rs193302859

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

1362641

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs193302859
dbSNP (classic)	rs193302859
ClinGen	rs193302859
ebi	rs193302859
HLI	rs193302859
Exac	rs193302859
Gnomad	rs193302859
Varsome	rs193302859
LitVar	rs193302859
Map	rs193302859
PheGenI	rs193302859
Biobank	rs193302859
1000 genomes	rs193302859
hgdp	rs193302859
ensembl	rs193302859
geneview	rs193302859
scholar	rs193302859
google	rs193302859
pharmgkb	rs193302859
gwascentral	rs193302859
openSNP	rs193302859
23andMe	rs193302859
SNPshot	rs193302859
SNPdbe	rs193302859
MSV3d	rs193302859
GWAS Ctlg	rs193302859

Max Magnitude

6.1

ClinVar
Risk	Rs193302859(-;-)
Alt	Rs193302859(-;-)
Reference	Rs193302859(GAGGATGCTGGCTACTTAAAGACCCCAG;GAGGATGCTGGCTACTTAAAGACCCCAG)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1412642_1412669del28
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002930.3,