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rs122460152

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122460152(A;A)
Make rs122460152(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position2953224
GeneARSE
is asnp
is mentioned by
dbSNPrs122460152
ebirs122460152
HLIrs122460152
Exacrs122460152
Varsomers122460152
Maprs122460152
PheGenIrs122460152
hapmaprs122460152
1000 genomesrs122460152
hgdprs122460152
ensemblrs122460152
gopubmedrs122460152
geneviewrs122460152
scholarrs122460152
googlers122460152
pharmgkbrs122460152
gwascentralrs122460152
openSNPrs122460152
23andMers122460152
23andMe allrs122460152
SNP Nexus

SNPshotrs122460152
SNPdbers122460152
MSV3drs122460152
GWAS Ctlgrs122460152
Max Magnitude0
OMIM300180
Desc
Variant0002
Relatedalso
ClinVar
Risk rs122460152(A;A)
Alt rs122460152(A;A)
Reference rs122460152(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.2871265C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012279.25,