rs80084721

Orientation

plus

Stabilized

plus

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

Make rs80084721(A;A)

Make rs80084721(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

75763032

Gene

GALK1

is a	snp
is	mentioned by
dbSNP	rs80084721
dbSNP (classic)	rs80084721
ClinGen	rs80084721
ebi	rs80084721
HLI	rs80084721
Exac	rs80084721
Gnomad	rs80084721
Varsome	rs80084721
LitVar	rs80084721
Map	rs80084721
PheGenI	rs80084721
Biobank	rs80084721
1000 genomes	rs80084721
hgdp	rs80084721
ensembl	rs80084721
geneview	rs80084721
scholar	rs80084721
google	rs80084721
pharmgkb	rs80084721
gwascentral	rs80084721
openSNP	rs80084721
23andMe	rs80084721
SNPshot	rs80084721
SNPdbe	rs80084721
MSV3d	rs80084721
GWAS Ctlg	rs80084721

GMAF

0.006428

Max Magnitude

0

OMIM	604313
Desc
Variant	0006
Related	also

ClinVar
Risk	rs80084721(A;A) rs80084721(T;T)
Alt	rs80084721(A;A) rs80084721(T;T)
Reference	Rs80084721(G;G)
Significance	Pathogenic
Disease	Deficiency of galactokinase
Variation	info
Gene	GALK1
CLNDBN	Deficiency of galactokinase
Reversed	0
HGVS	NC_000017.10:g.73759113G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005987.2,