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rs587777182

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777182(A;A)
Make rs587777182(A;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position7557185
GenePNPLA6
is asnp
is mentioned by
dbSNPrs587777182
ebirs587777182
HLIrs587777182
Exacrs587777182
Varsomers587777182
Maprs587777182
PheGenIrs587777182
hapmaprs587777182
1000 genomesrs587777182
hgdprs587777182
ensemblrs587777182
gopubmedrs587777182
geneviewrs587777182
scholarrs587777182
googlers587777182
pharmgkbrs587777182
gwascentralrs587777182
openSNPrs587777182
23andMers587777182
23andMe allrs587777182
SNP Nexus

SNPshotrs587777182
SNPdbers587777182
MSV3drs587777182
GWAS Ctlgrs587777182
Max Magnitude0
ClinVar
Risk rs587777182(A;A)
Alt rs587777182(A;A)
Reference rs587777182(G;G)
Significance Pathogenic
Disease Boucher Neuhauser syndrome
Variation info
Gene PNPLA6
CLNDBN Boucher Neuhauser syndrome
Reversed 0
HGVS NC_000019.9:g.7622071G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087299.4,