rs1057518779

Orientation

minus

Stabilized

minus

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

Make rs1057518779(C;T)

Make rs1057518779(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

13371745

Gene

CACNA1A

is a	snp
is	mentioned by
dbSNP	rs1057518779
dbSNP (classic)	rs1057518779
ClinGen	rs1057518779
ebi	rs1057518779
HLI	rs1057518779
Exac	rs1057518779
Gnomad	rs1057518779
Varsome	rs1057518779
LitVar	rs1057518779
Map	rs1057518779
PheGenI	rs1057518779
Biobank	rs1057518779
1000 genomes	rs1057518779
hgdp	rs1057518779
ensembl	rs1057518779
geneview	rs1057518779
scholar	rs1057518779
google	rs1057518779
pharmgkb	rs1057518779
gwascentral	rs1057518779
openSNP	rs1057518779
23andMe	rs1057518779
SNPshot	rs1057518779
SNPdbe	rs1057518779
MSV3d	rs1057518779
GWAS Ctlg	rs1057518779

Max Magnitude

0

ClinVar
Risk	rs1057518779(T;T)
Alt	rs1057518779(T;T)
Reference	Rs1057518779(C;C)
Significance	Probable-Pathogenic
Disease	Ataxia Dysarthria Intention tremor Mild global developmental delay Spastic paraparesis
Variation	info
Gene	CACNA1A
CLNDBN	Ataxia Dysarthria Intention tremor Mild global developmental delay Spastic paraparesis
Reversed	1
HGVS	NC_000019.9:g.13482559G>A
CLNSRC
CLNACC	RCV000415249.1,