Disease: FRASER SYNDROME 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886037765
rs886037765 		1.000 0.200 4 78515911 frameshift variant C/- del
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886037766
rs886037766 		1.000 0.200 4 78441296 splice donor variant AGGTACTACTTCCTGTAAAAC/T delins
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1006839535
rs1006839535 		1.000 0.200 4 78526552 stop gained C/G snv
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs120074156
rs120074156 		1.000 0.200 4 78481962 stop gained C/T snv
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs120074157
rs120074157 		1.000 0.200 4 78496859 stop gained C/G;T snv 4.0E-06
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs120074158
rs120074158 		1.000 0.200 4 78387525 stop gained C/T snv
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs120074159
rs120074159 		1.000 0.200 4 78407804 stop gained C/G snv
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1325190118
rs1325190118 		1.000 0.200 4 78372742 missense variant G/A;T snv 4.0E-06
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1560433104
rs1560433104 		1.000 0.200 4 78540981 frameshift variant -/T delins
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs730882179
rs730882179 		1.000 0.200 4 78464515 frameshift variant -/GG delins
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs730882180
rs730882180 		0.925 0.200 4 78472331 splice donor variant G/T snv 4.2E-06
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs757311669
rs757311669 		1.000 0.200 4 78438905 stop gained C/G;T snv 2.9E-05
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0