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: rs17107315
rs17107315
2 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.870 1.000 5 2000 2018
dbSNP: rs104893939
rs104893939
1 0.925 0.040 5 147831537 missense variant A/C;G snv 0.800 1.000 5 2000 2010