rs886039792, TXNDC15

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Ambiguous Genitalia
CUI: C0266362
Disease: Ambiguous Genitalia
14 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
Encephalocele
CUI: C4551722
Disease: Encephalocele
7 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
Neonatal Death
CUI: C0410916
Disease: Neonatal Death
10 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0