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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.667 3 2005 2014
dbSNP: rs6469804
rs6469804
COLEC10
2 8 119032590 intron variant G/A;C snv 0.020 1.000 2 2010 2017
dbSNP: rs1213308971
rs1213308971
DMD
1 X 31348599 missense variant T/A snv 5.5E-06 0.010 1.000 1 2006 2006
dbSNP: rs1427938321
rs1427938321
DMD
1 X 32365095 missense variant T/A snv 5.5E-06 0.010 1.000 1 2006 2006
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2006 2006
dbSNP: rs1982073
rs1982073
TGFB1
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs270611
rs270611
PDLIM4 ; P4HA2
1 5 132256377 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs281865264
rs281865264
BEST1 ; LOC107984334
2 1.000 0.080 11 61959539 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2908004
rs2908004
WNT16
4 1.000 0.040 7 121329715 missense variant G/A;T snv 0.44; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3900945
rs3900945
PDLIM4 ; P4HA2
1 5 132257177 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs3917
rs3917
COL1A2
3 0.925 0.160 7 94431047 3 prime UTR variant -/GCTGTCC;GTTG;GTTGTCC;GTTGTGC ins 0.010 1.000 1 2019 2019
dbSNP: rs6831280
rs6831280
IDUA
4 0.925 0.080 4 1002377 missense variant G/A;C snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs758488397
rs758488397
COL1A2
2 1.000 0.080 7 94412666 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs784288
rs784288
MECOM
2 1.000 0.080 3 169253443 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs876657777
rs876657777
DMD
1 X 32644215 missense variant T/A snv 0.010 1.000 1 2006 2006