Have questions? Visit https://www.reddit.com/r/SNPedia

rs796065022

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs796065022(-;-)
Make rs796065022(-;CC)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position143727588
GeneFAM83H
is asnp
is mentioned by
dbSNPrs796065022
dbSNP (classic)rs796065022
ClinGenrs796065022
ebirs796065022
HLIrs796065022
Exacrs796065022
Gnomadrs796065022
Varsomers796065022
LitVarrs796065022
Maprs796065022
PheGenIrs796065022
Biobankrs796065022
1000 genomesrs796065022
hgdprs796065022
ensemblrs796065022
geneviewrs796065022
scholarrs796065022
googlers796065022
pharmgkbrs796065022
gwascentralrs796065022
openSNPrs796065022
23andMers796065022
SNPshotrs796065022
SNPdbers796065022
MSV3drs796065022
GWAS Ctlgrs796065022
Max Magnitude0
ClinVar
Risk rs796065022(-;-)
Alt rs796065022(-;-)
Reference Rs796065022(CC;CC)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene FAM83H
CLNDBN Amelogenesis imperfecta, hypocalcification type
Reversed 1
HGVS NC_000008.10:g.144809758_144809759delGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000000815.3,