Source: CURATED

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: rs113184243
rs113184243
ARID1A
1 26737891 intron variant G/T snv 5.8E-02
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.700 1.000 1 2019 2019
dbSNP: rs114165349
rs114165349
ARID1A ; LOC101928728
1 26695422 intron variant G/C snv 1.7E-02
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.700 1.000 1 2019 2019
dbSNP: rs114165349
rs114165349
ARID1A ; LOC101928728
1 26695422 intron variant G/C snv 1.7E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2019 2019
dbSNP: rs114165349
rs114165349
ARID1A ; LOC101928728
1 26695422 intron variant G/C snv 1.7E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs114165349
rs114165349
ARID1A ; LOC101928728
1 26695422 intron variant G/C snv 1.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2019 2019
dbSNP: rs114165349
rs114165349
ARID1A ; LOC101928728
1 26695422 intron variant G/C snv 1.7E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs35428899
rs35428899
ARID1A
1 26773752 intron variant C/T snv 1.9E-02 2.1E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1485978447
rs1485978447
ARID1A
1.000 1 26779062 stop gained C/A;T snv
CUI: C3553247
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 		0.700 0
dbSNP: rs1553146165
rs1553146165
ARID1A
1.000 1 26697317 frameshift variant CTACCAGGGCTACCCCGGGG/- delins
CUI: C3553247
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 		0.700 0
dbSNP: rs1553149467
rs1553149467
ARID1A
1.000 0.080 1 26731454 stop gained C/G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs1553153291
rs1553153291
ARID1A
1.000 1 26775086 frameshift variant -/A delins
CUI: C3553247
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C0265837
Disease: Congenital hypoplasia of tricuspid valve
Congenital hypoplasia of tricuspid valve 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C0344760
Disease: Congenital atresia of mitral valve
Congenital atresia of mitral valve 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C0265881
Disease: Congenital hypoplasia of aortic arch
Congenital hypoplasia of aortic arch 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		0.700 0