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rs137854436

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854436(C;T)
Make rs137854436(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position143728269
GeneFAM83H
is asnp
is mentioned by
dbSNPrs137854436
ebirs137854436
HLIrs137854436
Exacrs137854436
Varsomers137854436
Maprs137854436
PheGenIrs137854436
hapmaprs137854436
1000 genomesrs137854436
hgdprs137854436
ensemblrs137854436
gopubmedrs137854436
geneviewrs137854436
scholarrs137854436
googlers137854436
pharmgkbrs137854436
gwascentralrs137854436
openSNPrs137854436
23andMers137854436
23andMe allrs137854436
SNP Nexus

SNPshotrs137854436
SNPdbers137854436
MSV3drs137854436
GWAS Ctlgrs137854436
Max Magnitude0
OMIM611927
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137854436(T;T)
Alt rs137854436(T;T)
Reference rs137854436(C;C)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene FAM83H
CLNDBN Amelogenesis imperfecta, hypocalcification type
Reversed 1
HGVS NC_000008.10:g.144810439G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000807.3,