rs375867319

Orientation

plus

Stabilized

plus

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

Make rs375867319(A;G)

Make rs375867319(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

14

Position

87945682

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs375867319
dbSNP (classic)	rs375867319
ClinGen	rs375867319
ebi	rs375867319
HLI	rs375867319
Exac	rs375867319
Gnomad	rs375867319
Varsome	rs375867319
LitVar	rs375867319
Map	rs375867319
PheGenI	rs375867319
Biobank	rs375867319
1000 genomes	rs375867319
hgdp	rs375867319
ensembl	rs375867319
geneview	rs375867319
scholar	rs375867319
google	rs375867319
pharmgkb	rs375867319
gwascentral	rs375867319
openSNP	rs375867319
23andMe	rs375867319
SNPshot	rs375867319
SNPdbe	rs375867319
MSV3d	rs375867319
GWAS Ctlg	rs375867319

Max Magnitude

0

ClinVar
Risk	rs375867319(G;G)
Alt	rs375867319(G;G)
Reference	Rs375867319(A;A)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	0
HGVS	NC_000014.8:g.88412026A>G
CLNSRC
CLNACC	RCV000324608.1,