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: rs1555526718
rs1555526718
PAFAH1B1
1 1.000 0.080 17 2670276 frameshift variant -/A delins 0.700 0
dbSNP: rs587784259
rs587784259
PAFAH1B1
1 1.000 0.080 17 2667103 stop gained -/A delins 0.700 0
dbSNP: rs797045861
rs797045861
PAFAH1B1
1 1.000 0.080 17 2670201 frameshift variant -/A delins 0.700 0
dbSNP: rs797045864
rs797045864
PAFAH1B1
1 1.000 0.080 17 2672750 frameshift variant -/A delins 0.700 0
dbSNP: rs797045857
rs797045857
PAFAH1B1
1 1.000 0.080 17 2666087 splice region variant -/AAGGTAAC delins 0.700 0
dbSNP: rs797045866
rs797045866
PAFAH1B1
1 1.000 0.080 17 2665408 frameshift variant -/AT delins 0.700 0
dbSNP: rs797045867
rs797045867
PAFAH1B1
1 1.000 0.080 17 2674112 frameshift variant -/ATCAA delins 0.700 0
dbSNP: rs797045870
rs797045870
PAFAH1B1
1 1.000 0.080 17 2674216 frameshift variant -/C delins 4.0E-06 0.700 0
dbSNP: rs797045858
rs797045858
PAFAH1B1
1 1.000 0.080 17 2667084 frameshift variant -/CC delins 0.700 0
dbSNP: rs797045872
rs797045872
PAFAH1B1
1 1.000 0.080 17 2676536 frameshift variant -/G delins 0.700 0
dbSNP: rs587784284
rs587784284
PAFAH1B1
1 1.000 0.080 17 2674103 frameshift variant -/T delins 0.700 0
dbSNP: rs797045855
rs797045855
PAFAH1B1
1 1.000 0.080 17 2680178 frameshift variant -/T delins 0.700 0
dbSNP: rs797045859
rs797045859
PAFAH1B1
1 1.000 0.080 17 2667142 frameshift variant -/T delins 0.700 0
dbSNP: rs587784238
rs587784238
PAFAH1B1
1 1.000 0.080 17 2680224 frameshift variant A/- del 0.700 0
dbSNP: rs587784240
rs587784240
PAFAH1B1
1 1.000 0.080 17 2680261 frameshift variant A/- del 0.700 0
dbSNP: rs113994198
rs113994198
PAFAH1B1
4 0.925 0.080 17 2666053 frameshift variant A/-;AA delins 0.700 1.000 3 1999 2003
dbSNP: rs121434490
rs121434490
PAFAH1B1
1 1.000 0.080 17 2674218 missense variant A/C snv 0.800 1.000 5 1997 2004
dbSNP: rs587784251
rs587784251
PAFAH1B1
1 1.000 0.080 17 2681802 stop lost A/C snv 0.700 0
dbSNP: rs587784287
rs587784287
PAFAH1B1
1 1.000 0.080 17 2674139 missense variant A/C snv 0.700 0
dbSNP: rs121434482
rs121434482
PAFAH1B1
1 1.000 0.080 17 2670209 missense variant A/G snv 0.800 1.000 5 1997 2004
dbSNP: rs1555527149
rs1555527149
PAFAH1B1
1 1.000 0.080 17 2674287 missense variant A/G snv 0.700 0
dbSNP: rs587784279
rs587784279
PAFAH1B1
1 1.000 0.080 17 2672761 splice region variant A/G snv 0.700 0
dbSNP: rs797045061
rs797045061
PAFAH1B1
1 1.000 0.080 17 2670286 stop gained A/T snv 0.700 1.000 2 2009 2016
dbSNP: rs587784263
rs587784263
PAFAH1B1
1 1.000 0.080 17 2667185 missense variant A/T snv 0.700 0
dbSNP: rs587784252
rs587784252
PAFAH1B1
1 1.000 0.080 17 2666031 frameshift variant AA/- delins 0.700 0