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rs796065023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs796065023(-;-)
Make rs796065023(-;TC)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position143728537
GeneFAM83H
is asnp
is mentioned by
dbSNPrs796065023
dbSNP (classic)rs796065023
ClinGenrs796065023
ebirs796065023
HLIrs796065023
Exacrs796065023
Gnomadrs796065023
Varsomers796065023
LitVarrs796065023
Maprs796065023
PheGenIrs796065023
Biobankrs796065023
1000 genomesrs796065023
hgdprs796065023
ensemblrs796065023
geneviewrs796065023
scholarrs796065023
googlers796065023
pharmgkbrs796065023
gwascentralrs796065023
openSNPrs796065023
23andMers796065023
SNPshotrs796065023
SNPdbers796065023
MSV3drs796065023
GWAS Ctlgrs796065023
Max Magnitude0
ClinVar
Risk rs796065023(-;-)
Alt rs796065023(-;-)
Reference Rs796065023(TC;TC)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene FAM83H
CLNDBN Amelogenesis imperfecta, hypocalcification type
Reversed 1
HGVS NC_000008.10:g.144810707_144810708delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000816.3,