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rs587777854

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777854(C;T)
Make rs587777854(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position7558861
GenePNPLA6
is asnp
is mentioned by
dbSNPrs587777854
ebirs587777854
HLIrs587777854
Exacrs587777854
Varsomers587777854
Maprs587777854
PheGenIrs587777854
hapmaprs587777854
1000 genomesrs587777854
hgdprs587777854
ensemblrs587777854
gopubmedrs587777854
geneviewrs587777854
scholarrs587777854
googlers587777854
pharmgkbrs587777854
gwascentralrs587777854
openSNPrs587777854
23andMers587777854
23andMe allrs587777854
SNP Nexus

SNPshotrs587777854
SNPdbers587777854
MSV3drs587777854
GWAS Ctlgrs587777854
Max Magnitude0
ClinVar
Risk rs587777854(T;T)
Alt rs587777854(T;T)
Reference rs587777854(C;C)
Significance Pathogenic
Disease Boucher Neuhauser syndrome
Variation info
Gene PNPLA6
CLNDBN Boucher Neuhauser syndrome
Reversed 0
HGVS NC_000019.9:g.7623747C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144695.3,