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: rs1226770904
rs1226770904
P3H1
1 1.000 0.120 1 42747303 missense variant C/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs761033636
rs761033636
P3H1 ; C1orf50
1 1.000 0.120 1 42766971 start lost T/C;G snv 4.3E-06 0.010 1.000 1 2018 2018
dbSNP: rs1277989297
rs1277989297
FN1
2 0.925 0.200 2 215428270 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1044293062
rs1044293062
CRTAP
1 1.000 0.120 3 33114388 missense variant C/T snv 7.7E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs1229356148
rs1229356148
PLOD2
1 1.000 0.120 3 146072579 missense variant C/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1187611948
rs1187611948
TENT5A
2 0.925 0.120 6 81751762 missense variant T/C snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs121912905
rs121912905
COL1A2
2 0.925 0.120 7 94408806 missense variant G/T snv 0.020 1.000 2 1991 1992
dbSNP: rs67865220
rs67865220
COL1A2
4 0.851 0.120 7 94409795 missense variant G/A;C;T snv 0.020 1.000 2 2016 2017
dbSNP: rs121912906
rs121912906
COL1A2
2 0.925 0.120 7 94412593 missense variant G/T snv 0.010 1.000 1 1991 1991
dbSNP: rs121912910
rs121912910
COL1A2
2 0.925 0.120 7 94413083 missense variant G/A snv 0.010 1.000 1 1994 1994
dbSNP: rs1310067676
rs1310067676
COL1A2
1 1.000 0.120 7 94423024 missense variant A/G snv 4.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs66612022
rs66612022
COL1A2
9 0.763 0.240 7 94409768 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs72656392
rs72656392
COL1A2
3 0.882 0.120 7 94409732 missense variant G/A;C snv 0.010 1.000 1 1994 1994
dbSNP: rs72658176
rs72658176
COL1A2
3 0.882 0.120 7 94420604 missense variant G/A snv 4.1E-06 0.010 1.000 1 1997 1997
dbSNP: rs72658196
rs72658196
COL1A2
1 1.000 0.120 7 94423092 missense variant G/C snv 0.010 1.000 1 1990 1990
dbSNP: rs72659306
rs72659306
COL1A2
1 1.000 0.120 7 94425144 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs1554397369
rs1554397369
COL1A2
1 1.000 0.120 7 94418526 missense variant G/T snv 0.700 0
dbSNP: rs1562906570
rs1562906570
COL1A2
1 1.000 0.120 7 94424427 missense variant G/T snv 0.700 0
dbSNP: rs193922159
rs193922159
COL1A2
1 1.000 0.120 7 94410478 missense variant C/A;G snv 5.1E-05 0.700 0
dbSNP: rs193922162
rs193922162
COL1A2
1 1.000 0.120 7 94417733 missense variant G/A snv 0.700 0
dbSNP: rs193922165
rs193922165
COL1A2
1 1.000 0.120 7 94425655 missense variant G/A snv 0.700 0
dbSNP: rs193922166
rs193922166
COL1A2
1 1.000 0.120 7 94427004 splice acceptor variant A/- delins 0.700 0
dbSNP: rs193922167
rs193922167
COL1A2
1 1.000 0.120 7 94427639 frameshift variant C/- delins 0.700 0
dbSNP: rs193922168
rs193922168
COL1A2
1 1.000 0.120 7 94427714 missense variant G/C snv 0.700 0
dbSNP: rs193922173
rs193922173
COL1A2
1 1.000 0.120 7 94408220 missense variant G/A snv 0.700 0