rs11623

Orientation

minus

Stabilized

minus

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

Make rs11623(G;T)

Make rs11623(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

87992996

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs11623
dbSNP (classic)	rs11623
ClinGen	rs11623
ebi	rs11623
HLI	rs11623
Exac	rs11623
Gnomad	rs11623
Varsome	rs11623
LitVar	rs11623
Map	rs11623
PheGenI	rs11623
Biobank	rs11623
1000 genomes	rs11623
hgdp	rs11623
ensembl	rs11623
geneview	rs11623
scholar	rs11623
google	rs11623
pharmgkb	rs11623
gwascentral	rs11623
openSNP	rs11623
23andMe	rs11623
SNPshot	rs11623
SNPdbe	rs11623
MSV3d	rs11623
GWAS Ctlg	rs11623

Max Magnitude

0

ClinVar
Risk	rs11623(A;A) rs11623(C;C)
Alt	rs11623(A;A) rs11623(C;C)
Reference	Rs11623(G;G)
Significance	Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88459340C>T
CLNSRC
CLNACC	RCV000173074.1,