Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587780076
TP53
17 7673743 missense variant C/A;T snv 8.0E-06; 8.0E-06 1
rs774057024
MRE11
11 94456331 missense variant C/T snv 1.6E-05 2.8E-05 1
rs748434421
MRE11
11 94485928 missense variant T/A snv 4.0E-06 1.4E-05 1
rs200085146
MRE11
11 94447287 missense variant C/T snv 2.0E-05 7.0E-06 1
rs869312784
APC
5 112838674 missense variant A/G snv 1
rs747621669
CDKN2A
9 21970988 missense variant C/T snv 4.1E-06 1
rs121913381
CDKN2A
9 21971037 missense variant C/A;T snv 1
rs137853213
COL9A2
1 40307477 missense variant TG/CA mnv 1
rs587777600
RAVER1 ; FDX2
19 10315996 missense variant T/A;G snv 1
rs888630930
ZGLP1 ; FDX2
19 10310616 missense variant G/A snv 1
rs121434328
HAL
12 95992772 missense variant C/A;T snv 3.6E-05 1
rs121434329
HAL
12 95990472 missense variant G/A snv 2.8E-05 2.1E-05 1
rs121434327
HAL
12 95992778 missense variant C/G;T snv 1.2E-05; 3.2E-05 1
rs121434330
HAL
12 95987153 missense variant C/G;T snv 2.0E-05 1
rs28941786
CTH
1 70430388 stop gained C/G;T snv 8.0E-06; 4.0E-06 1
rs116840786
CAV3 ; SSUH2
3 8733962 missense variant C/A;T snv 1
rs121908937
LCT
2 135829593 missense variant C/G snv 1
rs386833833
LCT
2 135807214 missense variant C/T snv 4.0E-06 7.0E-06 1
rs121964907
AGA
4 177440375 missense variant C/T snv 1
rs121964906
AGA
4 177433238 missense variant A/G snv 4.0E-06 1
rs121964905
AGA
4 177433250 missense variant C/T snv 1
rs121964909
AGA
4 177440340 missense variant A/G snv 1
rs386833432
AGA
4 177434434 missense variant C/G snv 1
rs386833433
AGA
4 177434433 missense variant C/T snv 4.0E-06 1
rs386833421
AGA
4 177439671 missense variant C/T snv 4.0E-06 1