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: rs114216685
rs114216685
RAD54B ; FSBP
1 1.000 0.120 8 94391640 missense variant T/C snv 8.8E-04 3.9E-04 0.700 0
dbSNP: rs121908689
rs121908689
RAD54L ; LRRC41
2 0.925 0.120 1 46272758 missense variant T/A snv 0.700 0
dbSNP: rs606231364
rs606231364
FAS
2 0.925 0.160 10 89003071 missense variant G/A snv 0.700 0
dbSNP: rs758835365
rs758835365
FAS
1 1.000 0.120 10 89010795 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.833 12 2003 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 11 2003 2018
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.040 1.000 4 2003 2015
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.010 1.000 1 2003 2003
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs121913357
rs121913357
BRAF
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs1447708158
rs1447708158
RAF1
1 1.000 0.120 3 12604160 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs764168570
rs764168570
RAF1
1 1.000 0.120 3 12608879 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 0.800 5 2004 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.050 0.800 5 2004 2017
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.050 0.800 5 2004 2017
dbSNP: rs1979277
rs1979277
SHMT1
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.020 1.000 2 2004 2015
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.020 1.000 2 2004 2007
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs1353759920
rs1353759920
TP73
4 0.851 0.120 1 3707593 missense variant C/A snv 2.1E-05 0.010 1.000 1 2004 2004
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2004 2004
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2004 2004
dbSNP: rs201765376
rs201765376
MTR
12 0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs34767364
rs34767364
NBN
20 0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 0.010 1.000 1 2004 2004