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rs149390820

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149390820(C;T)
Make rs149390820(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position101765143
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs149390820
ebirs149390820
HLIrs149390820
Exacrs149390820
Varsomers149390820
Maprs149390820
PheGenIrs149390820
hapmaprs149390820
1000 genomesrs149390820
hgdprs149390820
ensemblrs149390820
gopubmedrs149390820
geneviewrs149390820
scholarrs149390820
googlers149390820
pharmgkbrs149390820
gwascentralrs149390820
openSNPrs149390820
23andMers149390820
23andMe allrs149390820
SNP Nexus

SNPshotrs149390820
SNPdbers149390820
MSV3drs149390820
GWAS Ctlgrs149390820
Max Magnitude0
ClinVar
Risk rs149390820(T;T)
Alt rs149390820(T;T)
Reference rs149390820(C;C)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 0
HGVS NC_000012.11:g.102158921C>T
CLNSRC ClinVar
CLNACC RCV000087103.1,