Source: ALL
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: rs142805294
rs142805294
EXPH5
1 1.000 0.080 11 108510085 stop gained G/A snv 5.6E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs757231578
rs757231578
FN1
1 1.000 0.080 2 215433387 missense variant A/C;T snv 2.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs879254582
rs879254582
LDLR
4 0.851 0.160 19 11105488 frameshift variant AGCCCCT/- delins 0.010 1.000 1 2012 2012