Source: ALL

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: rs750337015
rs750337015
CYP21A2
1.000 0.200 6 32040051 missense variant T/C snv 4.0E-06
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs751026211
rs751026211
CYP21A2 ; SKIV2L
1.000 6 31961605 stop gained G/A snv 1.6E-05 2.1E-05
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.700 0
dbSNP: rs754405067
rs754405067
CYP21A2 ; NEU1
1.000 0.160 6 31862662 frameshift variant CA/- delins
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.700 0
dbSNP: rs765001985
rs765001985
CYP21A2
1.000 0.200 6 32040167 missense variant C/T snv 4.1E-06
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs767333157
rs767333157
CYP21A2 ; TNXB
1.000 0.200 6 32040952 missense variant C/T snv 2.1E-03 7.3E-04
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs768503878
rs768503878
CYP21A2 ; SKIV2L
1.000 6 31961354 stop gained C/T snv 1.9E-05 2.1E-05
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.700 0
dbSNP: rs772900496
rs772900496
CYP21A2
1.000 0.200 6 32040529 missense variant C/T snv 2.1E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs781763471
rs781763471
CYP21A2 ; SKIV2L
1.000 6 31967002 splice acceptor variant A/G snv 1.2E-05 7.0E-06
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		0.700 0
dbSNP: rs864309513
rs864309513
CYP21A2 ; NEU1
0.925 0.320 6 31861452 splice acceptor variant T/C;G snv
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		0.700 0
dbSNP: rs864309513
rs864309513
CYP21A2 ; NEU1
0.925 0.320 6 31861452 splice acceptor variant T/C;G snv
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.700 0
dbSNP: rs886038207
rs886038207
CYP21A2
0.925 0.200 6 32038580 frameshift variant TC/- delins
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.700 0
dbSNP: rs886038207
rs886038207
CYP21A2
0.925 0.200 6 32038580 frameshift variant TC/- delins
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs957886272
rs957886272
CYP21A2
1.000 0.200 6 32039124 missense variant T/A;G snv 4.1E-06
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 0
dbSNP: rs776989258
rs776989258
CYP21A2 ; TNXB
0.807 0.280 6 32041093 missense variant C/G;T snv 5.5E-04
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.820 1.000 34 1985 2016
dbSNP: rs7769409
rs7769409
CYP21A2
0.882 0.200 6 32040535 missense variant C/T snv 7.0E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.810 1.000 26 1985 2016
dbSNP: rs72552758
rs72552758
CYP21A2 ; TNXB
0.882 0.200 6 32040919 missense variant G/A snv 1.5E-05 3.5E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 21 1985 2016
dbSNP: rs1296268275
rs1296268275
CYP21A2
1.000 0.200 6 32039142 missense variant C/A;T snv
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs1370167869
rs1370167869
CYP21A2 ; TNXB
1.000 0.200 6 32040925 missense variant C/T snv 1.5E-05 4.9E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs143240527
rs143240527
CYP21A2
1.000 0.200 6 32039593 missense variant A/G;T snv 4.9E-04
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs151344504
rs151344504
CYP21A2 ; TNXB
0.925 0.240 6 32040926 missense variant G/A snv 7.0E-06
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs201552310
rs201552310
CYP21A2
0.925 0.200 6 32040140 missense variant G/A;C snv 4.1E-06; 8.1E-06
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.800 1.000 20 1985 2016
dbSNP: rs547552654
rs547552654
CYP21A2
0.882 0.200 6 32039165 missense variant A/C snv
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 20 1985 2016
dbSNP: rs550051210
rs550051210
CYP21A2
0.882 0.200 6 32039118 missense variant C/A;T snv 7.0E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.710 1.000 20 1985 2016
dbSNP: rs574370139
rs574370139
CYP21A2
1.000 0.200 6 32040536 missense variant G/A snv 1.7E-04 4.9E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016
dbSNP: rs63749090
rs63749090
CYP21A2
0.851 0.280 6 32038468 missense variant G/A snv 2.1E-05
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.700 1.000 20 1985 2016