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rs387907102

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907102(A;C)
Make rs387907102(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position56980038
GeneIMPAD1
is asnp
is mentioned by
dbSNPrs387907102
ebirs387907102
HLIrs387907102
Exacrs387907102
Varsomers387907102
Maprs387907102
PheGenIrs387907102
hapmaprs387907102
1000 genomesrs387907102
hgdprs387907102
ensemblrs387907102
gopubmedrs387907102
geneviewrs387907102
scholarrs387907102
googlers387907102
pharmgkbrs387907102
gwascentralrs387907102
openSNPrs387907102
23andMers387907102
23andMe allrs387907102
SNP Nexus

SNPshotrs387907102
SNPdbers387907102
MSV3drs387907102
GWAS Ctlgrs387907102
Max Magnitude0
ClinVar
Risk rs387907102(C;C)
Alt rs387907102(C;C)
Reference rs387907102(A;A)
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.57892597T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024086.3,