Source: BEFREE ×
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: rs121908106
rs121908106
MYO5B
2 0.925 0.200 18 49936276 missense variant G/A snv 4.3E-06 0.820 1.000 2 2008 2018
dbSNP: rs1396499970
rs1396499970
KLHL1
1 1.000 0.200 13 69707647 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018