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rs606231249

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231249(C;C)
Make rs606231249(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position7551361
GenePNPLA6
is asnp
is mentioned by
dbSNPrs606231249
ebirs606231249
HLIrs606231249
Exacrs606231249
Varsomers606231249
Maprs606231249
PheGenIrs606231249
hapmaprs606231249
1000 genomesrs606231249
hgdprs606231249
ensemblrs606231249
gopubmedrs606231249
geneviewrs606231249
scholarrs606231249
googlers606231249
pharmgkbrs606231249
gwascentralrs606231249
openSNPrs606231249
23andMers606231249
23andMe allrs606231249
SNP Nexus

SNPshotrs606231249
SNPdbers606231249
MSV3drs606231249
GWAS Ctlgrs606231249
Max Magnitude0
ClinVar
Risk rs606231249(C;C)
Alt rs606231249(C;C)
Reference rs606231249(G;G)
Significance Pathogenic
Disease Boucher Neuhauser syndrome
Variation info
Gene PNPLA6
CLNDBN Boucher Neuhauser syndrome
Reversed 0
HGVS NC_000019.9:g.7616247G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000087298.4,