rs193302860

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

1363030

Gene	GNPTG, UNKL

is a	snp
is	mentioned by
dbSNP	rs193302860
dbSNP (classic)	rs193302860
ClinGen	rs193302860
ebi	rs193302860
HLI	rs193302860
Exac	rs193302860
Gnomad	rs193302860
Varsome	rs193302860
LitVar	rs193302860
Map	rs193302860
PheGenI	rs193302860
Biobank	rs193302860
1000 genomes	rs193302860
hgdp	rs193302860
ensembl	rs193302860
geneview	rs193302860
scholar	rs193302860
google	rs193302860
pharmgkb	rs193302860
gwascentral	rs193302860
openSNP	rs193302860
23andMe	rs193302860
SNPshot	rs193302860
SNPdbe	rs193302860
MSV3d	rs193302860
GWAS Ctlg	rs193302860

Max Magnitude

6.1

ClinVar
Risk	Rs193302860(T;T)
Alt	Rs193302860(T;T)
Reference	Rs193302860(C;C)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG UNKL
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1413031C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020927.1,