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: rs11247957
rs11247957
LIN28A
3 0.882 0.080 1 26429683 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2020 2020
dbSNP: rs2273267
rs2273267
NRAS ; CSDE1
4 0.882 0.080 1 114716848 upstream gene variant A/C;T snv 0.010 1.000 1 2020 2020
dbSNP: rs34787247
rs34787247
LIN28A
4 0.851 0.200 1 26428582 3 prime UTR variant A/C;G snv 0.010 1.000 1 2020 2020
dbSNP: rs3811463
rs3811463
LIN28A
14 0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs3811464
rs3811464
LIN28A
4 0.851 0.160 1 26410652 upstream gene variant G/A snv 0.42 0.010 1.000 1 2020 2020
dbSNP: rs217727
rs217727
MRPL23 ; H19 ; HOTS
34 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.020 0.500 2 2019 2019
dbSNP: rs2839698
rs2839698
MRPL23 ; H19 ; MIR675
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.020 0.500 2 2019 2019
dbSNP: rs3024270
rs3024270
MRPL23 ; H19 ; HOTS
8 0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06 0.020 0.500 2 2019 2019
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2019 2019
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1052536
rs1052536
LIG3
10 0.776 0.200 17 35004556 3 prime UTR variant C/T snv 0.42 0.36 0.010 1.000 1 2019 2019
dbSNP: rs11103603
rs11103603 		4 0.851 0.080 9 134449754 TF binding site variant T/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
dbSNP: rs121909536
rs121909536
ANG ; RNASE4
5 0.827 0.120 14 20693686 missense variant A/T snv 1.2E-03 9.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs121909539
rs121909539
ANG ; RNASE4
5 0.827 0.120 14 20693753 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs12442054
rs12442054 		3 0.882 0.080 15 74165683 intron variant G/A snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs12587
rs12587
KRAS
5 0.827 0.200 12 25205894 3 prime UTR variant T/G snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs1362575880
rs1362575880
PSEN1
4 0.851 0.120 14 73192840 missense variant A/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs17487792
rs17487792
BARD1
3 0.882 0.080 2 214778776 intron variant C/T snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2153977
rs2153977
MAGI3
6 0.807 0.240 1 113537449 intron variant C/T snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs28933981
rs28933981
TTR
8 0.807 0.200 18 31598647 missense variant C/T snv 1.5E-03 1.7E-03 0.010 1.000 1 2019 2019
dbSNP: rs3136817
rs3136817
APEX1 ; OSGEP
12 0.732 0.280 14 20456275 intron variant T/C snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs3738888
rs3738888
BARD1
3 0.882 0.080 2 214730440 missense variant G/A;T snv 8.4E-03 0.010 1.000 1 2019 2019