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: rs2068834
rs2068834
ZNF512
10 0.925 0.120 2 27616672 intron variant T/C snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs3810291
rs3810291
ZC3H4
9 19 47065746 3 prime UTR variant G/A snv 0.50 0.700 1.000 3 2010 2014
dbSNP: rs4788099
rs4788099
TUFM ; MIR4721
3 16 28844406 intron variant A/G snv 0.35 0.34 0.700 1.000 1 2013 2013
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.700 1.000 1 2013 2013
dbSNP: rs1514175
rs1514175
TNNI3K ; FPGT-TNNI3K ; LRRC53
4 1.000 0.080 1 74525960 intron variant A/G snv 0.48 0.700 1.000 3 2010 2013
dbSNP: rs113313252
rs113313252
TNNI3K ; FPGT-TNNI3K ; LRRC53
2 1 74534327 intron variant -/T delins 0.700 1.000 1 2013 2013
dbSNP: rs12142020
rs12142020
TNNI3K ; FPGT-TNNI3K ; LRRC53
2 1 74534327 intron variant A/T snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs201167096
rs201167096
TNNI3K ; FPGT-TNNI3K ; LRRC53
2 1 74534327 intron variant -/T delins 0.700 1.000 1 2013 2013
dbSNP: rs987237
rs987237
TFAP2B
10 0.925 0.120 6 50835337 intron variant A/G snv 0.17 0.700 1.000 3 2010 2013
dbSNP: rs2272903
rs2272903
TFAP2B
2 6 50818858 5 prime UTR variant G/A;C snv 0.15 0.700 1.000 1 2013 2013
dbSNP: rs4646949
rs4646949
TAF11 ; UHRF1BP1
3 6 34877672 3 prime UTR variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs308971
rs308971
SYN2
3 3 12075120 intron variant G/A snv 0.82 0.800 1.000 2 2012 2012
dbSNP: rs13273088
rs13273088
SULF1
3 8 69581739 intron variant G/A snv 0.81 0.700 1.000 1 2012 2012
dbSNP: rs149954327
rs149954327
STON1 ; STON1-GTF2A1L
2 2 48582005 missense variant T/G snv 6.8E-05 1.2E-04 0.700 1.000 1 2013 2013
dbSNP: rs4929949
rs4929949
STK33
4 1.000 0.080 11 8583046 intron variant T/C snv 0.46 0.700 1.000 2 2010 2013
dbSNP: rs10769908
rs10769908
STK33
4 11 8462542 intron variant C/T snv 0.55 0.700 1.000 1 2009 2009
dbSNP: rs5996074
rs5996074
SREBF2
3 22 41840333 intron variant G/A snv 0.74 0.700 1.000 1 2013 2013
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 2 2010 2013
dbSNP: rs7359397
rs7359397
SH2B1
5 1.000 0.040 16 28874338 upstream gene variant C/T snv 0.28 0.700 1.000 2 2010 2013
dbSNP: rs7498665
rs7498665
SH2B1
9 0.925 0.120 16 28871920 missense variant A/G;T snv 0.35 0.700 1.000 2 2009 2009
dbSNP: rs10913469
rs10913469
SEC16B ; CRYZL2P-SEC16B
7 1.000 0.080 1 177944384 intron variant T/C snv 0.22 0.700 1.000 1 2009 2009
dbSNP: rs591120
rs591120
SEC16B ; CRYZL2P-SEC16B
3 1 177933618 missense variant G/A;C snv 4.0E-06; 0.42 0.700 1.000 1 2013 2013
dbSNP: rs2745353
rs2745353
RSPO3
5 6 127131790 intron variant C/T snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs2967951
rs2967951
ROPN1L ; LOC105369214
3 5 10463995 intron variant C/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs2287019
rs2287019
QPCTL
7 1.000 0.080 19 45698914 intron variant C/T snv 0.17 0.16 0.700 1.000 2 2010 2013