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: rs765368797
rs765368797
HSPA9 ; LOC105379193
1 1.000 5 138570987 missense variant T/C snv 4.0E-06 0.810 1.000 2 2015 2019
dbSNP: rs751478142
rs751478142
HSPA9 ; LOC105379193
2 1.000 5 138570994 missense variant G/A snv 2.8E-05 1.4E-05 0.810 1.000 1 2019 2019
dbSNP: rs772570880
rs772570880
HSPA9
1 1.000 5 138566715 frameshift variant CT/- del 6.3E-05 0.700 0
dbSNP: rs863224451
rs863224451
TP53
20 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs993079710
rs993079710
TP53
1 1.000 17 7673244 missense variant C/T snv 0.010 1.000 1 2019 2019