ARID2, AT-rich interaction domain 2, 196528

N. diseases: 167; N. variants: 13
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: rs1555155263
rs1555155263 		1.000 12 45851563 frameshift variant TTAC/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2005 2017
dbSNP: rs1650007
rs1650007 		12 45904652 intron variant T/C snv 0.63
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1863127
rs1863127 		12 45805806 intron variant T/C snv 0.63
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs7316454
rs7316454 		12 45806613 intron variant G/T snv 0.14
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs772995852
rs772995852 		1.000 12 45852441 stop gained C/G;T snv 1.2E-05
CUI: C4540499
Disease: COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 6 		0.700 1.000 1 2015 2015
dbSNP: rs1555139310
rs1555139310 		1.000 12 45730106 frameshift variant C/- delins
CUI: C4540499
Disease: COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 6 		0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C4023771
Disease: Anterior pituitary dysgenesis
Anterior pituitary dysgenesis 		0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C4023458
Disease: Abnormal shape of the frontal region
Abnormal shape of the frontal region 		0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C0234518
Disease: Slurred speech
Slurred speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C4540499
Disease: COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 6 		0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1555154946
rs1555154946 		0.827 0.120 12 45850644 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1555155110
rs1555155110 		1.000 0.040 12 45851112 stop gained C/T snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		Neoplasms 0.700 0
dbSNP: rs1555155252
rs1555155252 		1.000 12 45851534 frameshift variant AG/- del
CUI: C4540499
Disease: COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 6 		0.700 0
dbSNP: rs796052240
rs796052240 		1.000 12 45850659 frameshift variant G/- del
CUI: C4540499
Disease: COFFIN-SIRIS SYNDROME 6
COFFIN-SIRIS SYNDROME 6 		0.700 0