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: 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: rs1556023528
rs1556023528
PHEX
1.000 0.200 X 22090502 splice region variant G/A;C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
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: rs267606946
rs267606946
PHEX
1.000 0.200 X 22094009 missense variant G/A snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 1.000 8 1997 2000
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: rs1556024541
rs1556024541
PHEX
1.000 0.200 X 22094082 stop gained G/T snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs866429868
rs866429868
PHEX
1.000 0.200 X 22096976 stop gained C/T snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs193922460
rs193922460
PHEX
1.000 0.200 X 22096988 frameshift variant -/CC delins
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556025314
rs1556025314
PHEX
1.000 0.200 X 22097039 splice donor variant G/T snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556025936
rs1556025936
PHEX
1.000 0.200 X 22099003 splice acceptor variant CAG/TCA mnv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556025968
rs1556025968
PHEX
1.000 0.200 X 22099027 inframe deletion AAG/- delins
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: rs1556026033
rs1556026033
PHEX
1.000 0.200 X 22099109 missense variant A/G snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556026042
rs1556026042
PHEX
1.000 0.200 X 22099114 frameshift variant A/- delins
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs886041695
rs886041695
PHEX
1.000 0.200 X 22111466 splice acceptor variant G/A snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556029499
rs1556029499
PHEX
1.000 0.200 X 22111490 stop gained G/A snv
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: rs1556029519
rs1556029519
PHEX
1.000 0.200 X 22111524 missense variant CA/AT mnv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs886039584
rs886039584
PHEX
0.882 0.200 X 22114493 stop gained G/A snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.010 1.000 1 2019 2019
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: rs1556030487
rs1556030487
PHEX
1.000 0.200 X 22114553 frameshift variant A/- del
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556030502
rs1556030502
PHEX
1.000 0.200 X 22114581 stop gained G/T snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs1556036014
rs1556036014
PHEX
1.000 0.200 X 22133522 splice acceptor variant G/C snv
CUI: C0733682
Disease: Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 0
dbSNP: rs202164519
rs202164519
PHEX
1.000 0.200 X 22133579 missense variant A/C snv 2.2E-05 3.8E-05
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