rs1057517336

Orientation

minus

Stabilized

minus

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

Make rs1057517336(A;A)

Make rs1057517336(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87984443

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057517336
dbSNP (classic)	rs1057517336
ClinGen	rs1057517336
ebi	rs1057517336
HLI	rs1057517336
Exac	rs1057517336
Gnomad	rs1057517336
Varsome	rs1057517336
LitVar	rs1057517336
Map	rs1057517336
PheGenI	rs1057517336
Biobank	rs1057517336
1000 genomes	rs1057517336
hgdp	rs1057517336
ensembl	rs1057517336
geneview	rs1057517336
scholar	rs1057517336
google	rs1057517336
pharmgkb	rs1057517336
gwascentral	rs1057517336
openSNP	rs1057517336
23andMe	rs1057517336
SNPshot	rs1057517336
SNPdbe	rs1057517336
MSV3d	rs1057517336
GWAS Ctlg	rs1057517336

Max Magnitude

0

ClinVar
Risk	rs1057517336(A;A)
Alt	rs1057517336(A;A)
Reference	Rs1057517336(G;G)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88450787C>T
CLNSRC
CLNACC	RCV000410261.1,