rs1057517082

Orientation

minus

Stabilized

minus

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

Make rs1057517082(-;A)

Make rs1057517082(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87947790

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057517082
dbSNP (classic)	rs1057517082
ClinGen	rs1057517082
ebi	rs1057517082
HLI	rs1057517082
Exac	rs1057517082
Gnomad	rs1057517082
Varsome	rs1057517082
LitVar	rs1057517082
Map	rs1057517082
PheGenI	rs1057517082
Biobank	rs1057517082
1000 genomes	rs1057517082
hgdp	rs1057517082
ensembl	rs1057517082
geneview	rs1057517082
scholar	rs1057517082
google	rs1057517082
pharmgkb	rs1057517082
gwascentral	rs1057517082
openSNP	rs1057517082
23andMe	rs1057517082
SNPshot	rs1057517082
SNPdbe	rs1057517082
MSV3d	rs1057517082
GWAS Ctlg	rs1057517082

Max Magnitude

0

ClinVar
Risk	rs1057517082(A;A)
Alt	rs1057517082(A;A)
Reference	Rs1057517082(-;-)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88414135dupT
CLNSRC
CLNACC	RCV000409116.1,