rs1554032789, NIPBL

N. diseases: 13
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.
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
Bilateral clinodactyly
CUI: C4015466
Disease: Bilateral clinodactyly
1 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
Cornelia de Lange Syndrome 1
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
266 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
Cutaneous syndactyly
CUI: C1861921
Disease: Cutaneous syndactyly
1 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
Long curly eyelashes
CUI: C1855286
Disease: Long curly eyelashes
1 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
Long, smooth philtrum
CUI: C1849164
Disease: Long, smooth philtrum
1 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
Short finger
CUI: C0239594
Disease: Short finger
1 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
U-Shaped upper lip vermilion
CUI: C1856202
Disease: U-Shaped upper lip vermilion
2 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
Unilateral Cryptorchidism
CUI: C0431664
Disease: Unilateral Cryptorchidism
5 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0