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rs431905519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs431905519(-;-)
Make rs431905519(-;TG)
ReferenceGRCh38 38.1/142
Chromosome9
Position128633813
GeneSPTAN1, WDR34
is asnp
is mentioned by
dbSNPrs431905519
ebirs431905519
HLIrs431905519
Exacrs431905519
Varsomers431905519
Maprs431905519
PheGenIrs431905519
hapmaprs431905519
1000 genomesrs431905519
hgdprs431905519
ensemblrs431905519
gopubmedrs431905519
geneviewrs431905519
scholarrs431905519
googlers431905519
pharmgkbrs431905519
gwascentralrs431905519
openSNPrs431905519
23andMers431905519
23andMe allrs431905519
SNP Nexus

SNPshotrs431905519
SNPdbers431905519
MSV3drs431905519
GWAS Ctlgrs431905519
Max Magnitude0
ClinVar
Risk rs431905519(;)
Alt rs431905519(;)
Reference rs431905519(TG;TG)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 11 with or without polydactyly
Variation info
Gene SPTAN1 WDR34
CLNDBN Short-rib thoracic dysplasia 11 with or without polydactyly
Reversed 0
HGVS NC_000009.11:g.131396092_131396093delTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000083289.4,