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: rs11806449
rs11806449
1.000 1 240493497 intron variant G/A snv 0.21 0.17
CUI: C0000846
Disease: Agenesis
Agenesis
0.010 < 0.001 1 2018 2018