rs121908247

Orientation

minus

Stabilized

minus

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

Make rs121908247(A;A)

Make rs121908247(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

13235693

Gene

CACNA1A

is a	snp
is	mentioned by
dbSNP	rs121908247
dbSNP (classic)	rs121908247
ClinGen	rs121908247
ebi	rs121908247
HLI	rs121908247
Exac	rs121908247
Gnomad	rs121908247
Varsome	rs121908247
LitVar	rs121908247
Map	rs121908247
PheGenI	rs121908247
Biobank	rs121908247
1000 genomes	rs121908247
hgdp	rs121908247
ensembl	rs121908247
geneview	rs121908247
scholar	rs121908247
google	rs121908247
pharmgkb	rs121908247
gwascentral	rs121908247
openSNP	rs121908247
23andMe	rs121908247
SNPshot	rs121908247
SNPdbe	rs121908247
MSV3d	rs121908247
GWAS Ctlg	rs121908247

Max Magnitude

0

ClinVar
Risk	rs121908247(A;A)
Alt	rs121908247(A;A)
Reference	Rs121908247(G;G)
Significance	Pathogenic
Disease	Spinocerebellar ataxia 6 Chronic and progressive ataxia not provided Enlarged cisterna magna Global developmental delay
Variation	info
Gene	CACNA1A
CLNDBN	Spinocerebellar ataxia 6 Chronic and progressive ataxia not provided Enlarged cisterna magna Global developmental delay
Reversed	1
HGVS	NC_000019.9:g.13346507C>T
CLNSRC	UniProtKB (variants)
CLNACC	RCV000059302.1, RCV000157057.2, RCV000406556.1, RCV000415457.1,