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rs786201037

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786201037(A;A)
Make rs786201037(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7556710
GenePNPLA6
is asnp
is mentioned by
dbSNPrs786201037
ebirs786201037
HLIrs786201037
Exacrs786201037
Varsomers786201037
Maprs786201037
PheGenIrs786201037
hapmaprs786201037
1000 genomesrs786201037
hgdprs786201037
ensemblrs786201037
gopubmedrs786201037
geneviewrs786201037
scholarrs786201037
googlers786201037
pharmgkbrs786201037
gwascentralrs786201037
openSNPrs786201037
23andMers786201037
23andMe allrs786201037
SNP Nexus

SNPshotrs786201037
SNPdbers786201037
MSV3drs786201037
GWAS Ctlgrs786201037
Max Magnitude0
ClinVar
Risk rs786201037(A;A)
Alt rs786201037(A;A)
Reference rs786201037(G;G)
Significance Pathogenic
Disease Trichomegaly with mental retardation
Variation info
Gene PNPLA6
CLNDBN Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina
Reversed 0
HGVS NC_000019.9:g.7621596G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000162354.3,