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rs724160003

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724160003(-;-)
Make rs724160003(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position56993262
GeneIMPAD1
is asnp
is mentioned by
dbSNPrs724160003
ebirs724160003
HLIrs724160003
Exacrs724160003
Varsomers724160003
Maprs724160003
PheGenIrs724160003
hapmaprs724160003
1000 genomesrs724160003
hgdprs724160003
ensemblrs724160003
gopubmedrs724160003
geneviewrs724160003
scholarrs724160003
googlers724160003
pharmgkbrs724160003
gwascentralrs724160003
openSNPrs724160003
23andMers724160003
23andMe allrs724160003
SNP Nexus

SNPshotrs724160003
SNPdbers724160003
MSV3drs724160003
GWAS Ctlgrs724160003
Max Magnitude0
ClinVar
Risk rs724160003(;)
Alt rs724160003(;)
Reference rs724160003(C;C)
Significance Pathogenic
Disease Chondrodysplasia with joint dislocations
Variation info
Gene IMPAD1
CLNDBN Chondrodysplasia with joint dislocations, GPAPP type
Reversed 1
HGVS NC_000008.10:g.57905821delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000149814.4,