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: rs1733724
rs1733724
LNCAROD
2 10 52464217 intron variant A/G snv 0.82 0.700 1.000 2 2010 2016
dbSNP: rs3825214
rs3825214
TBX5
8 0.851 0.080 12 114357638 intron variant G/A snv 0.77 0.700 1.000 2 2010 2016
dbSNP: rs10488821
rs10488821
MPPED2
1 11 30480628 intron variant A/G snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs10853525
rs10853525
SETBP1
1 18 44856687 intron variant C/T snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs10865879
rs10865879
EXOG
1 3 38535871 intron variant A/C snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs11079159
rs11079159
HLF
1 17 55296189 intron variant A/T snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs11708996
rs11708996
SCN5A
6 0.925 0.120 3 38592432 intron variant G/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs11710077
rs11710077
SCN5A
3 3 38616408 intron variant A/T snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs11848785
rs11848785
SIPA1L1
2 14 71590638 intron variant G/A snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs12764182
rs12764182
LRMDA
1 10 76131488 intron variant T/G snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs12880291
rs12880291
SIPA1L1
1 14 71417850 intron variant G/T snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs13314892
rs13314892
MITF
1 3 69745901 intron variant A/G snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs1408224
rs1408224
LRCH1
1 13 46641083 intron variant G/A snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs1562782
rs1562782
AMPD3 ; CAND1.11
1 11 10321164 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs17020136
rs17020136
HEATR5B
2 2 37020872 intron variant T/C snv 0.24 0.18 0.700 1.000 1 2016 2016
dbSNP: rs174577
rs174577
FADS2
13 1.000 0.080 11 61837342 intron variant C/A snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs1886512
rs1886512
KLF12
2 13 73946049 intron variant T/A snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs1991601
rs1991601
WIPF1
1 2 174603041 intron variant T/C snv 0.79 0.700 1.000 1 2016 2016
dbSNP: rs2051211
rs2051211
EXOG
1 3 38518258 intron variant A/C;G snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs2207790
rs2207790
NFIA
1 1 61432295 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2242285
rs2242285
LRIG1 ; SLC25A26
2 3 66381178 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs242562
rs242562
MAPT
2 1.000 0.040 17 45949373 intron variant G/A snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs2997447
rs2997447
TRIM63
1 1 26060932 intron variant G/A snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs3770770
rs3770770
STRN
1 2 36965723 intron variant C/T snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs3777755
rs3777755
HIVEP1
1 6 12159466 intron variant C/T snv 0.23 0.700 1.000 1 2016 2016