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: rs1057517981
rs1057517981
PHEX ; PTCHD1-AS
1.000 0.200 X 22247901 missense variant G/A;C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1057521800
rs1057521800
PHEX ; PTCHD1-AS
1.000 0.200 X 22219074 missense variant A/G snv
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: rs1064796928
rs1064796928
PHEX
1.000 0.200 X 22178377 splice donor variant G/A;T snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
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: rs1131691731
rs1131691731
PHEX
1.000 0.200 X 22033124 splice donor variant G/T snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1240767654
rs1240767654
PHEX ; PTCHD1-AS
1.000 0.200 X 22226509 splice donor variant G/A snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1269067103
rs1269067103
PHEX ; PHEX-AS1
1.000 0.200 X 22168394 splice region variant G/C;T snv 5.5E-06
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: rs137853271
rs137853271
PHEX ; PTCHD1-AS
1.000 0.200 X 22212957 stop gained C/A;T snv 5.5E-06
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: rs1556010757
rs1556010757
PHEX
1.000 0.200 X 22033080 frameshift variant -/T delins
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556012055
rs1556012055
PHEX
1.000 0.200 X 22038466 splice region variant C/G snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556012094
rs1556012094
PHEX
1.000 0.200 X 22038536 splice donor variant G/- delins
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556012100
rs1556012100
PHEX
1.000 0.200 X 22038538 splice donor variant G/A;T snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556014263
rs1556014263
PHEX
1.000 0.200 X 22047092 missense variant G/T 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: 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: 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: rs1556020770
rs1556020770
PHEX
1.000 0.200 X 22077540 stop gained G/A snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556020798
rs1556020798
PHEX
1.000 0.200 X 22077582 frameshift variant GAGA/- delins
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556020818
rs1556020818
PHEX
1.000 0.200 X 22077630 synonymous variant A/G snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556023495
rs1556023495
PHEX
1.000 0.200 X 22090444 missense variant C/A snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556023503
rs1556023503
PHEX
1.000 0.200 X 22090469 frameshift variant A/- del
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0