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rs431905507

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs431905507(-;-)
Make rs431905507(-;A)
ReferenceGRCh38 38.1/142
Chromosome11
Position103209955
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs431905507
ebirs431905507
HLIrs431905507
Exacrs431905507
Varsomers431905507
Maprs431905507
PheGenIrs431905507
hapmaprs431905507
1000 genomesrs431905507
hgdprs431905507
ensemblrs431905507
gopubmedrs431905507
geneviewrs431905507
scholarrs431905507
googlers431905507
pharmgkbrs431905507
gwascentralrs431905507
openSNPrs431905507
23andMers431905507
23andMe allrs431905507
SNP Nexus

SNPshotrs431905507
SNPdbers431905507
MSV3drs431905507
GWAS Ctlgrs431905507
Max Magnitude0
ClinVar
Risk rs431905507(;)
Alt rs431905507(;)
Reference rs431905507(A;A)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 3 with or without polydactyly
Variation info
Gene DYNC2H1
CLNDBN Short-rib thoracic dysplasia 3 with or without polydactyly
Reversed 0
HGVS NC_000011.9:g.103080684delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000033161.4,