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: rs1057518962
rs1057518962
DMD
6 X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 0.700 0
dbSNP: rs114368325
rs114368325
CYP24A1
4 0.925 0.120 20 54158136 missense variant G/A;C snv 6.6E-04; 8.0E-06 0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
13 0.882 0.120 8 42437137 stop gained C/A snv 0.700 0
dbSNP: rs202085145
rs202085145
SUOX
6 1.000 0.080 12 56002720 missense variant G/T snv 1.0E-03 5.6E-04 0.700 0
dbSNP: rs267607261
rs267607261
MPV17
28 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs368900406
rs368900406
MPV17
27 0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
22 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
dbSNP: rs80356702
rs80356702
CLCN1
9 0.882 0.120 7 143330868 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs28933383
rs28933383
KCNA1
8 0.851 0.120 12 4912055 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016