rs1057516270

Orientation

minus

Stabilized

minus

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

Make rs1057516270(A;A)

Make rs1057516270(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87963480

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057516270
dbSNP (classic)	rs1057516270
ClinGen	rs1057516270
ebi	rs1057516270
HLI	rs1057516270
Exac	rs1057516270
Gnomad	rs1057516270
Varsome	rs1057516270
LitVar	rs1057516270
Map	rs1057516270
PheGenI	rs1057516270
Biobank	rs1057516270
1000 genomes	rs1057516270
hgdp	rs1057516270
ensembl	rs1057516270
geneview	rs1057516270
scholar	rs1057516270
google	rs1057516270
pharmgkb	rs1057516270
gwascentral	rs1057516270
openSNP	rs1057516270
23andMe	rs1057516270
SNPshot	rs1057516270
SNPdbe	rs1057516270
MSV3d	rs1057516270
GWAS Ctlg	rs1057516270

Max Magnitude

0

ClinVar
Risk	rs1057516270(A;A)
Alt	rs1057516270(A;A)
Reference	Rs1057516270(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.88429824C>T
CLNSRC
CLNACC	RCV000411899.1,