rs193302856

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

1362612

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs193302856
dbSNP (classic)	rs193302856
ClinGen	rs193302856
ebi	rs193302856
HLI	rs193302856
Exac	rs193302856
Gnomad	rs193302856
Varsome	rs193302856
LitVar	rs193302856
Map	rs193302856
PheGenI	rs193302856
Biobank	rs193302856
1000 genomes	rs193302856
hgdp	rs193302856
ensembl	rs193302856
geneview	rs193302856
scholar	rs193302856
google	rs193302856
pharmgkb	rs193302856
gwascentral	rs193302856
openSNP	rs193302856
23andMe	rs193302856
SNPshot	rs193302856
SNPdbe	rs193302856
MSV3d	rs193302856
GWAS Ctlg	rs193302856

Max Magnitude

6.1

ClinVar
Risk	Rs193302856(-;-)
Alt	Rs193302856(-;-)
Reference	Rs193302856(G;G)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1412613delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002929.3,