Gene: GML ×
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: rs62525059
rs62525059
GML
4 8 142901545 intron variant G/A snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs6418
rs6418
CYP11B2 ; GML
4 8 142914947 intron variant A/C;G snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs4539
rs4539
CYP11B2 ; GML
4 0.925 0.080 8 142915123 missense variant T/C snv 0.42 0.38 0.050 0.800 5 2000 2010
dbSNP: rs10086846
rs10086846
CYP11B2 ; GML
1 8 142915715 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3802230
rs3802230
CYP11B2 ; GML
3 1.000 0.040 8 142911448 3 prime UTR variant C/A snv 0.63 0.010 1.000 1 2013 2013
dbSNP: rs4536
rs4536
CYP11B2 ; GML
1 8 142914345 synonymous variant C/T snv 0.90 0.94 0.010 1.000 1 2011 2011
dbSNP: rs5310
rs5310
CYP11B2 ; GML
1 8 142914393 synonymous variant G/A snv 1.7E-03 5.9E-03 0.010 1.000 1 2003 2003
dbSNP: rs542092383
rs542092383
CYP11B2 ; GML
1 8 142915741 intron variant A/G snv 3.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs6410
rs6410
CYP11B1 ; GML
1 8 142879589 synonymous variant T/A;C snv 0.58 0.010 1.000 1 2019 2019