Source: BEFREE

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: rs777307167
rs777307167
1.000 2 218890128 missense variant T/C snv 1.2E-05
CUI: C0000846
Disease: Agenesis
Agenesis
0.010 1.000 1 2019 2019