Source: CLINVAR ×
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: rs61729366
rs61729366
FRAS1
6 0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 0.700 0
dbSNP: rs143044921
rs143044921
FREM2
8 0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 0.700 0
dbSNP: rs121912556
rs121912556
INSL3
1 1.000 0.120 19 17816945 missense variant C/T snv 6.9E-04 2.7E-04 0.710 1.000 0 2018 2018
dbSNP: rs104894697
rs104894697
INSL3
1 1.000 0.120 19 17816972 missense variant G/A;C snv 3.5E-04; 4.0E-06 0.800 1.000 0 2000 2003
dbSNP: rs61752717
rs61752717
MEFV
19 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
dbSNP: rs200426926
rs200426926
THOC6 ; BICDL2
13 0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 0.700 0
dbSNP: rs138632121
rs138632121
HCFC1R1 ; THOC6
13 0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 0.700 0
dbSNP: rs141498002
rs141498002
PMM2
8 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.700 0
dbSNP: rs398122886
rs398122886
INSL3
1 1.000 0.120 19 17817033 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
46 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 4 2001 2012
dbSNP: rs765379963
rs765379963
TMCO1
19 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1480612338
rs1480612338
DHH ; LOC105369759
4 0.851 0.160 12 49090416 missense variant C/T snv 4.3E-06 0.700 1.000 1 2018 2018
dbSNP: rs397517154
rs397517154
SOS1
15 0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs104894698
rs104894698
INSL3
1 1.000 0.120 19 17816946 missense variant G/A snv 4.0E-06 2.1E-05 0.800 1.000 0 2000 2003
dbSNP: rs121912555
rs121912555
INSL3
1 1.000 0.120 19 17816920 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.800 1.000 0 2000 2003
dbSNP: rs121913355
rs121913355
BRAF
32 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs397507545
rs397507545
PTPN11
16 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1568303086
rs1568303086
TCF4
5 0.882 0.320 18 55228877 missense variant C/A snv 0.700 1.000 2 2011 2014
dbSNP: rs1057516033
rs1057516033
KAT6B
9 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1060499548
rs1060499548
ABL1
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1135402740
rs1135402740
SMCHD1
4 0.925 0.240 18 2674018 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554904772
rs1554904772
BRSK2
4 0.882 0.280 11 1443490 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1565573786
rs1565573786
DHH ; LOC105369759
6 0.807 0.160 12 49091165 stop gained G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1057518944
rs1057518944
NIPBL
9 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0