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: rs587784236
rs587784236
PAFAH1B1
1 1.000 0.080 17 2680170 missense variant C/G;T snv 0.700 0
dbSNP: rs587784237
rs587784237
PAFAH1B1
1 1.000 0.080 17 2680185 frameshift variant CGTGGAGT/- del 0.700 0
dbSNP: rs587784238
rs587784238
PAFAH1B1
1 1.000 0.080 17 2680224 frameshift variant A/- del 0.700 0
dbSNP: rs587784239
rs587784239
PAFAH1B1
1 1.000 0.080 17 2680225 missense variant G/A snv 0.700 0
dbSNP: rs587784240
rs587784240
PAFAH1B1
1 1.000 0.080 17 2680261 frameshift variant A/- del 0.700 0
dbSNP: rs587784241
rs587784241
PAFAH1B1
1 1.000 0.080 17 2680272 stop gained C/T snv 0.700 0
dbSNP: rs587784242
rs587784242
PAFAH1B1
1 1.000 0.080 17 2680296 missense variant C/T snv 0.700 0
dbSNP: rs587784243
rs587784243
PAFAH1B1
1 1.000 0.080 17 2680322 splice donor variant T/A snv 0.700 0
dbSNP: rs587784244
rs587784244
PAFAH1B1
1 1.000 0.080 17 2680320 missense variant G/T snv 0.700 0
dbSNP: rs587784245
rs587784245
PAFAH1B1
1 1.000 0.080 17 2681734 missense variant C/T snv 0.700 0
dbSNP: rs587784247
rs587784247
PAFAH1B1
1 1.000 0.080 17 2681762 missense variant G/A snv 0.700 0
dbSNP: rs587784248
rs587784248
PAFAH1B1
1 1.000 0.080 17 2681765 missense variant G/C snv 0.700 0
dbSNP: rs587784249
rs587784249
PAFAH1B1
1 1.000 0.080 17 2681770 missense variant G/C snv 0.700 0
dbSNP: rs587784250
rs587784250
PAFAH1B1
1 1.000 0.080 17 2666019 missense variant G/A snv 0.700 0
dbSNP: rs587784251
rs587784251
PAFAH1B1
1 1.000 0.080 17 2681802 stop lost A/C snv 0.700 0
dbSNP: rs587784252
rs587784252
PAFAH1B1
1 1.000 0.080 17 2666031 frameshift variant AA/- delins 0.700 0
dbSNP: rs587784253
rs587784253
PAFAH1B1
1 1.000 0.080 17 2666047 frameshift variant T/- delins 0.700 0
dbSNP: rs587784254
rs587784254
PAFAH1B1
1 1.000 0.080 17 2666061 missense variant T/A snv 0.700 0
dbSNP: rs587784256
rs587784256
PAFAH1B1
1 1.000 0.080 17 2666091 splice donor variant G/A;T snv 4.9E-06 0.700 0
dbSNP: rs587784257
rs587784257
PAFAH1B1
1 1.000 0.080 17 2666090 missense variant G/C snv 0.700 0
dbSNP: rs587784258
rs587784258
PAFAH1B1
1 1.000 0.080 17 2667064 stop gained C/T snv 0.700 0
dbSNP: rs587784259
rs587784259
PAFAH1B1
1 1.000 0.080 17 2667103 stop gained -/A delins 0.700 0
dbSNP: rs587784260
rs587784260
PAFAH1B1
1 1.000 0.080 17 2665369 splice region variant C/G;T snv 0.700 0
dbSNP: rs587784261
rs587784261
PAFAH1B1
1 1.000 0.080 17 2667170 missense variant T/A snv 0.700 0
dbSNP: rs587784262
rs587784262
PAFAH1B1
1 1.000 0.080 17 2665376 stop gained C/A;G;T snv 0.700 0