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: rs886039905
rs886039905
COL6A2
4 0.882 0.240 21 46125854 frameshift variant -/T delins 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
13 0.776 0.320 6 78969879 frameshift variant A/- delins 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
dbSNP: rs369160589
rs369160589
ALG1
35 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
dbSNP: rs587782994
rs587782994
PURA
6 0.882 0.080 5 140114470 missense variant A/G snv 0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs1555386022
rs1555386022
TRIP11
38 0.708 0.320 14 92003418 splice donor variant C/A 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: rs35135520
rs35135520
TIMM50
12 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
dbSNP: rs763028380
rs763028380
ABCC8
12 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
38 0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs587782997
rs587782997
PURA
5 0.925 0.080 5 140114964 stop gained C/G snv 0.700 0
dbSNP: rs1009298200
rs1009298200
ALG1
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 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: rs770703007
rs770703007
MAPK8IP3
8 0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
19 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
dbSNP: rs1057518951
rs1057518951
ARID1B
5 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0
dbSNP: rs1563221666
rs1563221666
SFTPC
14 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
dbSNP: rs387906692
rs387906692
PRKAR1A ; FAM20A
8 0.752 0.480 17 68530405 stop gained C/T 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: rs587782993
rs587782993
PURA
6 0.882 0.080 5 140114737 stop gained C/T snv 0.700 0
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