Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387907281
rs387907281
ATP1A3
0.752 0.280 19 41970284 missense variant C/T snv
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.070 1.000 7 2013 2018
dbSNP: rs12979860
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.030 1.000 3 2011 2017
dbSNP: rs398122887
rs398122887
ATP1A3
0.790 0.280 19 41967744 missense variant C/G;T snv
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.030 1.000 3 2014 2018
dbSNP: rs80356537
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.030 1.000 3 2015 2016
dbSNP: rs536681257
rs536681257
ATP1A3
0.882 0.080 19 41970298 missense variant A/C;T snv
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.020 1.000 2 2013 2016
dbSNP: rs1064797245
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.010 1.000 1 2016 2016
dbSNP: rs1345986424
rs1345986424
SLC2A1
0.851 0.160 1 42943291 stop gained C/A;T snv
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.010 1.000 1 2015 2015
dbSNP: rs143141578
rs143141578
NR0B1
0.925 0.080 X 30308764 missense variant G/C snv 2.3E-04 3.9E-04
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.010 1.000 1 2006 2006
dbSNP: rs387907373
rs387907373
NR0B1
0.925 0.080 X 30304718 missense variant C/A snv
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.010 1.000 1 2012 2012
dbSNP: rs557052809
rs557052809
ATP1A3
0.827 0.160 19 41975629 missense variant C/A;T snv
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.010 1.000 1 2018 2018
dbSNP: rs606231436
rs606231436
ATP1A3
0.882 0.080 19 41970536 missense variant A/G snv
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.010 1.000 1 2018 2018
dbSNP: rs782461379
rs782461379
ATP1A3
0.882 0.120 19 41988511 missense variant G/A;C snv 8.0E-06; 4.0E-06 7.0E-06
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.010 1.000 1 2015 2015
dbSNP: rs8099917
rs8099917 		0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.010 1.000 1 2012 2012