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rs431905500

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs431905500(-;-)
Make rs431905500(-;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position103253351
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs431905500
ebirs431905500
HLIrs431905500
Exacrs431905500
Varsomers431905500
Maprs431905500
PheGenIrs431905500
hapmaprs431905500
1000 genomesrs431905500
hgdprs431905500
ensemblrs431905500
gopubmedrs431905500
geneviewrs431905500
scholarrs431905500
googlers431905500
pharmgkbrs431905500
gwascentralrs431905500
openSNPrs431905500
23andMers431905500
23andMe allrs431905500
SNP Nexus

SNPshotrs431905500
SNPdbers431905500
MSV3drs431905500
GWAS Ctlgrs431905500
Max Magnitude0
ClinVar
Risk rs431905500(;)
Alt rs431905500(;)
Reference rs431905500(T;T)
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.103124080delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006887.5,