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rs137854441

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854441(C;T)
Make rs137854441(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position143728053
GeneFAM83H
is asnp
is mentioned by
dbSNPrs137854441
ebirs137854441
HLIrs137854441
Exacrs137854441
Varsomers137854441
Maprs137854441
PheGenIrs137854441
hapmaprs137854441
1000 genomesrs137854441
hgdprs137854441
ensemblrs137854441
gopubmedrs137854441
geneviewrs137854441
scholarrs137854441
googlers137854441
pharmgkbrs137854441
gwascentralrs137854441
openSNPrs137854441
23andMers137854441
23andMe allrs137854441
SNP Nexus

SNPshotrs137854441
SNPdbers137854441
MSV3drs137854441
GWAS Ctlgrs137854441
Max Magnitude0
OMIM611927
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137854441(T;T)
Alt rs137854441(T;T)
Reference rs137854441(C;C)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene FAM83H
CLNDBN Amelogenesis imperfecta, hypocalcification type
Reversed 1
HGVS NC_000008.10:g.144810223G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000812.2,