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: rs1434282
rs1434282
LINC01221
6 1 199041592 non coding transcript exon variant C/T snv 0.76 0.700 1.000 3 2016 2019
dbSNP: rs3811444
rs3811444
TRIM58
12 1 247876149 missense variant C/T snv 0.31 0.26 0.700 1.000 3 2012 2019
dbSNP: rs1175550
rs1175550
SMIM1
5 1 3774964 intron variant A/G snv 0.31 0.700 1.000 2 2016 2019
dbSNP: rs1569419
rs1569419
PRDM16
5 1 3080038 intron variant T/C snv 0.73 0.700 1.000 2 2016 2019
dbSNP: rs17534202
rs17534202 		7 1.000 0.120 1 203312047 downstream gene variant G/C snv 0.40 0.700 1.000 2 2016 2019
dbSNP: rs3767844
rs3767844
PROX1
1 1 214007378 intron variant A/G snv 0.35 0.700 1.000 2 2016 2019
dbSNP: rs760077
rs760077
MTX1 ; THBS3
8 0.925 0.120 1 155208991 missense variant T/A snv 0.36 0.700 1.000 2 2016 2019
dbSNP: rs10494964
rs10494964
LOC105372912
2 1 213793544 intron variant T/C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs1052571
rs1052571
CASP9
4 0.882 0.080 1 15524118 missense variant G/A snv 0.50 0.59 0.700 1.000 1 2019 2019
dbSNP: rs10779596
rs10779596 		1 1 212903562 downstream gene variant G/T snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs10799544
rs10799544
URB2
1 1 229648978 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10909942
rs10909942
PRDM16
1 1 3402205 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10910476
rs10910476 		2 1 234599210 regulatory region variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11122219
rs11122219 		1 1 231067843 intergenic variant C/T snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs11211480
rs11211480
TAL1
4 1 47227548 non coding transcript exon variant A/G snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs11247763
rs11247763
DNAJC8
1 1 28217607 intron variant G/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs1127818
rs1127818
MTFR1L ; LOC646471
1 1 25820023 5 prime UTR variant G/C snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs11583750
rs11583750 		1 1 47564678 regulatory region variant G/A snv 6.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs116525159
rs116525159
PRDM16
1 1 3188408 intron variant G/A snv 3.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs12071510
rs12071510
PGBD2
1 1 248877988 intergenic variant G/T snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs12121609
rs12121609
IGSF8
1 1 160101153 upstream gene variant C/T snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs12126043
rs12126043 		1 1 147818675 intergenic variant G/A snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs12128198
rs12128198
ADGRL4
1 1 78979853 intron variant C/T snv 7.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs12133576
rs12133576
DR1
3 1.000 0.040 1 93350843 intron variant A/G snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs12136414
rs12136414
FCRLA
1 1 161708632 intron variant T/C snv 0.41 0.700 1.000 1 2019 2019