rs202131052

Orientation

plus

Stabilized

plus

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

Make rs202131052(A;A)

Make rs202131052(A;T)

Reference

GRCh38.p7 38.3/149

Chromosome

14

Position

87976482

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs202131052
dbSNP (classic)	rs202131052
ClinGen	rs202131052
ebi	rs202131052
HLI	rs202131052
Exac	rs202131052
Gnomad	rs202131052
Varsome	rs202131052
LitVar	rs202131052
Map	rs202131052
PheGenI	rs202131052
Biobank	rs202131052
1000 genomes	rs202131052
hgdp	rs202131052
ensembl	rs202131052
geneview	rs202131052
scholar	rs202131052
google	rs202131052
pharmgkb	rs202131052
gwascentral	rs202131052
openSNP	rs202131052
23andMe	rs202131052
SNPshot	rs202131052
SNPdbe	rs202131052
MSV3d	rs202131052
GWAS Ctlg	rs202131052

Max Magnitude

0

ClinVar
Risk	rs202131052(A;A)
Alt	rs202131052(A;A)
Reference	Rs202131052(T;T)
Significance	Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	0
HGVS	NC_000014.8:g.88442826T>A
CLNSRC
CLNACC	RCV000408648.1,