rs1057521737, EP300

N. diseases: 11
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Decreased antibody level in blood
CUI: C4048270
Disease: Decreased antibody level in blood
5 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0
Hypoplastic toenails
CUI: C1837279
Disease: Hypoplastic toenails
1 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0
Metatarsus Varus
CUI: C4082169
Disease: Metatarsus Varus
3 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0
Parietal bossing
CUI: C1857126
Disease: Parietal bossing
1 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0
RUBINSTEIN-TAYBI SYNDROME 2
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
31 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0
Small earlobe
CUI: C1842680
Disease: Small earlobe
1 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0