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rs144060383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs144060383(A;C)
Make rs144060383(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position101764563
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs144060383
ebirs144060383
HLIrs144060383
Exacrs144060383
Varsomers144060383
Maprs144060383
PheGenIrs144060383
hapmaprs144060383
1000 genomesrs144060383
hgdprs144060383
ensemblrs144060383
gopubmedrs144060383
geneviewrs144060383
scholarrs144060383
googlers144060383
pharmgkbrs144060383
gwascentralrs144060383
openSNPrs144060383
23andMers144060383
23andMe allrs144060383
SNP Nexus

SNPshotrs144060383
SNPdbers144060383
MSV3drs144060383
GWAS Ctlgrs144060383
Max Magnitude0
ClinVar
Risk rs144060383(C;C)
Alt rs144060383(C;C)
Reference rs144060383(A;A)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 0
HGVS NC_000012.11:g.102158341A>C
CLNSRC ClinVar
CLNACC RCV000087104.1,