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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1476413
rs1476413
MTHFR
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.010 1.000 1 2011 2011
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs4846049
rs4846049
MTHFR ; C1orf167
11 0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs794729221
rs794729221
SLC2A1
2 0.925 0.240 1 42929736 stop gained G/A snv 0.700 0
dbSNP: rs121918368
rs121918368
TRNT1 ; CRBN
3 0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06 0.020 1.000 2 2008 2013
dbSNP: rs1301785134
rs1301785134
ATR
3 0.925 0.280 3 142556117 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs587776690
rs587776690
ATR
4 0.882 0.280 3 142556439 synonymous variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs745986648
rs745986648
SGO1 ; SGO1-AS1
2 1.000 0.200 3 20174431 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
6 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.010 1.000 1 2006 2006
dbSNP: rs869312674
rs869312674
SYNGAP1
2 0.925 0.200 6 33446569 splice region variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1364926780
rs1364926780
ABCB1
5 0.882 0.200 7 87550272 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1404008939
rs1404008939
ABCB1
4 0.925 0.200 7 87504324 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs199516560
rs199516560
ABCB1
5 0.851 0.200 7 87600772 5 prime UTR variant G/A snv 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs255012
rs255012 		2 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs1562928193
rs1562928193
KMT2E
1 1.000 0.200 7 105102045 frameshift variant -/TA delins 0.700 0
dbSNP: rs118203933
rs118203933
CA2
6 0.925 0.360 8 85473779 missense variant C/T snv 8.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs1335072648
rs1335072648
RAD21
2 1.000 0.200 8 116854423 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs6530893
rs6530893
TUSC3
2 1.000 0.200 8 15671068 intron variant T/C snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs6994908
rs6994908
TUSC3
2 1.000 0.200 8 15674943 intron variant T/C snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs141228574
rs141228574
COQ4
2 1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03 0.010 1.000 1 2017 2017
dbSNP: rs1427146168
rs1427146168
NUP214
2 1.000 0.200 9 131140671 stop gained C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs587777696
rs587777696
SLC1A1 ; SPATA6L
3 0.925 0.280 9 4585316 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs878853143
rs878853143
GRIN1
2 0.925 0.200 9 137162209 missense variant C/G;T snv 0.700 0