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rs137852900

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852900(C;C)
Make rs137852900(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101770185
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs137852900
ebirs137852900
HLIrs137852900
Exacrs137852900
Varsomers137852900
Maprs137852900
PheGenIrs137852900
hapmaprs137852900
1000 genomesrs137852900
hgdprs137852900
ensemblrs137852900
gopubmedrs137852900
geneviewrs137852900
scholarrs137852900
googlers137852900
pharmgkbrs137852900
gwascentralrs137852900
openSNPrs137852900
23andMers137852900
23andMe allrs137852900
SNP Nexus

SNPshotrs137852900
SNPdbers137852900
MSV3drs137852900
GWAS Ctlgrs137852900
Max Magnitude0
OMIM607840
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137852900(C;C)
Alt rs137852900(C;C)
Reference rs137852900(T;T)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy I cell disease
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy I cell disease
Reversed 1
HGVS NC_000012.11:g.102163963A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002904.3, RCV000002905.3,


[PMID 19197337] Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.