rs397514478

Orientation

minus

Stabilized

minus

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

Make rs397514478(C;T)

Make rs397514478(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

42856341

Gene

RNF170

is a	snp
is	mentioned by
dbSNP	rs397514478
dbSNP (classic)	rs397514478
ClinGen	rs397514478
ebi	rs397514478
HLI	rs397514478
Exac	rs397514478
Gnomad	rs397514478
Varsome	rs397514478
LitVar	rs397514478
Map	rs397514478
PheGenI	rs397514478
Biobank	rs397514478
1000 genomes	rs397514478
hgdp	rs397514478
ensembl	rs397514478
geneview	rs397514478
scholar	rs397514478
google	rs397514478
pharmgkb	rs397514478
gwascentral	rs397514478
openSNP	rs397514478
23andMe	rs397514478
SNPshot	rs397514478
SNPdbe	rs397514478
MSV3d	rs397514478
GWAS Ctlg	rs397514478

Max Magnitude

0

ClinVar
Risk	rs397514478(T;T)
Alt	rs397514478(T;T)
Reference	Rs397514478(C;C)
Significance	Pathogenic
Disease	Ataxia
Variation	info
Gene	RNF170
CLNDBN	Ataxia, sensory, autosomal dominant
Reversed	1
HGVS	NC_000008.10:g.42711484G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024296.3,