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: rs121434487
rs121434487
PAFAH1B1
1 1.000 0.080 17 2670247 missense variant G/A snv 0.800 1.000 7 1997 2004
dbSNP: rs121434482
rs121434482
PAFAH1B1
1 1.000 0.080 17 2670209 missense variant A/G snv 0.800 1.000 5 1997 2004
dbSNP: rs121434485
rs121434485
PAFAH1B1
1 1.000 0.080 17 2676553 missense variant G/C snv 0.800 1.000 5 1997 2004
dbSNP: rs121434486
rs121434486
PAFAH1B1
1 1.000 0.080 17 2665431 missense variant T/C snv 0.800 1.000 5 1997 2004
dbSNP: rs121434490
rs121434490
PAFAH1B1
1 1.000 0.080 17 2674218 missense variant A/C snv 0.800 1.000 5 1997 2004
dbSNP: rs113994198
rs113994198
PAFAH1B1
4 0.925 0.080 17 2666053 frameshift variant A/-;AA delins 0.700 1.000 3 1999 2003
dbSNP: rs121434484
rs121434484
PAFAH1B1
2 0.925 0.080 17 2670268 missense variant T/C snv 0.700 1.000 2 1999 2003
dbSNP: rs121434488
rs121434488
PAFAH1B1
2 0.925 0.080 17 2674110 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 1999 2003
dbSNP: rs794729199
rs794729199
PAFAH1B1
1 1.000 0.080 17 2674206 missense variant G/A snv 7.0E-06 0.700 1.000 2 1997 2004
dbSNP: rs797045061
rs797045061
PAFAH1B1
1 1.000 0.080 17 2670286 stop gained A/T snv 0.700 1.000 2 2009 2016
dbSNP: rs1057520515
rs1057520515
PAFAH1B1
1 1.000 0.080 17 2680321 splice donor variant G/A snv 0.700 0
dbSNP: rs113994200
rs113994200
PAFAH1B1
1 1.000 0.080 17 2680206 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs113994202
rs113994202
PAFAH1B1
1 1.000 0.080 17 2672645 intron variant T/C snv 0.700 0
dbSNP: rs113994203
rs113994203
PAFAH1B1
1 1.000 0.080 17 2676607 splice donor variant G/A snv 0.700 0
dbSNP: rs121434483
rs121434483
PAFAH1B1
1 1.000 0.080 17 2674205 stop gained C/T snv 0.700 0
dbSNP: rs121434489
rs121434489
PAFAH1B1
2 0.925 0.080 17 2638310 stop gained C/T snv 0.700 0
dbSNP: rs1555526309
rs1555526309
PAFAH1B1
1 1.000 0.080 17 2666074 frameshift variant T/- delins 0.700 0
dbSNP: rs1555526718
rs1555526718
PAFAH1B1
1 1.000 0.080 17 2670276 frameshift variant -/A delins 0.700 0
dbSNP: rs1555526733
rs1555526733
PAFAH1B1
1 1.000 0.080 17 2670332 splice donor variant G/A snv 0.700 0
dbSNP: rs1555527149
rs1555527149
PAFAH1B1
1 1.000 0.080 17 2674287 missense variant A/G snv 0.700 0
dbSNP: rs1555527743
rs1555527743
PAFAH1B1
1 1.000 0.080 17 2680132 splice acceptor variant ACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTT/- delins 0.700 0
dbSNP: rs1567559851
rs1567559851
PAFAH1B1
1 1.000 0.080 17 2674240 stop gained G/A snv 0.700 0
dbSNP: rs1567561137
rs1567561137
PAFAH1B1
1 1.000 0.080 17 2676592 splice donor variant CTTATGACCCTCGTAAGTTTGC/- delins 0.700 0
dbSNP: rs200390886
rs200390886
PAFAH1B1
1 1.000 0.080 17 2670266 missense variant G/A;C snv 0.700 0
dbSNP: rs369259961
rs369259961
PAFAH1B1
1 1.000 0.080 17 2665423 stop gained T/C;G snv 4.0E-06 0.700 0