rs387906598

Orientation

minus

Stabilized

minus

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

Make rs387906598(A;A)

Make rs387906598(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

60222677

Gene

CA8

is a	snp
is	mentioned by
dbSNP	rs387906598
dbSNP (classic)	rs387906598
ClinGen	rs387906598
ebi	rs387906598
HLI	rs387906598
Exac	rs387906598
Gnomad	rs387906598
Varsome	rs387906598
LitVar	rs387906598
Map	rs387906598
PheGenI	rs387906598
Biobank	rs387906598
1000 genomes	rs387906598
hgdp	rs387906598
ensembl	rs387906598
geneview	rs387906598
scholar	rs387906598
google	rs387906598
pharmgkb	rs387906598
gwascentral	rs387906598
openSNP	rs387906598
23andMe	rs387906598
SNPshot	rs387906598
SNPdbe	rs387906598
MSV3d	rs387906598
GWAS Ctlg	rs387906598

Max Magnitude

0

ClinVar
Risk	rs387906598(A;A)
Alt	rs387906598(A;A)
Reference	Rs387906598(G;G)
Significance	Pathogenic
Disease	Cerebellar ataxia
Variation	info
Gene	CA8
CLNDBN	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
Reversed	1
HGVS	NC_000008.10:g.61135236C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022460.23,