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rs281864978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864978(-;-)
Make rs281864978(-;A)
Make rs281864978(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101768059
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864978
ebirs281864978
HLIrs281864978
Exacrs281864978
Varsomers281864978
Maprs281864978
PheGenIrs281864978
hapmaprs281864978
1000 genomesrs281864978
hgdprs281864978
ensemblrs281864978
gopubmedrs281864978
geneviewrs281864978
scholarrs281864978
googlers281864978
pharmgkbrs281864978
gwascentralrs281864978
openSNPrs281864978
23andMers281864978
23andMe allrs281864978
SNP Nexus

SNPshotrs281864978
SNPdbers281864978
MSV3drs281864978
GWAS Ctlgrs281864978
Max Magnitude0
ClinVar
Risk rs281864978(A;A)
Alt rs281864978(A;A)
Reference rs281864978(;)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102161838dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032298.1,


[PMID 19938078] Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.