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rs137852217

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852217(C;T)
Make rs137852217(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position64192215
GeneFAM123B
is asnp
is mentioned by
dbSNPrs137852217
ebirs137852217
HLIrs137852217
Exacrs137852217
Varsomers137852217
Maprs137852217
PheGenIrs137852217
hapmaprs137852217
1000 genomesrs137852217
hgdprs137852217
ensemblrs137852217
gopubmedrs137852217
geneviewrs137852217
scholarrs137852217
googlers137852217
pharmgkbrs137852217
gwascentralrs137852217
openSNPrs137852217
23andMers137852217
23andMe allrs137852217
SNP Nexus

SNPshotrs137852217
SNPdbers137852217
MSV3drs137852217
GWAS Ctlgrs137852217
Max Magnitude0
OMIM300647
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852217(A,T;A,T)
Alt rs137852217(A,T;A,T)
Reference rs137852217(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.63412095G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011454.3,