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: rs1333049
rs1333049
CDKN2B-AS1
21 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.720 1.000 2 2009 2016
dbSNP: rs9521634
rs9521634
COL4A1
1 13 110181552 intron variant T/A;C snv 0.710 1.000 2 2018 2018
dbSNP: rs10401969
rs10401969
SUGP1
23 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs10455872
rs10455872
LPA
12 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.700 1.000 1 2014 2014
dbSNP: rs1122608
rs1122608
SMARCA4
8 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.710 1.000 1 2014 2014
dbSNP: rs11240065
rs11240065
LINC00624
1 1 147468451 intron variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs11957829
rs11957829
LOC100505841
2 1.000 0.080 5 122179500 intron variant A/G snv 0.18 0.19 0.700 1.000 1 2018 2018
dbSNP: rs11984041
rs11984041
HDAC9
2 0.925 0.080 7 18992312 intron variant C/T snv 0.13 0.830 1.000 1 2012 2015
dbSNP: rs12037987
rs12037987
WNT2B
2 1 112500200 intron variant T/C snv 8.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs12291066
rs12291066
MICAL2
1 11 12213613 intron variant G/A snv 3.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs12369179
rs12369179
ZCCHC8
16 0.851 0.120 12 122479003 intron variant C/T snv 5.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs12579302
rs12579302
ATP2B1
19 0.851 0.120 12 89656726 intron variant A/G snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs12932445
rs12932445
ZFHX3
2 0.925 0.080 16 73035989 intron variant T/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs13114738
rs13114738
SLC39A8
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs13168506
rs13168506
TGFBI
1 5 136060763 intron variant A/G snv 0.57 0.700 1.000 1 2015 2015
dbSNP: rs1333048
rs1333048
CDKN2B-AS1
10 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs13407662
rs13407662
ASB3
1 2 53555422 intron variant C/T snv 4.4E-02 0.800 1.000 1 2012 2012
dbSNP: rs145067756
rs145067756
UBE2Z
1 17 48923631 intron variant -/AAACAATGTCACAG;AAAGAATGTCACAG;AAAGAATGTCGCAG;AATGTCACAG;AGAGAATGTCACAG delins 0.40 0.700 1.000 1 2011 2011
dbSNP: rs148158062
rs148158062
LINC00624
1 1 147468451 intron variant -/GTTCCTTC delins 0.700 1.000 1 2011 2011
dbSNP: rs161802
rs161802
PARK7
1 1 7982766 intron variant G/T snv 0.25 0.800 1.000 1 2014 2014
dbSNP: rs16867253
rs16867253
GRHL1
7 0.851 0.120 2 9956965 intron variant G/T snv 5.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs17114036
rs17114036
PLPP3
4 0.851 0.120 1 56497149 intron variant A/G snv 0.11 0.700 1.000 1 2014 2014
dbSNP: rs17347800
rs17347800
HDAC9
1 7 18477656 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs174547
rs174547
FADS1 ; FADS2
23 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs17490626
rs17490626
TSPAN15
5 0.882 0.120 10 69458890 intron variant G/C snv 8.4E-02 0.700 1.000 1 2016 2016