rs11300320

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(D;D)	0	Miscall by Ancestry

Make rs11300320(-;-)

Make rs11300320(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87950752

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs11300320
dbSNP (classic)	rs11300320
ClinGen	rs11300320
ebi	rs11300320
HLI	rs11300320
Exac	rs11300320
Gnomad	rs11300320
Varsome	rs11300320
LitVar	rs11300320
Map	rs11300320
PheGenI	rs11300320
Biobank	rs11300320
1000 genomes	rs11300320
hgdp	rs11300320
ensembl	rs11300320
geneview	rs11300320
scholar	rs11300320
google	rs11300320
pharmgkb	rs11300320
gwascentral	rs11300320
openSNP	rs11300320
23andMe	rs11300320
SNPshot	rs11300320
SNPdbe	rs11300320
MSV3d	rs11300320
GWAS Ctlg	rs11300320

Max Magnitude

0

aka c.1162-4delT

ClinVar
Risk	rs11300320(-;-)
Alt	rs11300320(-;-)
Reference	Rs11300320(A;A)
Significance	Probable-Pathogenic
Disease	not specified Galactosylceramide beta-galactosidase deficiency Abnormality of brain morphology
Variation	info
Gene	GALC
CLNDBN	not specified Galactosylceramide beta-galactosidase deficiency Abnormality of brain morphology
Reversed	0
HGVS	NC_000014.8:g.88417096delA
CLNSRC
CLNACC	RCV000078190.4, RCV000292380.1, RCV000454160.1,