rs1057517185

Orientation

minus

Stabilized

minus

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

Make rs1057517185(-;GG)

Make rs1057517185(GG;GG)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87984507

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057517185
dbSNP (classic)	rs1057517185
ClinGen	rs1057517185
ebi	rs1057517185
HLI	rs1057517185
Exac	rs1057517185
Gnomad	rs1057517185
Varsome	rs1057517185
LitVar	rs1057517185
Map	rs1057517185
PheGenI	rs1057517185
Biobank	rs1057517185
1000 genomes	rs1057517185
hgdp	rs1057517185
ensembl	rs1057517185
geneview	rs1057517185
scholar	rs1057517185
google	rs1057517185
pharmgkb	rs1057517185
gwascentral	rs1057517185
openSNP	rs1057517185
23andMe	rs1057517185
SNPshot	rs1057517185
SNPdbe	rs1057517185
MSV3d	rs1057517185
GWAS Ctlg	rs1057517185

Max Magnitude

0

ClinVar
Risk	rs1057517185(GG;GG)
Alt	rs1057517185(GG;GG)
Reference	Rs1057517185(-;-)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88450852_88450853dupCC
CLNSRC
CLNACC	RCV000411607.1,