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: rs3914132
rs3914132
RELN
1 1.000 0.040 7 103886922 intron variant C/A;T snv 0.810 1.000 2 2009 2010
dbSNP: rs1234261
rs1234261
ZNF383
1 1.000 0.040 19 37230070 intron variant C/A;T snv 0.18 0.700 1.000 1 2009 2009
dbSNP: rs1800472
rs1800472
TGFB1
11 0.752 0.360 19 41341955 missense variant G/A snv 2.6E-02 2.3E-02 0.040 1.000 4 2007 2018
dbSNP: rs11327935
rs11327935
COL1A1
2 1.000 0.040 17 50203295 intron variant AA/-;A;AAA delins 0.18 0.010 1.000 1 2011 2011
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1323853167
rs1323853167
TNFSF11
1 1.000 0.040 13 42574312 synonymous variant C/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1352713791
rs1352713791
BMP4 ; MIR5580
1 1.000 0.040 14 53950282 missense variant A/G snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs2073618
rs2073618
TNFRSF11B ; COLEC10
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.010 1.000 1 2015 2015
dbSNP: rs39335
rs39335
RELN
1 1.000 0.040 7 103813122 intron variant T/C snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs39399
rs39399
RELN
2 0.925 0.040 7 103849545 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2008 2008