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: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2012 2012
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1805086
rs1805086
MSTN ; C2orf88
3 0.925 0.120 2 190060351 missense variant T/C snv 2.8E-02 7.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs1815739
rs1815739
ACTN3
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs1997623
rs1997623
CAV1
9 0.807 0.160 7 116525306 missense variant A/C;G snv 0.86 0.010 1.000 1 2015 2015
dbSNP: rs3757733
rs3757733
CAV1
4 1.000 0.040 7 116553675 intron variant T/A snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs3782886
rs3782886
BRAP
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.010 < 0.001 1 2017 2017
dbSNP: rs3807987
rs3807987
CAV1
17 0.732 0.280 7 116539780 intron variant G/A snv 7.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs3807992
rs3807992
CAV1
5 0.925 0.080 7 116557191 intron variant G/A snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs7804372
rs7804372
CAV1
19 0.716 0.320 7 116554174 intron variant T/A snv 0.27 0.010 1.000 1 2015 2015