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: rs9989419
rs9989419 		11 0.882 0.120 16 56951227 regulatory region variant A/G snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs9988450
rs9988450
DOCK7
3 1 62458777 non coding transcript exon variant C/T snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs9987289
rs9987289
LOC157273
10 1.000 0.040 8 9325848 non coding transcript exon variant A/G snv 0.87 0.800 1.000 6 2010 2019
dbSNP: rs995000
rs995000
DOCK7
4 1 62641855 intron variant C/T snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs9913813
rs9913813
LOC105371790
4 17 44277325 intron variant G/A snv 1.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs9913758
rs9913758
MYOCD ; LOC100128006
4 17 12763404 synonymous variant C/G;T snv 6.5E-03; 4.1E-06 2.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs9912177
rs9912177
ITGB3
3 17 47285851 intron variant A/T snv 6.4E-03 0.700 1.000 1 2012 2012
dbSNP: rs984976
rs984976
ANKDD1B
2 5 75615045 intron variant A/G snv 0.55 0.700 1.000 2 2018 2019
dbSNP: rs9839959
rs9839959
PFKFB4 ; UCN2
2 3 48562465 3 prime UTR variant G/A snv 6.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs9838771
rs9838771
TGFBR2 ; LOC105377016
3 3 30657290 intron variant G/A snv 2.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs981844
rs981844
RNF175 ; LOC105377499
1 4 153730876 intron variant A/G snv 0.18 0.700 1.000 1 2014 2014
dbSNP: rs976058
rs976058
TMPRSS11E
1 4 68475769 intron variant T/C snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs9658736
rs9658736
FAS
3 10 89004160 intron variant T/C snv 9.4E-03 0.700 1.000 1 2012 2012
dbSNP: rs9658465
rs9658465
NOS1
3 12 117247093 intron variant T/G snv 2.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs9658449
rs9658449
NOS1
2 12 117252327 intron variant A/G snv 3.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs9658292
rs9658292
NOS1
5 12 117318980 intron variant G/C snv 9.4E-04 0.700 1.000 1 2012 2012
dbSNP: rs9658150
rs9658150
PPARD
3 6 35420123 splice region variant G/A snv 3.6E-05 5.6E-05 0.700 1.000 1 2012 2012
dbSNP: rs9646133
rs9646133
LOC101928075
1 14 70629627 intron variant G/T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.800 1.000 6 2010 2019
dbSNP: rs9622186
rs9622186 		6 22 35377961 upstream gene variant A/G snv 3.7E-03 0.700 1.000 1 2012 2012
dbSNP: rs9590177
rs9590177
ABCC4
2 13 95083956 intron variant C/T snv 3.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs9584224
rs9584224
GPC6
2 13 94403472 3 prime UTR variant G/A snv 4.0E-02 0.700 1.000 1 2012 2012
dbSNP: rs9534275
rs9534275
BRCA2
7 0.851 0.080 13 32366208 intron variant C/A snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs9496567
rs9496567
LOC105377911
2 6 100154877 intergenic variant G/A snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs9488822
rs9488822
FRK
3 6 115991730 intron variant A/T snv 0.35 0.800 1.000 2 2010 2013