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: rs1568426700
rs1568426700
1 19 7120678 missense variant G/A snv 0.700 0
dbSNP: rs199560195
rs199560195
1 13 75299364 missense variant C/A;T snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs886041065
rs886041065
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0