rs1057517372

Orientation

minus

Stabilized

minus

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

Make rs1057517372(-;TAG)

Make rs1057517372(TAG;TAG)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87949910

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057517372
dbSNP (classic)	rs1057517372
ClinGen	rs1057517372
ebi	rs1057517372
HLI	rs1057517372
Exac	rs1057517372
Gnomad	rs1057517372
Varsome	rs1057517372
LitVar	rs1057517372
Map	rs1057517372
PheGenI	rs1057517372
Biobank	rs1057517372
1000 genomes	rs1057517372
hgdp	rs1057517372
ensembl	rs1057517372
geneview	rs1057517372
scholar	rs1057517372
google	rs1057517372
pharmgkb	rs1057517372
gwascentral	rs1057517372
openSNP	rs1057517372
23andMe	rs1057517372
SNPshot	rs1057517372
SNPdbe	rs1057517372
MSV3d	rs1057517372
GWAS Ctlg	rs1057517372

Max Magnitude

0

ClinVar
Risk	rs1057517372(TAG;TAG)
Alt	rs1057517372(TAG;TAG)
Reference	Rs1057517372(-;-)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88416254_88416255insCTA
CLNSRC
CLNACC	RCV000410806.1,