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: rs121912452
rs121912452
SOD1
6 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs12713559
rs12713559
APOB
10 0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04 0.010 1.000 1 1995 1995
dbSNP: rs1159805691
rs1159805691
IGFALS ; SPSB3
4 0.851 0.080 16 1792266 frameshift variant T/- del 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs28931614
rs28931614
FGFR3
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.010 1.000 1 1996 1996
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.010 1.000 1 1996 1996
dbSNP: rs80265967
rs80265967
SOD1
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 1996 1996
dbSNP: rs1183365192
rs1183365192
RET
4 0.851 0.160 10 43106550 missense variant C/T snv 7.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs28933088
rs28933088
KRT17
2 0.925 0.080 17 41624218 missense variant A/C snv 0.010 1.000 1 1997 1997
dbSNP: rs36119840
rs36119840
GDNF ; GDNF-AS1
6 0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03 0.010 1.000 1 1997 1997
dbSNP: rs59151893
rs59151893
KRT17
3 0.882 0.080 17 41624235 missense variant T/C snv 0.010 1.000 1 1997 1997
dbSNP: rs63749891
rs63749891
PSEN1
5 0.851 0.080 14 73198094 missense variant G/C;T snv 0.010 1.000 1 1997 1997
dbSNP: rs74315452
rs74315452
SOD1
12 0.732 0.160 21 31667356 missense variant T/C snv 0.010 1.000 1 1997 1997
dbSNP: rs121908873
rs121908873
TSHR ; LOC101928462
7 0.790 0.160 14 81139828 missense variant G/A;T snv 0.010 1.000 1 1998 1998
dbSNP: rs34181110
rs34181110
MTHFD1
3 0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03 0.010 1.000 1 1998 1998
dbSNP: rs571893270
rs571893270
TSHR ; LOC101928462
3 0.882 0.040 14 81143641 missense variant G/A snv 8.0E-05 2.1E-05 0.010 1.000 1 1998 1998
dbSNP: rs766063498
rs766063498
MTHFD1L
2 0.925 0.080 6 150905747 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs794728615
rs794728615
MEN1
5 0.882 0.160 11 64810025 stop gained G/A;C snv 4.2E-06 0.010 1.000 1 1998 1998
dbSNP: rs121908880
rs121908880
TSHR ; LOC101928462
3 0.882 0.040 14 81143973 missense variant C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs121912456
rs121912456
SOD1 ; LOC102724449
6 0.851 0.120 21 31659806 missense variant G/C snv 0.010 1.000 1 1999 1999
dbSNP: rs121913002
rs121913002
DES
7 0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 0.010 1.000 1 1999 1999
dbSNP: rs1318358361
rs1318358361
ARID1B
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 1999 1999
dbSNP: rs4647924
rs4647924
FGFR3
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.010 1.000 1 1999 1999
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 1999 1999
dbSNP: rs1159077388
rs1159077388
MPHOSPH6
1 1.000 16 82164193 missense variant A/T snv 4.3E-06 0.010 1.000 1 2000 2000
dbSNP: rs121918095
rs121918095
TTR
6 0.827 0.160 18 31598602 missense variant G/A snv 7.9E-04 2.2E-04 0.010 1.000 1 2000 2000