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rs281865030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865030(-;-)
Make rs281865030(-;A)
Make rs281865030(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764257
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865030
ebirs281865030
HLIrs281865030
Exacrs281865030
Varsomers281865030
Maprs281865030
PheGenIrs281865030
hapmaprs281865030
1000 genomesrs281865030
hgdprs281865030
ensemblrs281865030
gopubmedrs281865030
geneviewrs281865030
scholarrs281865030
googlers281865030
pharmgkbrs281865030
gwascentralrs281865030
openSNPrs281865030
23andMers281865030
23andMe allrs281865030
SNP Nexus

SNPshotrs281865030
SNPdbers281865030
MSV3drs281865030
GWAS Ctlgrs281865030
Max Magnitude0
ClinVar
Risk rs281865030(A;A)
Alt rs281865030(A;A)
Reference rs281865030(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158036dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000031975.2,


[PMID 17964840] An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II.