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rs387907056

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907056(C;T)
Make rs387907056(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position143728095
GeneFAM83H
is asnp
is mentioned by
dbSNPrs387907056
ebirs387907056
HLIrs387907056
Exacrs387907056
Varsomers387907056
Maprs387907056
PheGenIrs387907056
hapmaprs387907056
1000 genomesrs387907056
hgdprs387907056
ensemblrs387907056
gopubmedrs387907056
geneviewrs387907056
scholarrs387907056
googlers387907056
pharmgkbrs387907056
gwascentralrs387907056
openSNPrs387907056
23andMers387907056
23andMe allrs387907056
SNP Nexus

SNPshotrs387907056
SNPdbers387907056
MSV3drs387907056
GWAS Ctlgrs387907056
Max Magnitude0
ClinVar
Risk rs387907056(T;T)
Alt rs387907056(T;T)
Reference rs387907056(C;C)
Significance Pathogenic
Disease Amelogenesis imperfecta
Variation info
Gene FAM83H
CLNDBN Amelogenesis imperfecta, hypocalcification type
Reversed 1
HGVS NC_000008.10:g.144810265G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023918.2,