rs121918515

Orientation

plus

Stabilized

plus

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

Make rs121918515(A;G)

Make rs121918515(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

53889732

Gene

PRKCG

is a	snp
is	mentioned by
dbSNP	rs121918515
dbSNP (classic)	rs121918515
ClinGen	rs121918515
ebi	rs121918515
HLI	rs121918515
Exac	rs121918515
Gnomad	rs121918515
Varsome	rs121918515
LitVar	rs121918515
Map	rs121918515
PheGenI	rs121918515
Biobank	rs121918515
1000 genomes	rs121918515
hgdp	rs121918515
ensembl	rs121918515
geneview	rs121918515
scholar	rs121918515
google	rs121918515
pharmgkb	rs121918515
gwascentral	rs121918515
openSNP	rs121918515
23andMe	rs121918515
SNPshot	rs121918515
SNPdbe	rs121918515
MSV3d	rs121918515
GWAS Ctlg	rs121918515

Max Magnitude

0

OMIM	176980
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918515(G;G)
Alt	rs121918515(G;G)
Reference	Rs121918515(A;A)
Significance	Pathogenic
Disease	Spinocerebellar ataxia 14
Variation	info
Gene	PRKCG
CLNDBN	Spinocerebellar ataxia 14
Reversed	0
HGVS	NC_000019.9:g.54392986A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014153.25,

[PMID 14676051] Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.