Source: CURATED

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: rs61750397
rs61750397
SRD5A2
1.000 0.200 2 31529459 splice acceptor variant T/G snv 2.4E-05 2.8E-05
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.700 1.000 2 1991 1992
dbSNP: rs121434251
rs121434251
SRD5A2
1.000 0.200 2 31529313 missense variant T/C snv 1.5E-04 1.6E-04
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 1.000 22 1992 2017
dbSNP: rs368386747
rs368386747
SRD5A2
1.000 0.200 2 31533671 missense variant T/C snv 8.0E-05 8.4E-05
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 1.000 21 1992 2016
dbSNP: rs1553323036
rs1553323036
SRD5A2
1.000 0.200 2 31526236 missense variant T/C snv
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.700 0
dbSNP: rs763296857
rs763296857
SRD5A2
0.882 0.200 2 31529427 missense variant T/C snv 1.6E-05 2.8E-05
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.710 < 0.001 0 2019 2019
dbSNP: rs1340425455
rs1340425455
SRD5A2
1.000 0.200 2 31533768 splice acceptor variant T/A;C snv
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.700 0
dbSNP: rs772283403
rs772283403
SRD5A2
1.000 0.200 2 31526257 missense variant T/A snv 7.0E-06
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 1.000 16 1992 2005
dbSNP: rs587776567
rs587776567
SRD5A2
1.000 0.200 2 31526208 frameshift variant T/- del
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.700 0
dbSNP: rs145712014
rs145712014
SRD5A2
1.000 0.200 2 31526227 missense variant G/T snv 2.0E-04 6.4E-04
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.700 1.000 16 1992 2005
dbSNP: rs767564684
rs767564684
SRD5A2
1.000 0.200 2 31529385 missense variant G/T snv 1.2E-05 7.0E-06
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 1.000 5 1992 2011
dbSNP: rs121434252
rs121434252
SRD5A2
1.000 0.200 2 31529370 missense variant G/C snv 5.6E-05
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 1.000 16 1992 2005
dbSNP: rs267599353
rs267599353
SRD5A2
0.925 0.200 2 31533741 stop gained G/A;T snv 2.2E-05; 9.5E-05
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.700 1.000 2 2002 2012
dbSNP: rs1200261940
rs1200261940
SRD5A2
1.000 0.200 2 31531384 stop gained G/A;T snv
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.700 0
dbSNP: rs121434244
rs121434244
SRD5A2
1.000 0.200 2 31526225 missense variant G/A snv 2.8E-05
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 1.000 24 1977 2016
dbSNP: rs121434248
rs121434248
SRD5A2
1.000 0.200 2 31529326 stop gained G/A snv 1.6E-05 3.5E-05
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.700 1.000 4 1992 2016
dbSNP: rs9332960
rs9332960
SRD5A2
0.882 0.200 2 31580885 stop gained G/A snv 1.7E-05
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.700 1.000 4 2003 2011
dbSNP: rs1057517829
rs1057517829
SRD5A2
1.000 0.200 2 31531376 missense variant G/A snv 7.0E-06
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.700 0
dbSNP: rs1060499834
rs1060499834
SRD5A2
1.000 0.200 2 31580690 stop gained G/A snv 8.6E-06
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.700 0
dbSNP: rs1553323488
rs1553323488
SRD5A2
1.000 0.200 2 31529322 missense variant G/A snv
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.700 0
dbSNP: rs759561106
rs759561106
SRD5A2
1.000 0.200 2 31533615 missense variant G/A snv 6.3E-06 2.1E-05
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.700 0
dbSNP: rs1553323033
rs1553323033
SRD5A2
1.000 0.200 2 31526232 frameshift variant G/- delins
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.700 0
dbSNP: rs9332964
rs9332964
SRD5A2
0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.810 1.000 22 1992 2019
dbSNP: rs121434246
rs121434246
SRD5A2
0.925 0.200 2 31533704 missense variant C/T snv 2.3E-05 2.1E-05
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 1.000 16 1992 2005
dbSNP: rs121434247
rs121434247
SRD5A2
1.000 0.200 2 31531371 missense variant C/T snv 3.1E-05 1.5E-04
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 1.000 16 1992 2005
dbSNP: rs756853742
rs756853742
SRD5A2
1.000 0.200 2 31529407 missense variant C/T snv 2.4E-05
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 1.000 16 1992 2005