Source: CURATED ×
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: rs587779766
rs587779766
AHDC1
7 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587779767
rs587779767
AHDC1
7 0.851 0.200 1 27549218 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587779768
rs587779768
AHDC1
7 0.851 0.200 1 27549569 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1057518879
rs1057518879
PLOD1
19 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
dbSNP: rs587777446
rs587777446
IFIH1
10 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs587782991
rs587782991
PURA
6 0.882 0.080 5 140114991 inframe deletion TCT/- delins 0.700 0
dbSNP: rs587782992
rs587782992
PURA
5 0.882 0.080 5 140114483 frameshift variant TC/-;TCTC delins 0.700 0
dbSNP: rs587782993
rs587782993
PURA
6 0.882 0.080 5 140114737 stop gained C/T snv 0.700 0
dbSNP: rs587782994
rs587782994
PURA
6 0.882 0.080 5 140114470 missense variant A/G snv 0.700 0
dbSNP: rs587782995
rs587782995
PURA
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
dbSNP: rs587782996
rs587782996
PURA
5 0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06 0.700 0
dbSNP: rs587782997
rs587782997
PURA
5 0.925 0.080 5 140114964 stop gained C/G snv 0.700 0
dbSNP: rs587782998
rs587782998
PURA
5 0.882 0.080 5 140114651 missense variant T/A snv 0.700 0
dbSNP: rs587782999
rs587782999
PURA
6 0.882 0.080 5 140114446 missense variant G/A;C snv 0.700 0
dbSNP: rs587783000
rs587783000
PURA
5 0.925 0.080 5 140114444 inframe deletion TCG/- del 0.700 0
dbSNP: rs587783001
rs587783001
PURA
6 0.882 0.080 5 140114777 missense variant G/C snv 0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
5 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
13 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
dbSNP: rs1563221666
rs1563221666
SFTPC
14 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
dbSNP: rs1554700718
rs1554700718
HNRNPK
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1057518588
rs1057518588
IGHMBP2
6 0.851 0.160 11 68908632 splice donor variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs12720458
rs12720458
KCNQ1
20 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0