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rs137852561

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852561(C;C)
Make rs137852561(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position49191730
GeneSYP
is asnp
is mentioned by
dbSNPrs137852561
dbSNP (classic)rs137852561
ClinGenrs137852561
ebirs137852561
HLIrs137852561
Exacrs137852561
Gnomadrs137852561
Varsomers137852561
LitVarrs137852561
Maprs137852561
PheGenIrs137852561
Biobankrs137852561
1000 genomesrs137852561
hgdprs137852561
ensemblrs137852561
geneviewrs137852561
scholarrs137852561
googlers137852561
pharmgkbrs137852561
gwascentralrs137852561
openSNPrs137852561
23andMers137852561
SNPshotrs137852561
SNPdbers137852561
MSV3drs137852561
GWAS Ctlgrs137852561
Max Magnitude0
OMIM313475
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852561(A;A) rs137852561(C;C)
Alt rs137852561(A;A) rs137852561(C;C)
Reference Rs137852561(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SYP
CLNDBN Mental retardation, X-linked 96
Reversed 1
HGVS NC_000023.10:g.49048187C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010541.2,