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rs587777853

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777853(-;-)
Make rs587777853(-;G)
Make rs587777853(G;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position7542058
GenePNPLA6
is asnp
is mentioned by
dbSNPrs587777853
ebirs587777853
HLIrs587777853
Exacrs587777853
Varsomers587777853
Maprs587777853
PheGenIrs587777853
hapmaprs587777853
1000 genomesrs587777853
hgdprs587777853
ensemblrs587777853
gopubmedrs587777853
geneviewrs587777853
scholarrs587777853
googlers587777853
pharmgkbrs587777853
gwascentralrs587777853
openSNPrs587777853
23andMers587777853
23andMe allrs587777853
SNP Nexus

SNPshotrs587777853
SNPdbers587777853
MSV3drs587777853
GWAS Ctlgrs587777853
Max Magnitude0
ClinVar
Risk rs587777853(G;G)
Alt rs587777853(G;G)
Reference rs587777853(;)
Significance Pathogenic
Disease Boucher Neuhauser syndrome
Variation info
Gene PNPLA6
CLNDBN Boucher Neuhauser syndrome
Reversed 0
HGVS NC_000019.9:g.7606944dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000144694.3,