rs756690487

Orientation

plus

Stabilized

plus

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

Make rs756690487(C;T)

Make rs756690487(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

87986600

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs756690487
dbSNP (classic)	rs756690487
ClinGen	rs756690487
ebi	rs756690487
HLI	rs756690487
Exac	rs756690487
Gnomad	rs756690487
Varsome	rs756690487
LitVar	rs756690487
Map	rs756690487
PheGenI	rs756690487
Biobank	rs756690487
1000 genomes	rs756690487
hgdp	rs756690487
ensembl	rs756690487
geneview	rs756690487
scholar	rs756690487
google	rs756690487
pharmgkb	rs756690487
gwascentral	rs756690487
openSNP	rs756690487
23andMe	rs756690487
SNPshot	rs756690487
SNPdbe	rs756690487
MSV3d	rs756690487
GWAS Ctlg	rs756690487

Max Magnitude

0

ClinVar
Risk	rs756690487(T;T)
Alt	rs756690487(T;T)
Reference	Rs756690487(C;C)
Significance	Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	0
HGVS	NC_000014.8:g.88452944C>T
CLNSRC
CLNACC	RCV000195270.1,