rs1057516453

Orientation

minus

Stabilized

minus

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

Make rs1057516453(A;A)

Make rs1057516453(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87939926

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057516453
dbSNP (classic)	rs1057516453
ClinGen	rs1057516453
ebi	rs1057516453
HLI	rs1057516453
Exac	rs1057516453
Gnomad	rs1057516453
Varsome	rs1057516453
LitVar	rs1057516453
Map	rs1057516453
PheGenI	rs1057516453
Biobank	rs1057516453
1000 genomes	rs1057516453
hgdp	rs1057516453
ensembl	rs1057516453
geneview	rs1057516453
scholar	rs1057516453
google	rs1057516453
pharmgkb	rs1057516453
gwascentral	rs1057516453
openSNP	rs1057516453
23andMe	rs1057516453
SNPshot	rs1057516453
SNPdbe	rs1057516453
MSV3d	rs1057516453
GWAS Ctlg	rs1057516453

Max Magnitude

0

ClinVar
Risk	rs1057516453(A;A)
Alt	rs1057516453(A;A)
Reference	Rs1057516453(T;T)
Significance	Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency not provided
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency not provided
Reversed	1
HGVS	NC_000014.8:g.88406270A>T
CLNSRC
CLNACC	RCV000411823.1, RCV000482303.1,