Have questions? Visit https://www.reddit.com/r/SNPedia

rs431905498

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs431905498(AA;AA)
Make rs431905498(AA;GT)
ReferenceGRCh38 38.1/142
Chromosome11
Position103116572
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs431905498
ebirs431905498
HLIrs431905498
Exacrs431905498
Varsomers431905498
Maprs431905498
PheGenIrs431905498
hapmaprs431905498
1000 genomesrs431905498
hgdprs431905498
ensemblrs431905498
gopubmedrs431905498
geneviewrs431905498
scholarrs431905498
googlers431905498
pharmgkbrs431905498
gwascentralrs431905498
openSNPrs431905498
23andMers431905498
23andMe allrs431905498
SNP Nexus

SNPshotrs431905498
SNPdbers431905498
MSV3drs431905498
GWAS Ctlgrs431905498
Max Magnitude0
ClinVar
Risk rs431905498(AA;AA)
Alt rs431905498(AA;AA)
Reference rs431905498(GT;GT)
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.102987301_102987302delGTinsAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006882.3,