rs386134171

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs386134171(A;A)

Make rs386134171(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

53898097

Gene

PRKCG

is a	snp
is	mentioned by
dbSNP	rs386134171
dbSNP (classic)	rs386134171
ClinGen	rs386134171
ebi	rs386134171
HLI	rs386134171
Exac	rs386134171
Gnomad	rs386134171
Varsome	rs386134171
LitVar	rs386134171
Map	rs386134171
PheGenI	rs386134171
Biobank	rs386134171
1000 genomes	rs386134171
hgdp	rs386134171
ensembl	rs386134171
geneview	rs386134171
scholar	rs386134171
google	rs386134171
pharmgkb	rs386134171
gwascentral	rs386134171
openSNP	rs386134171
23andMe	rs386134171
SNPshot	rs386134171
SNPdbe	rs386134171
MSV3d	rs386134171
GWAS Ctlg	rs386134171

Max Magnitude

0

ClinVar
Risk	rs386134171(A;A)
Alt	rs386134171(A;A)
Reference	Rs386134171(G;G)
Significance	Pathogenic
Disease	Spinocerebellar ataxia 14
Variation	info
Gene	PRKCG
CLNDBN	Spinocerebellar ataxia 14
Reversed	0
HGVS	NC_000019.9:g.54401351G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034956.1,

[PMID 16193476] New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.