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rs122460154

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122460154(C;C)
Make rs122460154(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position2949425
GeneARSE
is asnp
is mentioned by
dbSNPrs122460154
ebirs122460154
HLIrs122460154
Exacrs122460154
Varsomers122460154
Maprs122460154
PheGenIrs122460154
hapmaprs122460154
1000 genomesrs122460154
hgdprs122460154
ensemblrs122460154
gopubmedrs122460154
geneviewrs122460154
scholarrs122460154
googlers122460154
pharmgkbrs122460154
gwascentralrs122460154
openSNPrs122460154
23andMers122460154
23andMe allrs122460154
SNP Nexus

SNPshotrs122460154
SNPdbers122460154
MSV3drs122460154
GWAS Ctlgrs122460154
Max Magnitude0
OMIM300180
Desc
Variant0005
Relatedalso
ClinVar
Risk rs122460154(C;C)
Alt rs122460154(C;C)
Reference rs122460154(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.2867466C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012282.12,