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rs387907103

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907103(C;T)
Make rs387907103(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position56978137
GeneIMPAD1
is asnp
is mentioned by
dbSNPrs387907103
ebirs387907103
HLIrs387907103
Exacrs387907103
Varsomers387907103
Maprs387907103
PheGenIrs387907103
hapmaprs387907103
1000 genomesrs387907103
hgdprs387907103
ensemblrs387907103
gopubmedrs387907103
geneviewrs387907103
scholarrs387907103
googlers387907103
pharmgkbrs387907103
gwascentralrs387907103
openSNPrs387907103
23andMers387907103
23andMe allrs387907103
SNP Nexus

SNPshotrs387907103
SNPdbers387907103
MSV3drs387907103
GWAS Ctlgrs387907103
Max Magnitude0
ClinVar
Risk rs387907103(T;T)
Alt rs387907103(T;T)
Reference rs387907103(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.57890696G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024087.3,