rs421262

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(T;T)	0	common in clinvar

Make rs421262(C;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

87934869

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs421262
dbSNP (classic)	rs421262
ClinGen	rs421262
ebi	rs421262
HLI	rs421262
Exac	rs421262
Gnomad	rs421262
Varsome	rs421262
LitVar	rs421262
Map	rs421262
PheGenI	rs421262
Biobank	rs421262
1000 genomes	rs421262
hgdp	rs421262
ensembl	rs421262
geneview	rs421262
scholar	rs421262
google	rs421262
pharmgkb	rs421262
gwascentral	rs421262
openSNP	rs421262
23andMe	rs421262
SNPshot	rs421262
SNPdbe	rs421262
MSV3d	rs421262
GWAS Ctlg	rs421262

GMAF

0.06107

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs421262(A;A) Rs421262(C;C)
Alt	rs421262(A;A) Rs421262(C;C)
Reference	Rs421262(T;T)
Significance	Non-pathogenic
Disease	not specified Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	not specified Galactosylceramide beta-galactosidase deficiency
Reversed	0
HGVS	NC_000014.8:g.88401213T>C
CLNSRC	ClinVar Emory University
CLNACC	RCV000078197.6, RCV000290698.1,