rs587777111

Orientation

plus

Stabilized

plus

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

Make rs587777111(A;A)

Make rs587777111(A;G)

Reference

GRCh38 38.1/142

Chromosome

3

Position

184354556

Gene

CLCN2

is a	snp
is	mentioned by
dbSNP	rs587777111
dbSNP (classic)	rs587777111
ClinGen	rs587777111
ebi	rs587777111
HLI	rs587777111
Exac	rs587777111
Gnomad	rs587777111
Varsome	rs587777111
LitVar	rs587777111
Map	rs587777111
PheGenI	rs587777111
Biobank	rs587777111
1000 genomes	rs587777111
hgdp	rs587777111
ensembl	rs587777111
geneview	rs587777111
scholar	rs587777111
google	rs587777111
pharmgkb	rs587777111
gwascentral	rs587777111
openSNP	rs587777111
23andMe	rs587777111
SNPshot	rs587777111
SNPdbe	rs587777111
MSV3d	rs587777111
GWAS Ctlg	rs587777111

Max Magnitude

0

ClinVar
Risk	rs587777111(A;A) rs587777111(T;T)
Alt	rs587777111(A;A) rs587777111(T;T)
Reference	Rs587777111(G;G)
Significance	Pathogenic
Disease	Leukoencephalopathy with ataxia
Variation	info
Gene	CLCN2
CLNDBN	Leukoencephalopathy with ataxia
Reversed	0
HGVS	NC_000003.11:g.184072344G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000087031.4,