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: rs2217560
rs2217560 		1 1.000 0.080 18 72483704 intergenic variant G/A snv 0.80 0.800 1.000 1 2013 2013
dbSNP: rs10103692
rs10103692 		2 0.925 0.080 8 54345567 intergenic variant A/G snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs13266183
rs13266183 		2 0.925 0.080 8 54355052 non coding transcript exon variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs1559810905
rs1559810905
IFIH1
9 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
dbSNP: rs2856830
rs2856830
HLA-DPA1
2 0.925 0.080 6 33073957 intron variant T/C snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs71427857
rs71427857 		1 1.000 0.080 2 182633113 intergenic variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1060502576
rs1060502576
BMPR2
3 0.882 0.080 2 202542432 stop gained G/A snv 0.700 0
dbSNP: rs1060502581
rs1060502581
BMPR2
2 0.925 0.080 2 202520195 stop gained C/T snv 0.700 0
dbSNP: rs1085307149
rs1085307149
BMPR2
2 0.925 0.080 2 202377501 stop gained G/A snv 0.700 0
dbSNP: rs1085307154
rs1085307154
BMPR2
2 0.925 0.080 2 202377522 stop gained G/A snv 0.700 0
dbSNP: rs1085307157
rs1085307157
BMPR2
2 0.925 0.080 2 202377555 splice region variant G/A snv 0.700 0
dbSNP: rs1085307163
rs1085307163
BMPR2
2 0.925 0.080 2 202464832 missense variant T/C snv 0.700 0
dbSNP: rs1085307169
rs1085307169
BMPR2
2 0.925 0.080 2 202464884 frameshift variant TC/- delins 0.700 0
dbSNP: rs1085307177
rs1085307177
BMPR2
2 0.925 0.080 2 202464932 missense variant A/G snv 0.700 0
dbSNP: rs1085307180
rs1085307180
BMPR2
2 0.925 0.080 2 202464935 missense variant G/A snv 0.700 0
dbSNP: rs1085307184
rs1085307184
BMPR2
2 0.925 0.080 2 202464976 stop gained C/T snv 0.700 0
dbSNP: rs1085307188
rs1085307188
BMPR2
2 0.925 0.080 2 202464980 splice donor variant G/A snv 0.700 0
dbSNP: rs1085307203
rs1085307203
BMPR2
2 0.925 0.080 2 202467551 missense variant T/C;G snv 0.700 0
dbSNP: rs1085307222
rs1085307222
BMPR2
2 0.925 0.080 2 202467640 frameshift variant -/A delins 0.700 0
dbSNP: rs1085307223
rs1085307223
BMPR2
2 0.925 0.080 2 202467670 frameshift variant T/- del 0.700 0
dbSNP: rs1085307225
rs1085307225
BMPR2
2 0.925 0.080 2 202467675 frameshift variant AACAC/- delins 0.700 0
dbSNP: rs1085307229
rs1085307229
BMPR2
2 0.925 0.080 2 202467694 splice region variant G/A snv 0.700 0
dbSNP: rs1085307234
rs1085307234
BMPR2
2 0.925 0.080 2 202513748 frameshift variant -/C delins 0.700 0
dbSNP: rs1085307246
rs1085307246
BMPR2
2 0.925 0.080 2 202514968 frameshift variant A/- delins 0.700 0
dbSNP: rs1085307261
rs1085307261
BMPR2
2 0.925 0.080 2 202518993 frameshift variant AGAG/- delins 0.700 0