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rs145946864

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145946864(A;A)
Make rs145946864(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position2953236
GeneARSE
is asnp
is mentioned by
dbSNPrs145946864
ebirs145946864
HLIrs145946864
Exacrs145946864
Varsomers145946864
Maprs145946864
PheGenIrs145946864
hapmaprs145946864
1000 genomesrs145946864
hgdprs145946864
ensemblrs145946864
gopubmedrs145946864
geneviewrs145946864
scholarrs145946864
googlers145946864
pharmgkbrs145946864
gwascentralrs145946864
openSNPrs145946864
23andMers145946864
23andMe allrs145946864
SNP Nexus

SNPshotrs145946864
SNPdbers145946864
MSV3drs145946864
GWAS Ctlgrs145946864
Max Magnitude0
ClinVar
Risk rs145946864(A;A)
Alt rs145946864(A;A)
Reference rs145946864(G;G)
Significance Probable-Pathogenic
Disease Chondrodysplasia punctata 1
Variation info
Gene ARSE
CLNDBN Chondrodysplasia punctata 1, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.2871277G>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000145030.1,