927G>A, NM_017607.4:c.927G>A, NM_017607.3:c.927G>A, XM_011527045.3:c.927G>A, XM_011527045.2:c.927G>A, XM_011527045.1:c.927G>A, NM_001271618.2:c.927G>A, NM_001271618.1:c.927G>A, XR_007066879.1:n.1021G>A
14.
rs1489872679 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CG
[Show Flanks]
- Chromosome:
- 19:55114511
(GRCh38)
19:55625880
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55114511:G:GCG
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCG=0./0
(
ALFA)
GC=0.000034/9
(TOPMED)
GC=0.000064/9
(GnomAD)
- HGVS:
15.
rs1489842478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:55102105
(GRCh38)
19:55613473
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55102104:G:A
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489706955 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:55100051
(GRCh38)
19:55611419
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55100050:G:A
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489467717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:55117590
(GRCh38)
19:55628958
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55117589:C:T
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000015/2
(GnomAD)
- HGVS:
NC_000019.10:g.55117590C>T, NC_000019.9:g.55628958C>T, XM_005259013.5:c.-47G>A, XM_005259013.4:c.-47G>A, XM_005259013.3:c.-47G>A, XM_005259013.1:c.-47G>A, NM_017607.4:c.-47G>A, NM_017607.3:c.-47G>A, XM_011527045.3:c.-47G>A, XM_011527045.2:c.-47G>A, XM_011527045.1:c.-47G>A, NM_001271618.2:c.-47G>A, NM_001271618.1:c.-47G>A, XR_007066879.1:n.48G>A
18.
rs1489343548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:55111039
(GRCh38)
19:55622407
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55111038:T:C
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000022/3
(GnomAD)
- HGVS:
19.
rs1489293040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:55113009
(GRCh38)
19:55624377
(GRCh37)
- Canonical SPDI:
- NC_000019.10:55113008:C:A,NC_000019.10:55113008:C:T
- Gene:
- PPP1R12C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS: