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: rs17796783
rs17796783 		1 14 85343567 intergenic variant T/C snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs180242
rs180242
GNG11 ; LOC105375402
1 7 93920284 upstream gene variant T/A snv 0.61 0.800 1.000 1 2013 2013
dbSNP: rs2067615
rs2067615
RFX4 ; LOC100287944
1 12 106755644 intron variant A/T snv 0.63 0.800 1.000 1 2013 2013
dbSNP: rs2350782
rs2350782
CHRM2 ; LOC349160
1 7 136957887 intron variant T/C snv 0.10 0.800 1.000 1 2013 2013
dbSNP: rs236373
rs236373
CPNE5
1 6 36824281 intron variant C/T snv 0.31 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: rs4489968
rs4489968 		2 1.000 0.080 15 73373165 upstream gene variant T/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs6127471
rs6127471
KIAA1755
1 20 38215636 intron variant C/T snv 0.40 0.800 1.000 1 2013 2013
dbSNP: rs6882776
rs6882776
NKX2-5
2 1.000 0.080 5 173237160 upstream gene variant G/A snv 0.34 0.800 1.000 1 2013 2013
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: rs7722600
rs7722600
LOC101928005 ; LOC107986368
1 5 137859073 non coding transcript exon variant A/G snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs7980799
rs7980799
SYT10
1 12 33424055 intron variant A/C;T snv 0.70 0.800 1.000 1 2013 2013
dbSNP: rs826838
rs826838
CPNE8
2 12 38712929 intron variant C/T snv 0.51 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: rs17180489
rs17180489
RGS6 ; LOC105370559
2 14 72418763 intron variant G/C snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs236352
rs236352
C6orf89
1 6 36849337 upstream gene variant A/G snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs10002082
rs10002082
MARCHF1
1 4 164159753 intron variant A/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs10142635
rs10142635
EGLN3
1 14 34423401 intron variant A/G snv 3.2E-02 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: rs11034161
rs11034161
LOC105376632
1 11 37475966 intergenic variant A/C;G 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