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rs121909495

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909495(C;T)
Make rs121909495(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position150503409
GeneMAMLD1
is asnp
is mentioned by
dbSNPrs121909495
dbSNP (classic)rs121909495
ClinGenrs121909495
ebirs121909495
HLIrs121909495
Exacrs121909495
Gnomadrs121909495
Varsomers121909495
LitVarrs121909495
Maprs121909495
PheGenIrs121909495
Biobankrs121909495
1000 genomesrs121909495
hgdprs121909495
ensemblrs121909495
geneviewrs121909495
scholarrs121909495
googlers121909495
pharmgkbrs121909495
gwascentralrs121909495
openSNPrs121909495
23andMers121909495
SNPshotrs121909495
SNPdbers121909495
MSV3drs121909495
GWAS Ctlgrs121909495
Max Magnitude0
OMIM300120
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909495(T;T)
Alt rs121909495(T;T)
Reference Rs121909495(C;C)
Significance Pathogenic
Disease Hypospadias 2
Variation info
Gene MAMLD1
CLNDBN Hypospadias 2, X-linked
Reversed 0
HGVS NC_000023.10:g.149671679C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012379.14,