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: rs1344172059
rs1344172059
ABCC8
12 0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
13 0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1553265736
rs1553265736
LMNA
4 0.925 0.040 1 156136080 missense variant G/C snv 0.700 0
dbSNP: rs1559279177
rs1559279177
HJV
5 0.851 0.160 1 146018661 frameshift variant G/- del 0.700 0
dbSNP: rs587782927
rs587782927
DSP
4 0.882 0.080 6 7574084 splice region variant AG/- delins 0.700 0
dbSNP: rs748379243
rs748379243
ERCC8
6 0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs766265889
rs766265889
TTN ; TTN-AS1
11 0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs794728602
rs794728602
LMNA
3 1.000 0.040 1 156115168 missense variant G/A snv 0.700 0
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs121918080
rs121918080
TTR
6 0.827 0.240 18 31595128 missense variant G/A;T snv 2.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs121918090
rs121918090
TTR
8 0.790 0.240 18 31593026 missense variant G/C snv 0.010 1.000 1 2000 2000
dbSNP: rs61195471
rs61195471
LMNA
6 0.827 0.160 1 156134496 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs61661343
rs61661343
LMNA
4 0.851 0.040 1 156130687 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs1303946678
rs1303946678
CYP2D6 ; NDUFA6-DT
3 0.925 0.040 22 42126851 missense variant C/G snv 0.010 1.000 1 2005 2005
dbSNP: rs57045855
rs57045855
LMNA
6 0.882 0.040 1 156134464 missense variant A/G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs899115126
rs899115126
EDNRA
3 0.882 0.080 4 147542603 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs10501920
rs10501920
CNTN5
3 0.882 0.080 11 99622442 intron variant C/G snv 0.14 0.010 1.000 1 2007 2007
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1222174664
rs1222174664
SLCO6A1
5 0.827 0.280 5 102477801 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2549513
rs2549513
MAF
4 0.851 0.080 16 79516830 downstream gene variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 1.000 1 2007 2007
dbSNP: rs499818
rs499818 		4 0.851 0.080 6 13332235 upstream gene variant G/A snv 0.21 0.010 1.000 1 2007 2007
dbSNP: rs740363
rs740363
HSPA12A
5 0.851 0.080 10 116816095 intron variant G/A snv 0.40 0.010 1.000 1 2007 2007
dbSNP: rs958546
rs958546
LRRC63
3 0.882 0.040 13 46259582 intron variant G/C snv 0.29 0.010 1.000 1 2007 2007