rs1057516673

Orientation

minus

Stabilized

minus

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

Make rs1057516673(A;T)

Make rs1057516673(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87986516

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057516673
dbSNP (classic)	rs1057516673
ClinGen	rs1057516673
ebi	rs1057516673
HLI	rs1057516673
Exac	rs1057516673
Gnomad	rs1057516673
Varsome	rs1057516673
LitVar	rs1057516673
Map	rs1057516673
PheGenI	rs1057516673
Biobank	rs1057516673
1000 genomes	rs1057516673
hgdp	rs1057516673
ensembl	rs1057516673
geneview	rs1057516673
scholar	rs1057516673
google	rs1057516673
pharmgkb	rs1057516673
gwascentral	rs1057516673
openSNP	rs1057516673
23andMe	rs1057516673
SNPshot	rs1057516673
SNPdbe	rs1057516673
MSV3d	rs1057516673
GWAS Ctlg	rs1057516673

Max Magnitude

0

ClinVar
Risk	rs1057516673(G;G) rs1057516673(T;T)
Alt	rs1057516673(G;G) rs1057516673(T;T)
Reference	Rs1057516673(A;A)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88452860T>A
CLNSRC
CLNACC	RCV000411282.1,