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: rs2431820
rs2431820 		1 1.000 0.080 19 10024608 downstream gene variant T/C snv 8.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs10417403
rs10417403
C3P1
1 1.000 0.080 19 10061840 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs3745264
rs3745264
RAVER1
1 1.000 0.080 19 10318890 intron variant C/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs7507634
rs7507634
RAVER1
1 1.000 0.080 19 10325886 intron variant C/T snv 9.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs2304240
rs2304240
ICAM3
4 0.882 0.200 19 10338716 synonymous variant A/G snv 0.81 0.85 0.700 1.000 1 2013 2013
dbSNP: rs280519
rs280519
TYK2
10 0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs8112449
rs8112449
CDC37
2 0.925 0.160 19 10409388 intron variant G/A snv 0.31 0.700 1.000 1 2013 2013
dbSNP: rs7256672
rs7256672
PDE4A
1 1.000 0.080 19 10468798 3 prime UTR variant T/G snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2003 2003
dbSNP: rs1529711
rs1529711
CARM1
4 1.000 0.080 19 10912758 intron variant C/T snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs989307060
rs989307060
LDLR
3 1.000 0.080 19 11089263 upstream gene variant C/G snv 2.8E-05 0.700 0
dbSNP: rs1555800611
rs1555800611
LDLR
3 1.000 0.080 19 11089319 upstream gene variant GGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCC/- delins 0.700 0
dbSNP: rs1555800620
rs1555800620
LDLR
1 1.000 0.080 19 11089356 upstream gene variant CTCCTCC/TG delins 0.700 0
dbSNP: rs878854023
rs878854023
LDLR
3 1.000 0.080 19 11089361 upstream gene variant C/T snv 0.700 0
dbSNP: rs879254363
rs879254363
LDLR
1 1.000 0.080 19 11089363 upstream gene variant CTT/- delins 0.700 1.000 1 1998 1998
dbSNP: rs1555800629
rs1555800629
LDLR
1 1.000 0.080 19 11089377 upstream gene variant G/A snv 0.700 0
dbSNP: rs879254364
rs879254364
LDLR
1 1.000 0.080 19 11089393 upstream gene variant C/T snv 0.700 1.000 1 2004 2004
dbSNP: rs879254365
rs879254365
LDLR
1 1.000 0.080 19 11089394 upstream gene variant AC/TTCTGCAAACTCCT delins 0.700 1.000 1 2011 2011
dbSNP: rs879254367
rs879254367
LDLR
1 1.000 0.080 19 11089397 upstream gene variant C/T snv 0.700 1.000 3 1999 2006
dbSNP: rs1555800631
rs1555800631
LDLR
1 1.000 0.080 19 11089398 upstream gene variant C/G snv 0.700 0
dbSNP: rs1555800632
rs1555800632
LDLR
1 1.000 0.080 19 11089399 upstream gene variant A/G snv 0.700 0
dbSNP: rs879254370
rs879254370
LDLR
3 1.000 0.080 19 11089407 upstream gene variant C/G;T snv 0.700 0
dbSNP: rs875989887
rs875989887
LDLR
3 0.925 0.080 19 11089409 upstream gene variant C/A;G;T snv 0.700 1.000 2 2009 2011
dbSNP: rs879254371
rs879254371
LDLR
1 1.000 0.080 19 11089410 upstream gene variant C/A;G snv 0.700 1.000 1 2007 2007
dbSNP: rs387906307
rs387906307
LDLR
2 0.925 0.080 19 11089411 upstream gene variant T/- del 0.700 1.000 1 2003 2003