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: rs765191836
rs765191836
SRD5A3 ; SRD5A3-AS1
1.000 4 55367628 stop gained G/A;T snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2010 2017
dbSNP: rs765191836
rs765191836
SRD5A3 ; SRD5A3-AS1
1.000 4 55367628 stop gained G/A;T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2010 2017
dbSNP: rs398124401
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		0.700 1.000 2 2010 2012
dbSNP: rs267607092
rs267607092
SRD5A3 ; SRD5A3-AS1
1.000 0.080 4 55364198 stop gained C/A snv
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C3277940
Disease: Generalized hypertrichosis
Generalized hypertrichosis 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0
dbSNP: rs267607094
rs267607094
SRD5A3
1.000 0.080 4 55346365 stop gained C/A snv
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		0.700 0
dbSNP: rs267607095
rs267607095
SRD5A3 ; SRD5A3-AS1
1.000 0.080 4 55364133 stop gained C/T snv
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0