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: rs104894270
rs104894270
3 0.882 0.160 11 47582436 missense variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs104894705
rs104894705
2 0.925 0.120 19 1391006 missense variant G/A snv 5.6E-05 8.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs104894885
rs104894885
5 0.851 0.120 X 119873312 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs1131692037
rs1131692037
2 0.925 0.120 16 1773083 stop gained C/A;T snv 0.700 0
dbSNP: rs1135402725
rs1135402725
6 0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs113994093
rs113994093
1 1.000 0.120 15 89330241 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 1 2009 2009
dbSNP: rs113994098
rs113994098
12 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 1.000 1 2009 2009
dbSNP: rs1161932777
rs1161932777
2 0.925 0.120 16 1772798 splice donor variant C/A snv 7.0E-06 0.700 1.000 1 1986 1986
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
5 0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 0.700 1.000 2 1991 1993
dbSNP: rs118192100
rs118192100
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
4 0.882 0.200 MT 8363 non coding transcript exon variant G/A snv 0.700 1.000 1 2000 2000
dbSNP: rs121908576
rs121908576
4 0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04 0.700 0
dbSNP: rs121908577
rs121908577
2 0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 5 2007 2015
dbSNP: rs121909366
rs121909366
GHR
3 0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05 0.010 1.000 1 1997 1997
dbSNP: rs121918657
rs121918657
2 0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05 0.700 1.000 3 1998 2013
dbSNP: rs121918658
rs121918658
2 0.925 0.120 9 133352074 missense variant A/C snv 0.700 1.000 7 1998 2012
dbSNP: rs1267554976
rs1267554976
1 1.000 0.120 11 68036321 start lost G/A;C snv 3.5E-05 0.700 0
dbSNP: rs1283780488
rs1283780488
2 0.925 0.200 11 78469304 stop gained -/T delins 0.010 < 0.001 1 2015 2015
dbSNP: rs1319811735
rs1319811735
1 1.000 0.120 9 133352493 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1352878283
rs1352878283
1 1.000 0.120 22 50523639 missense variant A/G snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs137852767
rs137852767
2 0.925 0.120 5 251011 missense variant C/T snv 0.700 1.000 3 1995 2015
dbSNP: rs137852863
rs137852863
5 0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 0.700 1.000 1 2005 2005
dbSNP: rs1391748504
rs1391748504
1 1.000 0.120 9 133352143 splice acceptor variant C/G snv 7.0E-06 0.700 0
dbSNP: rs1410388157
rs1410388157
1 1.000 0.120 9 133356415 frameshift variant -/GCAGCCC delins 0.700 0
dbSNP: rs141970897
rs141970897
8 0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 0.010 1.000 1 2020 2020
dbSNP: rs142441643
rs142441643
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 0