Source: CLINVAR

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: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C4015466
Disease: Bilateral clinodactyly
Bilateral clinodactyly 		0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism 		0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C0239594
Disease: Short finger
Short finger 		0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C1861921
Disease: Cutaneous syndactyly
Cutaneous syndactyly 		0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C1856202
Disease: U-Shaped upper lip vermilion
U-Shaped upper lip vermilion 		0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C1849164
Disease: Long, smooth philtrum
Long, smooth philtrum 		0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C1855286
Disease: Long curly eyelashes
Long curly eyelashes 		0.700 0