rs771111145

Orientation

plus

Stabilized

plus

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

Make rs771111145(A;A)

Make rs771111145(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

87988514

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs771111145
dbSNP (classic)	rs771111145
ClinGen	rs771111145
ebi	rs771111145
HLI	rs771111145
Exac	rs771111145
Gnomad	rs771111145
Varsome	rs771111145
LitVar	rs771111145
Map	rs771111145
PheGenI	rs771111145
Biobank	rs771111145
1000 genomes	rs771111145
hgdp	rs771111145
ensembl	rs771111145
geneview	rs771111145
scholar	rs771111145
google	rs771111145
pharmgkb	rs771111145
gwascentral	rs771111145
openSNP	rs771111145
23andMe	rs771111145
SNPshot	rs771111145
SNPdbe	rs771111145
MSV3d	rs771111145
GWAS Ctlg	rs771111145

Max Magnitude

0

ClinVar
Risk	rs771111145(A;A)
Alt	rs771111145(A;A)
Reference	Rs771111145(G;G)
Significance	Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	0
HGVS	NC_000014.8:g.88454858G>A
CLNSRC
CLNACC	RCV000175531.1,