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rs387907269

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907269(C;T)
Make rs387907269(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position64192476
GeneFAM123B
is asnp
is mentioned by
dbSNPrs387907269
ebirs387907269
HLIrs387907269
Exacrs387907269
Varsomers387907269
Maprs387907269
PheGenIrs387907269
hapmaprs387907269
1000 genomesrs387907269
hgdprs387907269
ensemblrs387907269
gopubmedrs387907269
geneviewrs387907269
scholarrs387907269
googlers387907269
pharmgkbrs387907269
gwascentralrs387907269
openSNPrs387907269
23andMers387907269
23andMe allrs387907269
SNP Nexus

SNPshotrs387907269
SNPdbers387907269
MSV3drs387907269
GWAS Ctlgrs387907269
Max Magnitude0
ClinVar
Risk rs387907269(T;T)
Alt rs387907269(T;T)
Reference rs387907269(C;C)
Significance Pathogenic
Disease Osteopathia striata with cranial sclerosis
Variation info
Gene AMER1
CLNDBN Osteopathia striata with cranial sclerosis
Reversed 1
HGVS NC_000023.10:g.63412356G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030706.4,