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: rs1135401759
rs1135401759
PLP1 ; RAB9B
3 0.925 0.080 X 103786638 missense variant A/G snv 0.700 0
dbSNP: rs1208636573
rs1208636573
MSTO1 ; LOC105371452
15 0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs150299874
rs150299874
L2HGDH
5 1.000 0.120 14 50302901 splice donor variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1555731819
rs1555731819
KMT2B
26 0.807 0.200 19 35729980 missense variant G/T snv 0.700 0
dbSNP: rs1561904557
rs1561904557
CSF1R
9 0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv 0.700 0
dbSNP: rs398123108
rs398123108
ABCD1
3 0.925 0.200 X 153743211 intron variant G/A;T snv 0.700 0
dbSNP: rs622288
rs622288
MSTO1 ; LOC105371452
15 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
dbSNP: rs864321670
rs864321670
ALDH18A1
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
dbSNP: rs869312880
rs869312880
REEP1
5 0.882 0.120 2 86232624 splice donor variant C/T snv 0.700 0