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rs137852216

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852216(C;T)
Make rs137852216(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position64192230
GeneFAM123B
is asnp
is mentioned by
dbSNPrs137852216
ebirs137852216
HLIrs137852216
Exacrs137852216
Varsomers137852216
Maprs137852216
PheGenIrs137852216
hapmaprs137852216
1000 genomesrs137852216
hgdprs137852216
ensemblrs137852216
gopubmedrs137852216
geneviewrs137852216
scholarrs137852216
googlers137852216
pharmgkbrs137852216
gwascentralrs137852216
openSNPrs137852216
23andMers137852216
23andMe allrs137852216
SNP Nexus

SNPshotrs137852216
SNPdbers137852216
MSV3drs137852216
GWAS Ctlgrs137852216
Max Magnitude0
OMIM300647
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852216(T;T)
Alt rs137852216(T;T)
Reference rs137852216(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.63412110G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011453.3,