rs104894577

Orientation

minus

Stabilized

minus

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

Make rs104894577(G;T)

Make rs104894577(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

75764014

Gene

GALK1

is a	snp
is	mentioned by
dbSNP	rs104894577
dbSNP (classic)	rs104894577
ClinGen	rs104894577
ebi	rs104894577
HLI	rs104894577
Exac	rs104894577
Gnomad	rs104894577
Varsome	rs104894577
LitVar	rs104894577
Map	rs104894577
PheGenI	rs104894577
Biobank	rs104894577
1000 genomes	rs104894577
hgdp	rs104894577
ensembl	rs104894577
geneview	rs104894577
scholar	rs104894577
google	rs104894577
pharmgkb	rs104894577
gwascentral	rs104894577
openSNP	rs104894577
23andMe	rs104894577
SNPshot	rs104894577
SNPdbe	rs104894577
MSV3d	rs104894577
GWAS Ctlg	rs104894577

Max Magnitude

0

OMIM	604313
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894577(T;T)
Alt	rs104894577(T;T)
Reference	Rs104894577(G;G)
Significance	Pathogenic
Disease	Deficiency of galactokinase
Variation	info
Gene	GALK1
CLNDBN	Deficiency of galactokinase
Reversed	1
HGVS	NC_000017.10:g.73760095C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005983.2,