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rs587777181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777181(C;T)
Make rs587777181(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position7556502
GenePNPLA6
is asnp
is mentioned by
dbSNPrs587777181
ebirs587777181
HLIrs587777181
Exacrs587777181
Varsomers587777181
Maprs587777181
PheGenIrs587777181
hapmaprs587777181
1000 genomesrs587777181
hgdprs587777181
ensemblrs587777181
gopubmedrs587777181
geneviewrs587777181
scholarrs587777181
googlers587777181
pharmgkbrs587777181
gwascentralrs587777181
openSNPrs587777181
23andMers587777181
23andMe allrs587777181
SNP Nexus

SNPshotrs587777181
SNPdbers587777181
MSV3drs587777181
GWAS Ctlgrs587777181
Max Magnitude0
ClinVar
Risk rs587777181(T;T)
Alt rs587777181(T;T)
Reference rs587777181(C;C)
Significance Pathogenic
Disease Boucher Neuhauser syndrome
Variation info
Gene PNPLA6
CLNDBN Boucher Neuhauser syndrome
Reversed 0
HGVS NC_000019.9:g.7621388C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087297.4,