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rs122460151

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122460151(C;C)
Make rs122460151(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position2958423
GeneARSE
is asnp
is mentioned by
dbSNPrs122460151
ebirs122460151
HLIrs122460151
Exacrs122460151
Varsomers122460151
Maprs122460151
PheGenIrs122460151
hapmaprs122460151
1000 genomesrs122460151
hgdprs122460151
ensemblrs122460151
gopubmedrs122460151
geneviewrs122460151
scholarrs122460151
googlers122460151
pharmgkbrs122460151
gwascentralrs122460151
openSNPrs122460151
23andMers122460151
23andMe allrs122460151
SNP Nexus

SNPshotrs122460151
SNPdbers122460151
MSV3drs122460151
GWAS Ctlgrs122460151
Max Magnitude0
OMIM300180
Desc
Variant0001
Relatedalso
ClinVar
Risk rs122460151(C;C)
Alt rs122460151(C;C)
Reference rs122460151(G;G)
Significance Other
Disease Chondrodysplasia punctata 1
Variation info
Gene ARSE
CLNDBN Chondrodysplasia punctata 1, X-linked recessive
Reversed 1
HGVS NC_000023.10:g.2876464C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012278.28,