Have questions? Visit https://www.reddit.com/r/SNPedia

rs122460155

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122460155(A;A)
Make rs122460155(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position2935127
GeneARSE
is asnp
is mentioned by
dbSNPrs122460155
ebirs122460155
HLIrs122460155
Exacrs122460155
Varsomers122460155
Maprs122460155
PheGenIrs122460155
hapmaprs122460155
1000 genomesrs122460155
hgdprs122460155
ensemblrs122460155
gopubmedrs122460155
geneviewrs122460155
scholarrs122460155
googlers122460155
pharmgkbrs122460155
gwascentralrs122460155
openSNPrs122460155
23andMers122460155
23andMe allrs122460155
SNP Nexus

SNPshotrs122460155
SNPdbers122460155
MSV3drs122460155
GWAS Ctlgrs122460155
Max Magnitude0
OMIM300180
Desc
Variant0006
Relatedalso
ClinVar
Risk rs122460155(A;A)
Alt rs122460155(A;A)
Reference rs122460155(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.2853168C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012283.11,