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: rs10986953
rs10986953
PBX3 ; LOC107984127
1 9 125823102 intron variant G/A snv 5.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs10986994
rs10986994
PBX3
1 9 125867258 intron variant G/A snv 3.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs10987019
rs10987019
PBX3
1 9 125907214 intron variant C/T snv 6.0E-02 0.700 1.000 1 2012 2012
dbSNP: rs10987048
rs10987048
PBX3
1 9 125936821 intron variant A/G snv 7.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs11033026
rs11033026
CD44
1 11 35201756 synonymous variant G/A snv 2.2E-02 8.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs11057408
rs11057408
RFLNA ; ZNF664 ; ZNF664-RFLNA
1 12 123980289 intron variant G/T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs1106304
rs1106304
HSF4 ; FBXL8
1 16 67163235 synonymous variant C/T snv 1.0E-02 4.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs11066600
rs11066600 		1 12 113552405 intergenic variant A/G snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs11127129
rs11127129
MRPL33 ; RBKS
1 2 27853841 intron variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1122227
rs1122227
MPV17
1 2 27321418 intron variant C/T snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs11230873
rs11230873 		1 11 62024805 intergenic variant A/G snv 7.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs11231698
rs11231698
FLRT1 ; MACROD1
1 11 64109691 intron variant C/T snv 8.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs11247287
rs11247287
PCSK6
1 15 101365328 intron variant T/C snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs11564541
rs11564541
PLA2G4C
1 19 48095497 missense variant T/A snv 1.6E-05 7.0E-05 0.700 1.000 1 2012 2012
dbSNP: rs11569440
rs11569440
C3
1 19 6706285 intron variant G/A snv 4.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs11569441
rs11569441
C3
1 19 6705102 intron variant A/G snv 4.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs11569471
rs11569471
C3
1 19 6697579 non coding transcript exon variant G/A snv 1.1E-02 4.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs11569646
rs11569646
PLTP
1 20 45906223 intron variant T/C snv 3.7E-03 1.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs11570119
rs11570119
MYBPC3
1 11 47331760 intron variant G/T snv 2.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs11607985
rs11607985
SCN2B
1 11 118159083 non coding transcript exon variant C/A;G snv 0.700 1.000 1 2008 2008
dbSNP: rs11608072
rs11608072
SCN2B
1 11 118159371 non coding transcript exon variant G/C snv 8.3E-02 0.700 1.000 1 2008 2008
dbSNP: rs11638671
rs11638671
USP3
1 15 63503429 upstream gene variant T/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs11654954
rs11654954 		1 17 39589726 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11656215
rs11656215
PEMT
1 17 17549753 intron variant C/T snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs11720145
rs11720145
SLC2A2
1 3 171021874 intron variant G/A snv 0.21 0.700 1.000 1 2018 2018