Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs768849266
rs768849266
2 1.000 1 183261260 missense variant C/T snv 1.2E-05 0.700 1.000 13 2002 2016
dbSNP: rs775499191
rs775499191
2 1.000 1 183286706 frameshift variant -/G delins 4.0E-06; 4.0E-06 0.700 1.000 13 2002 2016