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: rs111419738
rs111419738
1 1.000 0.040 10 24596856 splice acceptor variant C/T snv 5.2E-03 2.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs149242678
rs149242678
1 1.000 0.040 8 17002089 5 prime UTR variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs229038
rs229038
1 1.000 0.040 21 26833110 downstream gene variant C/G snv 0.90 0.010 1.000 1 2015 2015
dbSNP: rs2738
rs2738
1 1.000 0.040 21 26836585 3 prime UTR variant C/A snv 7.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs4654388
rs4654388
1 1.000 0.040 1 29071278 3 prime UTR variant A/G snv 9.2E-03 0.010 1.000 1 2010 2010
dbSNP: rs551639398
rs551639398
1 1.000 0.040 9 18636011 missense variant C/G snv 1.9E-04 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs6184
rs6184
GHR
1 1.000 0.040 5 42719242 missense variant C/A snv 4.0E-02 1.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs79176051
rs79176051
1 1.000 0.040 3 192170665 intron variant A/G snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1793953
rs1793953
2 0.925 0.080 12 47999743 non coding transcript exon variant G/A snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs2162540
rs2162540
2 0.925 0.040 10 121592622 intron variant C/T snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs372127537
rs372127537
2 0.925 0.040 15 49485006 3 prime UTR variant T/- del 8.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs3825393
rs3825393
2 0.925 0.120 12 109445569 missense variant T/C;G snv 0.64; 1.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs13317
rs13317
3 0.882 0.120 8 38411996 3 prime UTR variant T/C snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs6182
rs6182
GHR
3 0.882 0.120 5 42718826 missense variant G/T snv 4.0E-02 1.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs121918504
rs121918504
9 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.700 0
dbSNP: rs1554196416
rs1554196416
15 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
dbSNP: rs879253753
rs879253753
19 0.851 0.280 16 89280526 frameshift variant -/T delins 0.700 0
dbSNP: rs1554888939
rs1554888939
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs1554700718
rs1554700718
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0