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rs142422525

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs142422525(A;A)
Make rs142422525(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position7558948
GenePNPLA6
is asnp
is mentioned by
dbSNPrs142422525
ebirs142422525
HLIrs142422525
Exacrs142422525
Varsomers142422525
Maprs142422525
PheGenIrs142422525
hapmaprs142422525
1000 genomesrs142422525
hgdprs142422525
ensemblrs142422525
gopubmedrs142422525
geneviewrs142422525
scholarrs142422525
googlers142422525
pharmgkbrs142422525
gwascentralrs142422525
openSNPrs142422525
23andMers142422525
23andMe allrs142422525
SNP Nexus

SNPshotrs142422525
SNPdbers142422525
MSV3drs142422525
GWAS Ctlgrs142422525
Max Magnitude0
ClinVar
Risk rs142422525(A;A)
Alt rs142422525(A;A)
Reference rs142422525(G;G)
Significance Pathogenic
Disease Trichomegaly with mental retardation
Variation info
Gene PNPLA6
CLNDBN Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina
Reversed 0
HGVS NC_000019.9:g.7623834G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000162353.3,