rs1557612048, ARID1A

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.
Bifid uvula
CUI: C4551488
Disease: Bifid uvula
7 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
Central hypothyroidism
CUI: C0271801
Disease: Central hypothyroidism
3 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
Ectopic posterior pituitary
CUI: C3279571
Disease: Ectopic posterior pituitary
2 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
Holoprosencephaly
CUI: C0079541
Disease: Holoprosencephaly
45 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
CUI: C3553247
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
12 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
Sparse eyebrow
CUI: C1832446
Disease: Sparse eyebrow
6 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0