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: rs11118555
rs11118555
CD46
1 1 207767508 non coding transcript exon variant T/A snv 9.3E-02 0.800 1.000 1 2013 2013
dbSNP: rs11578508
rs11578508 		1 1 207955720 upstream gene variant A/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs12731740
rs12731740
MIR29B2CHG
2 1 207851475 intron variant C/T snv 9.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs188344082
rs188344082 		3 1.000 0.040 1 18783262 intergenic variant G/A snv 1.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs61823501
rs61823501
C1orf21
3 1.000 0.040 1 184396836 intron variant C/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs74056623
rs74056623 		3 1.000 0.040 1 18784584 intergenic variant G/A snv 8.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs74056624
rs74056624 		3 1.000 0.040 1 18790006 intergenic variant G/A snv 2.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs13030174
rs13030174 		1 2 231406573 regulatory region variant A/C snv 0.21 0.800 1.000 1 2013 2013
dbSNP: rs13413635
rs13413635
PDE11A
1 2 177815704 intron variant A/G snv 0.30 0.800 1.000 1 2013 2013
dbSNP: rs17362588
rs17362588
CCDC141
2 2 178856319 missense variant G/A snv 6.0E-02 6.1E-02 0.800 1.000 1 2013 2013
dbSNP: rs4140885
rs4140885
TFPI ; LOC105373786
1 2 187468337 intron variant G/A snv 0.35 0.800 1.000 1 2013 2013
dbSNP: rs6432018
rs6432018 		1 2 9581767 downstream gene variant C/A snv 0.60 0.700 1.000 1 2012 2012
dbSNP: rs79146658
rs79146658
CCDC141 ; LOC105373766
2 2 178921341 intron variant T/C snv 5.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs13080668
rs13080668
CACNA1D
1 3 53409327 intron variant T/A;C snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs189919070
rs189919070
MIR4788
3 1.000 0.040 3 134436825 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7612445
rs7612445 		3 1.000 0.080 3 179455191 upstream gene variant G/T snv 0.24 0.800 1.000 1 2013 2013
dbSNP: rs9647379
rs9647379
FNDC3B
2 3 172067378 intron variant G/C snv 0.32 0.800 1.000 1 2013 2013
dbSNP: rs10002082
rs10002082
MARCHF1
1 4 164159753 intron variant A/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs10517800
rs10517800
MARCHF1
1 4 164174438 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1120384
rs1120384
MARCHF1
1 4 164161744 intron variant G/A snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs11930019
rs11930019
MARCHF1
1 4 164159224 intron variant T/C snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs11931264
rs11931264
MARCHF1
1 4 164160251 intron variant T/C snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs11943491
rs11943491
MARCHF1
1 4 164159378 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs13435288
rs13435288
MARCHF1
1 4 164169729 intron variant A/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs1430998
rs1430998
MARCHF1
1 4 164164966 intron variant A/G snv 0.20 0.700 1.000 1 2018 2018