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: rs3815652
rs3815652
BBS9
3 0.925 0.160 7 33873792 intron variant C/T snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs3804099
rs3804099
TLR2
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.020 1.000 2 2007 2015
dbSNP: rs1052632
rs1052632
MR1
2 0.925 0.080 1 181051094 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs12596308
rs12596308
QPRT
2 0.925 0.120 16 29679875 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs17842268
rs17842268
QPRT
2 0.925 0.120 16 29672859 intron variant T/C snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs2072069
rs2072069
CCL13
2 0.925 0.120 17 34357972 intron variant G/A snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs352142
rs352142
TWF2
2 0.925 0.120 3 52232366 intron variant A/C snv 7.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs352143
rs352143
TWF2
2 0.925 0.120 3 52230891 synonymous variant T/C snv 0.17 0.23 0.010 1.000 1 2015 2015
dbSNP: rs4788172
rs4788172 		2 0.925 0.120 16 29656932 regulatory region variant G/A snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs7932766
rs7932766
TIRAP
2 0.925 0.080 11 126292967 synonymous variant C/T snv 0.18 0.19 0.010 1.000 1 2009 2009