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: rs1556128043
rs1556128043
PHEX ; PTCHD1-AS
1.000 0.200 X 22212906 frameshift variant TT/- delins
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556138590
rs1556138590
PHEX ; PTCHD1-AS
1.000 0.200 X 22221675 frameshift variant TT/- delins
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556151004
rs1556151004
PHEX ; PTCHD1-AS
1.000 0.200 X 22227498 splice region variant TCT/- del
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1064793956
rs1064793956
PHEX
1.000 0.200 X 22090444 frameshift variant TC/- delins
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs193922454
rs193922454
PHEX
1.000 0.200 X 22133626 splice donor variant T/G snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1400504292
rs1400504292
PHEX ; PTCHD1-AS
1.000 0.200 X 22221719 stop gained T/C;G snv 3.8E-05
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs771208171
rs771208171
PHEX
1.000 0.200 X 22077660 stop gained T/C;G snv 1.1E-05 9.5E-06
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
1.000 0.200 X 22212922 missense variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 1.000 8 1997 2000
dbSNP: rs1556014287
rs1556014287
PHEX
1.000 0.200 X 22047115 missense variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 1.000 8 1997 2000
dbSNP: rs1556206403
rs1556206403
PHEX ; PTCHD1-AS
1.000 0.200 X 22247948 missense variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.800 1.000 8 1997 2000
dbSNP: rs267606945
rs267606945
PHEX
1.000 0.200 X 22094005 missense variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 1.000 8 1997 2000
dbSNP: rs1085308012
rs1085308012
PHEX
1.000 0.200 X 22133586 missense variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556020485
rs1556020485
PHEX
1.000 0.200 X 22076480 splice region variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556020752
rs1556020752
PHEX
1.000 0.200 X 22077506 missense variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556023505
rs1556023505
PHEX
1.000 0.200 X 22090472 missense variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556030465
rs1556030465
PHEX
1.000 0.200 X 22114500 missense variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556128253
rs1556128253
PHEX ; PTCHD1-AS
1.000 0.200 X 22212960 splice donor variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556135242
rs1556135242
PHEX ; PTCHD1-AS
1.000 0.200 X 22219041 missense variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs193922456
rs193922456
PHEX ; PTCHD1-AS
1.000 0.200 X 22226492 missense variant T/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs137853268
rs137853268
PHEX
1.000 0.200 X 22094080 stop gained T/A snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556020460
rs1556020460
PHEX
1.000 0.200 X 22076453 missense variant T/A snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556026027
rs1556026027
PHEX
1.000 0.200 X 22099094 missense variant T/A snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556020474
rs1556020474
PHEX
1.000 0.200 X 22076462 frameshift variant T/- del
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556029516
rs1556029516
PHEX
1.000 0.200 X 22111520 frameshift variant T/- delins
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs886041631
rs886041631
PHEX ; PTCHD1-AS
1.000 0.200 X 22247893 frameshift variant T/- delins
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0