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: rs2252865
rs2252865
RERE
6 0.851 0.040 1 8362616 intron variant T/C snv 0.72 0.800 1.000 1 2013 2013
dbSNP: rs2281597
rs2281597
CSMD2
1 1.000 0.040 1 33894257 intron variant G/C snv 0.82 0.800 1.000 1 2008 2008
dbSNP: rs2587695
rs2587695
CFAP221
1 1.000 0.040 2 119564241 intron variant A/G snv 0.58 0.800 1.000 1 2008 2008
dbSNP: rs2677744
rs2677744
MAN2A2
1 1.000 0.040 15 90907211 non coding transcript exon variant G/A snv 0.54 0.800 1.000 1 2008 2008
dbSNP: rs2721800
rs2721800
MPP6
5 0.851 0.040 7 24652933 intron variant G/A;C;T snv 0.800 1.000 1 2013 2013
dbSNP: rs2799573
rs2799573
CACNB2
5 0.851 0.040 10 18312999 intron variant T/C snv 0.20 0.800 1.000 1 2013 2013
dbSNP: rs2823819
rs2823819
MIR99AHG
1 1.000 0.040 21 16455971 intron variant A/G snv 0.22 0.800 1.000 1 2010 2010
dbSNP: rs3132581
rs3132581
MUCL3 ; SFTA2 ; HCG21
5 0.851 0.040 6 30945681 intron variant G/A snv 9.3E-02 0.800 1.000 1 2013 2013
dbSNP: rs4650608
rs4650608 		7 0.851 0.040 1 78772330 intergenic variant T/C snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs5016282
rs5016282
GRM5
1 1.000 0.040 11 89008492 intron variant A/G snv 0.800 1.000 1 2011 2011
dbSNP: rs522958
rs522958
LOC105369710
1 1.000 0.040 12 28075634 intergenic variant G/A snv 0.65 0.800 1.000 1 2008 2008
dbSNP: rs548181
rs548181
STT3A ; FEZ1 ; STT3A-AS1
5 0.851 0.040 11 125591814 5 prime UTR variant A/G snv 0.83 0.800 1.000 1 2013 2013
dbSNP: rs6694545
rs6694545 		5 0.851 0.040 1 29964421 intergenic variant A/G snv 0.58 0.800 1.000 1 2013 2013
dbSNP: rs7004633
rs7004633
LOC105375630
5 0.851 0.040 8 88748082 intron variant A/G snv 0.28 0.800 1.000 1 2013 2013
dbSNP: rs7164335
rs7164335
ITGA11
1 1.000 0.040 15 68422693 intron variant A/C;G snv 0.800 1.000 1 2008 2008
dbSNP: rs7175404
rs7175404
LOC105370982
1 1.000 0.040 15 93493459 intron variant A/G snv 0.26 0.800 1.000 1 2008 2008
dbSNP: rs7914558
rs7914558
CNNM2
5 0.851 0.040 10 103016151 intron variant G/A snv 0.40 0.800 1.000 1 2013 2013
dbSNP: rs7995215
rs7995215
GPC6
1 1.000 0.040 13 93756253 intron variant A/G snv 0.68 0.800 1.000 1 2008 2008
dbSNP: rs8074751
rs8074751
CEP112
1 1.000 0.040 17 65646424 intron variant G/A snv 0.70 0.800 1.000 1 2010 2010
dbSNP: rs8321
rs8321
ZNRD1
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.800 1.000 1 2013 2013
dbSNP: rs864643
rs864643
MOBP
1 1.000 0.040 3 39514089 3 prime UTR variant A/G snv 0.32 0.800 1.000 1 2008 2008
dbSNP: rs9275524
rs9275524 		7 0.807 0.160 6 32707332 upstream gene variant T/C snv 0.58 0.800 1.000 1 2013 2013
dbSNP: rs9297357
rs9297357
ZFPM2 ; LOC105375695
5 0.851 0.040 8 105130105 intron variant C/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs9371601
rs9371601
SYNE1
8 0.790 0.120 6 152469438 intron variant G/T snv 0.46 0.800 1.000 1 2013 2013
dbSNP: rs9951150
rs9951150 		5 0.851 0.040 18 55153893 intergenic variant A/G;T snv 0.800 1.000 1 2013 2013