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: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.010 1.000 1 2008 2008
dbSNP: rs6676671
rs6676671
IL19
4 0.882 0.160 1 206779403 intron variant T/A snv 0.32 0.010 1.000 1 2008 2008
dbSNP: rs121913105
rs121913105
FGFR3
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs3135932
rs3135932
IL10RA
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2006 2006
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2006 2006
dbSNP: rs995922697
rs995922697
GPX1
15 0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 1.000 4 2004 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.030 0.333 3 2004 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2004 2017
dbSNP: rs1257715362
rs1257715362
MAPK10 ; ARHGAP24
3 0.925 0.120 4 85995065 missense variant A/G snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1351687973
rs1351687973
TP73
3 0.925 0.120 1 3731497 missense variant G/A snv 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs1555525126
rs1555525126
TP53
3 0.925 0.120 17 7673749 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs535311760
rs535311760
TP73
3 0.925 0.120 1 3730979 missense variant G/A snv 1.2E-05; 8.2E-06 0.010 1.000 1 2001 2001