Have questions? Visit https://www.reddit.com/r/SNPedia

rs281864961

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGGGG;AGGGG) 0 common in clinvar
Make rs281864961(-;-)
Make rs281864961(-;AGGGG)
ReferenceGRCh38 38.1/141
Chromosome12
Position101780564
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864961
ebirs281864961
HLIrs281864961
Exacrs281864961
Varsomers281864961
Maprs281864961
PheGenIrs281864961
hapmaprs281864961
1000 genomesrs281864961
hgdprs281864961
ensemblrs281864961
gopubmedrs281864961
geneviewrs281864961
scholarrs281864961
googlers281864961
pharmgkbrs281864961
gwascentralrs281864961
openSNPrs281864961
23andMers281864961
23andMe allrs281864961
SNP Nexus

SNPshotrs281864961
SNPdbers281864961
MSV3drs281864961
GWAS Ctlgrs281864961
Max Magnitude0
ClinVar
Risk rs281864961(;)
Alt rs281864961(;)
Reference rs281864961(AGGGG;AGGGG)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102174342_102174346delCCCCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032351.1,


[PMID 19617216OA-icon.png] Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.