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rs606231167

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs606231167(-;AGCC)
Make rs606231167(AGCC;AGCC)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position7555731
GenePNPLA6
is asnp
is mentioned by
dbSNPrs606231167
dbSNP (classic)rs606231167
ClinGenrs606231167
ebirs606231167
HLIrs606231167
Exacrs606231167
Gnomadrs606231167
Varsomers606231167
LitVarrs606231167
Maprs606231167
PheGenIrs606231167
Biobankrs606231167
1000 genomesrs606231167
hgdprs606231167
ensemblrs606231167
geneviewrs606231167
scholarrs606231167
googlers606231167
pharmgkbrs606231167
gwascentralrs606231167
openSNPrs606231167
23andMers606231167
SNPshotrs606231167
SNPdbers606231167
MSV3drs606231167
GWAS Ctlgrs606231167
Max Magnitude0
ClinVar
Risk rs606231167(AGCC;AGCC) rs606231167(GCCA;GCCA)
Alt rs606231167(AGCC;AGCC) rs606231167(GCCA;GCCA)
Reference Rs606231167(-;-)
Significance Pathogenic
Disease Spastic paraplegia 39 Trichomegaly with mental retardation Laurence-Moon syndrome
Variation info
Gene PNPLA6
CLNDBN Spastic paraplegia 39 Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina Laurence-Moon syndrome
Reversed 0
HGVS NC_000019.9:g.7620614_7620617dupAGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000006986.4, RCV000162350.5, RCV000162351.5,