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: rs1057518781
rs1057518781
MCOLN1
7 0.925 0.120 19 7527961 splice donor variant G/A;C snv 0.700 0
dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
7 0.925 0.120 19 7526579 stop gained C/G;T snv 0.700 0
dbSNP: rs141498002
rs141498002
PMM2
8 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.700 0
dbSNP: rs1558027212
rs1558027212
TMCO1
7 0.827 0.320 1 165728096 frameshift variant GC/- del 0.700 0
dbSNP: rs1565538350
rs1565538350
TPI1
7 0.851 0.200 12 6870074 missense variant G/A snv 0.700 0
dbSNP: rs375761808
rs375761808
ARID1A
6 0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs587784347
rs587784347
PLA2G6
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs61751035
rs61751035
RPS6KC1
6 0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs2069837
rs2069837
IL6 ; IL6-AS1
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2014 2014