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rs587777183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777183(C;C)
Make rs587777183(C;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position7556526
GenePNPLA6
is asnp
is mentioned by
dbSNPrs587777183
ebirs587777183
HLIrs587777183
Exacrs587777183
Varsomers587777183
Maprs587777183
PheGenIrs587777183
hapmaprs587777183
1000 genomesrs587777183
hgdprs587777183
ensemblrs587777183
gopubmedrs587777183
geneviewrs587777183
scholarrs587777183
googlers587777183
pharmgkbrs587777183
gwascentralrs587777183
openSNPrs587777183
23andMers587777183
23andMe allrs587777183
SNP Nexus

SNPshotrs587777183
SNPdbers587777183
MSV3drs587777183
GWAS Ctlgrs587777183
Max Magnitude0
ClinVar
Risk rs587777183(C;C)
Alt rs587777183(C;C)
Reference rs587777183(T;T)
Significance Pathogenic
Disease Boucher Neuhauser syndrome
Variation info
Gene PNPLA6
CLNDBN Boucher Neuhauser syndrome
Reversed 0
HGVS NC_000019.9:g.7621412T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000087300.5,