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rs387907101

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907101(A;A)
Make rs387907101(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position56980056
GeneIMPAD1
is asnp
is mentioned by
dbSNPrs387907101
ebirs387907101
HLIrs387907101
Exacrs387907101
Varsomers387907101
Maprs387907101
PheGenIrs387907101
hapmaprs387907101
1000 genomesrs387907101
hgdprs387907101
ensemblrs387907101
gopubmedrs387907101
geneviewrs387907101
scholarrs387907101
googlers387907101
pharmgkbrs387907101
gwascentralrs387907101
openSNPrs387907101
23andMers387907101
23andMe allrs387907101
SNP Nexus

SNPshotrs387907101
SNPdbers387907101
MSV3drs387907101
GWAS Ctlgrs387907101
Max Magnitude0
ClinVar
Risk rs387907101(A;A)
Alt rs387907101(A;A)
Reference rs387907101(G;G)
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.57892615C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024085.2,