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rs431905499

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs431905499(G;T)
Make rs431905499(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position103170291
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs431905499
ebirs431905499
HLIrs431905499
Exacrs431905499
Varsomers431905499
Maprs431905499
PheGenIrs431905499
hapmaprs431905499
1000 genomesrs431905499
hgdprs431905499
ensemblrs431905499
gopubmedrs431905499
geneviewrs431905499
scholarrs431905499
googlers431905499
pharmgkbrs431905499
gwascentralrs431905499
openSNPrs431905499
23andMers431905499
23andMe allrs431905499
SNP Nexus

SNPshotrs431905499
SNPdbers431905499
MSV3drs431905499
GWAS Ctlgrs431905499
Max Magnitude0
ClinVar
Risk rs431905499(T;T)
Alt rs431905499(T;T)
Reference rs431905499(G;G)
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.103041020G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006883.3,