Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1346131223
rs1346131223
1.000 6 43777657 missense variant A/G snv 7.4E-06
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect
0.010 1.000 1 2017 2017