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rs387906722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906722(A;A)
Make rs387906722(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position64192858
GeneAMER1
is asnp
is mentioned by
dbSNPrs387906722
dbSNP (classic)rs387906722
ClinGenrs387906722
ebirs387906722
HLIrs387906722
Exacrs387906722
Gnomadrs387906722
Varsomers387906722
LitVarrs387906722
Maprs387906722
PheGenIrs387906722
Biobankrs387906722
1000 genomesrs387906722
hgdprs387906722
ensemblrs387906722
geneviewrs387906722
scholarrs387906722
googlers387906722
pharmgkbrs387906722
gwascentralrs387906722
openSNPrs387906722
23andMers387906722
SNPshotrs387906722
SNPdbers387906722
MSV3drs387906722
GWAS Ctlgrs387906722
Max Magnitude0
ClinVar
Risk rs387906722(A;A)
Alt rs387906722(A;A)
Reference Rs387906722(T;T)
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.63412738A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022871.11,