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: rs3773643
rs3773643
TGFBR2
2 3 30668751 intron variant A/G snv 0.19 0.700 1.000 1 2007 2007
dbSNP: rs59072263
rs59072263 		2 7 8112437 upstream gene variant G/T snv 0.15 0.700 1.000 1 2013 2013
dbSNP: rs12419342
rs12419342
RAPSN
2 1.000 0.040 11 47446993 intron variant C/T snv 0.61 0.700 1.000 1 2014 2014
dbSNP: rs2025751
rs2025751
PKHD1
2 6 51757651 intron variant T/C snv 0.53 0.700 1.000 1 2014 2014
dbSNP: rs587847
rs587847
LOC105370772
2 15 37367848 intron variant C/A snv 0.69 0.700 1.000 1 2014 2014
dbSNP: rs7518099
rs7518099
TMCO1 ; TMCO1-AS1
4 0.925 0.040 1 165767643 intron variant C/T snv 0.89 0.700 1.000 1 2014 2014
dbSNP: rs8176743
rs8176743
ABO
7 1.000 0.040 9 133256028 missense variant C/T snv 0.12 0.11 0.700 1.000 1 2014 2014
dbSNP: rs10502235
rs10502235
ARHGEF12
1 11 120341714 intron variant A/G snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs10790381
rs10790381
ARHGEF12
1 11 120386786 intron variant A/G snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs10892565
rs10892565
ARHGEF12
1 11 120364851 intron variant T/C snv 0.21 0.700 1.000 1 2015 2015
dbSNP: rs10892569
rs10892569
ARHGEF12
1 11 120399540 intron variant A/G snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs10892575
rs10892575
ARHGEF12
1 11 120420428 intron variant C/G snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs11217843
rs11217843
ARHGEF12
1 11 120369228 intron variant A/G snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs11217857
rs11217857
ARHGEF12
1 11 120399461 intron variant A/G snv 0.21 0.700 1.000 1 2015 2015
dbSNP: rs11217866
rs11217866
ARHGEF12
1 11 120430095 intron variant T/A snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs11217874
rs11217874
ARHGEF12
1 11 120454839 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11217875
rs11217875
ARHGEF12
1 11 120454850 intron variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11823264
rs11823264
ARHGEF12
1 11 120423295 intron variant G/A snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs11824032
rs11824032
ARHGEF12
1 11 120354080 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11827818
rs11827818
TLCD5
1 11 120328019 intron variant A/G snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs12270397
rs12270397
ARHGEF12
1 11 120377633 intron variant C/T snv 0.21 0.700 1.000 1 2015 2015
dbSNP: rs12785387
rs12785387
ARHGEF12
1 11 120351278 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs12807097
rs12807097
ARHGEF12
1 11 120371639 intron variant G/A snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs17123861
rs17123861
ARHGEF12
1 11 120385628 intron variant T/C snv 0.21 0.700 1.000 1 2015 2015
dbSNP: rs1812974
rs1812974
ARHGEF12
1 11 120350359 intron variant C/T snv 0.21 0.700 1.000 1 2015 2015