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: rs1149643
rs1149643 		1 1 56163763 intron variant A/T snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs115262049
rs115262049
LOC112268413
1 2 42969554 regulatory region variant A/T snv 5.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs1155311
rs1155311
DLG2
1 11 83778372 intron variant A/T snv 0.66 0.700 1.000 1 2019 2019
dbSNP: rs11601694
rs11601694
C1QTNF4
1 11 47593023 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11605518
rs11605518 		1 11 13248667 intergenic variant A/G snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs11647570
rs11647570
ADCY9
1 16 4087261 intron variant A/G snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs11709060
rs11709060
RUVBL1 ; RUVBL1-AS1
1 3 128075405 intron variant G/A snv 3.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs11724647
rs11724647
GUCY1A1 ; LOC107984032
1 4 155725188 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs11767188
rs11767188
HIBADH
1 7 27532326 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11770148
rs11770148
MAD1L1
1 7 1859811 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11781816
rs11781816
CYP11B2 ; GML
1 8 142916379 intron variant C/T snv 0.33 0.31 0.700 1.000 1 2019 2019
dbSNP: rs117913411
rs117913411
VDR
1 12 47860570 intron variant T/A snv 3.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs11826048
rs11826048 		1 11 103527569 intergenic variant C/T snv 9.6E-02 0.700 1.000 1 2008 2008
dbSNP: rs1186699
rs1186699
USP34
1 2 61435420 intron variant C/A snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs11880800
rs11880800
CRTC1
1 19 18730347 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1191915875
rs1191915875
LIPC
1 15 58563545 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs12324159
rs12324159 		1 15 41170270 regulatory region variant G/A snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs12358504
rs12358504 		1 10 121240352 intergenic variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs12363917
rs12363917
ALG9
1 11 111793677 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1238959756
rs1238959756
CHN2
1 7 29400547 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12731208
rs12731208
PHF13
1 1 6616425 intron variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12758407
rs12758407
HNRNPFP1
1 1 42041342 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1285539239
rs1285539239
COL4A2 ; COL4A2-AS2
1 13 110462280 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12917258
rs12917258
SELENOS
1 15 101273134 intron variant C/G snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs12928131
rs12928131
AXIN1
1 16 292771 non coding transcript exon variant C/T snv 0.12 0.700 1.000 1 2019 2019