Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1312268347
SARDH
0.925 0.120 9 133734172 start lost A/G snv 5.0E-06 4
rs750380279
CCDC127 ; SDHA
0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 4
rs764575966
SDHC
0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 4
rs121913520
KIT
1.000 0.080 4 54727443 missense variant G/A snv 3
rs202101384
SDHB
0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 3
rs772551056
SDHB
0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 3
rs969139366
PDGFRA
4 54277974 missense variant T/C snv 3.5E-05 3
rs993022333
KIT
0.851 0.080 4 54733173 missense variant A/C;T snv 3
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv 2
rs17084733
KIT
1.000 0.080 4 54738774 3 prime UTR variant G/A snv 0.10 2
rs2855658
RMDN2 ; CYP1B1
2 38069747 3 prime UTR variant T/C snv 0.49 2
rs587776652
SDHC
0.882 0.200 1 161314408 start lost G/A snv 2
rs756581500
PDGFRA
4 54290319 missense variant G/A snv 8.0E-06 1.4E-05 2
rs778015444
PDGFRA
1.000 0.040 4 54274917 missense variant C/T snv 4.0E-06 7.0E-06 2
rs7909236
CYP2C8
1.000 0.040 10 95069673 upstream gene variant G/T snv 0.18 2
rs876658461
SDHB
0.827 0.200 1 17023975 stop gained G/A snv 2
rs1057519700
PDGFRA
4 54277981 missense variant C/A;G snv 1
rs1057519761
KIT
4 54733175 missense variant T/G snv 1
rs1057520031
KIT
1.000 0.040 4 54727440 missense variant A/C;G snv 1
rs1057520033
KIT
1.000 0.040 4 54727439 missense variant G/C snv 1
rs1186206565
PECAM1
17 64352432 missense variant C/T snv 1
rs121913235
KIT
0.925 0.080 4 54727437 missense variant T/A;C;G snv 1
rs121913265
PDGFRA
4 54285925 missense variant G/T snv 1
rs121913523
KIT
1.000 0.040 4 54728092 missense variant T/A;C snv 1
rs200871174
MSLN ; MIR662
16 768475 missense variant C/T snv 7.8E-04 3.6E-04 1