LRRC32, leucine rich repeat containing 32, 2615

N. diseases: 58; N. variants: 3
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: rs369867819
rs369867819
0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.710 1.000 1 2019 2019
dbSNP: rs147482218
rs147482218
11 76667642 intron variant T/G snv 7.9E-03
CUI: C0019360
Disease: Herpes zoster disease
Herpes zoster disease
Infections 0.700 1.000 1 2019 2019
dbSNP: rs7944463
rs7944463
11 76662852 non coding transcript exon variant T/C snv 0.39
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs369867819
rs369867819
0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs369867819
rs369867819
0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration
0.700 0
dbSNP: rs369867819
rs369867819
0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs369867819
rs369867819
0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06
CUI: C0339467
Disease: Proliferative retinopathy
Proliferative retinopathy
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019