rs137852885

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	6.1	Mucolipidosis III gamma
(A;G)	3	Carrier of a mucolipidosis III gamma mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

16

Position

1361954

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs137852885
dbSNP (classic)	rs137852885
ClinGen	rs137852885
ebi	rs137852885
HLI	rs137852885
Exac	rs137852885
Gnomad	rs137852885
Varsome	rs137852885
LitVar	rs137852885
Map	rs137852885
PheGenI	rs137852885
Biobank	rs137852885
1000 genomes	rs137852885
hgdp	rs137852885
ensembl	rs137852885
geneview	rs137852885
scholar	rs137852885
google	rs137852885
pharmgkb	rs137852885
gwascentral	rs137852885
openSNP	rs137852885
23andMe	rs137852885
SNPshot	rs137852885
SNPdbe	rs137852885
MSV3d	rs137852885
GWAS Ctlg	rs137852885

Max Magnitude

6.1

c.316G>A (p.Gly106Ser)

23andMe name: i5005420

ClinVar
Risk	Rs137852885(A;A)
Alt	Rs137852885(A;A)
Reference	Rs137852885(G;G)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1411955G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002933.3,