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rs145606134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs145606134(A;G)
Make rs145606134(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position102937494
GeneRAB40AL
is asnp
is mentioned by
dbSNPrs145606134
dbSNP (classic)rs145606134
ClinGenrs145606134
ebirs145606134
HLIrs145606134
Exacrs145606134
Gnomadrs145606134
Varsomers145606134
LitVarrs145606134
Maprs145606134
PheGenIrs145606134
Biobankrs145606134
1000 genomesrs145606134
hgdprs145606134
ensemblrs145606134
geneviewrs145606134
scholarrs145606134
googlers145606134
pharmgkbrs145606134
gwascentralrs145606134
openSNPrs145606134
23andMers145606134
SNPshotrs145606134
SNPdbers145606134
MSV3drs145606134
GWAS Ctlgrs145606134
Max Magnitude0
ClinVar
Risk rs145606134(G;G)
Alt rs145606134(G;G)
Reference Rs145606134(A;A)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene RAB40AL
CLNDBN Mental retardation, X-linked, syndromic, martin-probst type
Reversed 0
HGVS NC_000023.10:g.102192422A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030692.3,