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rs587777615

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777615(G;T)
Make rs587777615(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position7550003
GenePNPLA6
is asnp
is mentioned by
dbSNPrs587777615
ebirs587777615
HLIrs587777615
Exacrs587777615
Varsomers587777615
Maprs587777615
PheGenIrs587777615
hapmaprs587777615
1000 genomesrs587777615
hgdprs587777615
ensemblrs587777615
gopubmedrs587777615
geneviewrs587777615
scholarrs587777615
googlers587777615
pharmgkbrs587777615
gwascentralrs587777615
openSNPrs587777615
23andMers587777615
23andMe allrs587777615
SNP Nexus

SNPshotrs587777615
SNPdbers587777615
MSV3drs587777615
GWAS Ctlgrs587777615
Max Magnitude0
ClinVar
Risk rs587777615(T;T)
Alt rs587777615(T;T)
Reference rs587777615(G;G)
Significance Pathogenic
Disease Boucher Neuhauser syndrome
Variation info
Gene PNPLA6
CLNDBN Boucher Neuhauser syndrome
Reversed 0
HGVS NC_000019.9:g.7614889G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000133462.3,