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rs193302850

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GACGCCTGCCGTT;GACGCCTGCCGTT) 0 common in clinvar
(TGACGCCTGCCGT;TGACGCCTGCCGT) 0 common in clinvar
Make rs193302850(-;-)
Make rs193302850(-;GACGCCTGCCGTT)
ReferenceGRCh38 38.1/141
Chromosome16
Position1362099
GeneGNPTG
is asnp
is mentioned by
dbSNPrs193302850
ebirs193302850
HLIrs193302850
Exacrs193302850
Varsomers193302850
Maprs193302850
PheGenIrs193302850
hapmaprs193302850
1000 genomesrs193302850
hgdprs193302850
ensemblrs193302850
gopubmedrs193302850
geneviewrs193302850
scholarrs193302850
googlers193302850
pharmgkbrs193302850
gwascentralrs193302850
openSNPrs193302850
23andMers193302850
23andMe allrs193302850
SNP Nexus

SNPshotrs193302850
SNPdbers193302850
MSV3drs193302850
GWAS Ctlgrs193302850
Max Magnitude0
ClinVar
Risk rs193302850(;)
Alt rs193302850(;)
Reference rs193302850(TGACGCCTGCCGT;TGACGCCTGCCGT)
Significance Pathogenic
Disease Mucolipidosis III Gamma
Variation info
Gene GNPTG
CLNDBN Mucolipidosis III Gamma
Reversed 0
HGVS NC_000016.9:g.1412100_1412112delGACGCCTGCCGTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020919.1,