rs200960659

Orientation

plus

Stabilized

plus

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

Make rs200960659(A;A)

Make rs200960659(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87945637

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs200960659
dbSNP (classic)	rs200960659
ClinGen	rs200960659
ebi	rs200960659
HLI	rs200960659
Exac	rs200960659
Gnomad	rs200960659
Varsome	rs200960659
LitVar	rs200960659
Map	rs200960659
PheGenI	rs200960659
Biobank	rs200960659
1000 genomes	rs200960659
hgdp	rs200960659
ensembl	rs200960659
geneview	rs200960659
scholar	rs200960659
google	rs200960659
pharmgkb	rs200960659
gwascentral	rs200960659
openSNP	rs200960659
23andMe	rs200960659
SNPshot	rs200960659
SNPdbe	rs200960659
MSV3d	rs200960659
GWAS Ctlg	rs200960659

Max Magnitude

0

ClinVar
Risk	rs200960659(A;A)
Alt	rs200960659(A;A)
Reference	Rs200960659(G;G)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	0
HGVS	NC_000014.8:g.88411981G>A
CLNSRC
CLNACC	RCV000410159.1,