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rs122460153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122460153(C;C)
Make rs122460153(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position2953241
GeneARSE
is asnp
is mentioned by
dbSNPrs122460153
ebirs122460153
HLIrs122460153
Exacrs122460153
Varsomers122460153
Maprs122460153
PheGenIrs122460153
hapmaprs122460153
1000 genomesrs122460153
hgdprs122460153
ensemblrs122460153
gopubmedrs122460153
geneviewrs122460153
scholarrs122460153
googlers122460153
pharmgkbrs122460153
gwascentralrs122460153
openSNPrs122460153
23andMers122460153
23andMe allrs122460153
SNP Nexus

SNPshotrs122460153
SNPdbers122460153
MSV3drs122460153
GWAS Ctlgrs122460153
Max Magnitude0
OMIM300180
Desc
Variant0003
Relatedalso
ClinVar
Risk rs122460153(C;C)
Alt rs122460153(C;C)
Reference rs122460153(G;G)
Significance Pathogenic
Disease Chondrodysplasia punctata 1
Variation info
Gene ARSE
CLNDBN Chondrodysplasia punctata 1, X-linked recessive
Reversed 1
HGVS NC_000023.10:g.2871282C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012280.25,