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: rs13273924
rs13273924 		1 8 33269481 intergenic variant T/G snv 0.45 0.700 1.000 1 2009 2009
dbSNP: rs2330183
rs2330183
SLC19A1
1 21 45533378 intron variant C/T snv 0.51 0.700 1.000 1 2009 2009
dbSNP: rs2501618
rs2501618
CEP350
2 1.000 0.080 1 179989674 intron variant T/C snv 0.81 0.700 1.000 1 2009 2009
dbSNP: rs6561505
rs6561505
FNDC3A
1 13 49179593 intron variant G/A snv 5.9E-02 0.700 1.000 1 2011 2011
dbSNP: rs7629719
rs7629719
COL6A5
1 3 130441090 intron variant G/T snv 0.89 0.700 1.000 1 2009 2009
dbSNP: rs7835153
rs7835153
ANKRD46
1 8 100561592 upstream gene variant A/G snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs7835920
rs7835920 		1 8 58396173 intergenic variant T/G snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs7843085
rs7843085 		1 8 33258026 intergenic variant G/A;C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs9292961
rs9292961 		1 5 20940020 downstream gene variant G/A snv 0.58 0.700 1.000 1 2009 2009
dbSNP: rs9376221
rs9376221
MAP3K5
1 6 136671241 intron variant T/C snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs886039799
rs886039799
BBS9
17 0.763 0.320 7 33273896 frameshift variant C/- del 0.700 0