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: rs1057520044
rs1057520044
1 1.000 0.080 10 121498597 missense variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs12188164
rs12188164
1 1.000 0.080 5 428121 intron variant C/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs12226919
rs12226919
1 1.000 0.080 12 10997434 missense variant G/T snv 0.42 0.30 0.010 1.000 1 2014 2014
dbSNP: rs12226920
rs12226920
1 1.000 0.080 12 10997447 missense variant G/T snv 0.42 0.29 0.010 1.000 1 2014 2014
dbSNP: rs1224606327
rs1224606327
1 1.000 0.080 10 121485399 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12883884
rs12883884
1 1.000 0.080 14 70050466 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1350033384
rs1350033384
1 1.000 0.080 22 40409697 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs142511858
rs142511858
1 1.000 0.080 11 16341047 missense variant C/T snv 1.3E-03 6.8E-04 0.010 1.000 1 2006 2006
dbSNP: rs2282851
rs2282851
1 1.000 0.080 6 33312532 intron variant C/T snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs2917454
rs2917454
1 1.000 0.080 10 77132657 intron variant T/C snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs373496046
rs373496046
1 1.000 0.080 4 1803761 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs3810831
rs3810831
1 1.000 0.080 2 86791424 5 prime UTR variant A/G snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs38850
rs38850
MET
1 1.000 0.080 7 116697595 intron variant G/A snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs42336
rs42336
1 1.000 0.080 7 116801535 downstream gene variant A/G snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs4504543
rs4504543
1 1.000 0.080 7 36643290 intron variant T/C snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs4532099
rs4532099
1 1.000 0.080 3 72266805 intron variant T/C snv 0.82 0.010 1.000 1 2012 2012
dbSNP: rs6907229
rs6907229
1 1.000 0.080 6 73174426 intron variant C/T snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs7528947
rs7528947
1 1.000 0.080 1 192366662 3 prime UTR variant A/C;G;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs761012674
rs761012674
1 1.000 0.080 10 121503884 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs765241522
rs765241522
1 1.000 0.080 10 121503799 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs768918396
rs768918396
1 1.000 0.080 8 38419732 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs9658281
rs9658281
1 1.000 0.080 12 117329773 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1060499550
rs1060499550
1 1.000 0.080 9 106926891 frameshift variant TG/A delins 0.700 0
dbSNP: rs1060499551
rs1060499551
1 1.000 0.080 9 106928174 frameshift variant A/- delins 0.700 0
dbSNP: rs28928868
rs28928868
2 0.925 0.120 4 1806164 missense variant G/C;T snv 4.0E-06 0.700 1.000 4 2000 2010