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: rs797045272
rs797045272
ARID1B
1.000 0.280 6 157084872 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554294698
rs1554294698
ARID1B
1.000 0.280 6 157084879 frameshift variant -/C delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs879253856
rs879253856
ARID1B
0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.700 0
dbSNP: rs879253856
rs879253856
ARID1B
0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs879253856
rs879253856
ARID1B
0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.700 0
dbSNP: rs879253856
rs879253856
ARID1B
0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.700 0
dbSNP: rs879253856
rs879253856
ARID1B
0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs879253856
rs879253856
ARID1B
0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		0.700 0
dbSNP: rs1554301230
rs1554301230
ARID1B
1.000 0.280 6 157133116 frameshift variant -/G delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554226131
rs1554226131
ARID1B
1.000 6 157148899 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1984 2017
dbSNP: rs1554226131
rs1554226131
ARID1B
1.000 6 157148899 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs879253747
rs879253747
ARID1B
0.925 0.240 6 157167101 stop gained C/T snv
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		0.700 0
dbSNP: rs879253747
rs879253747
ARID1B
0.925 0.240 6 157167101 stop gained C/T snv
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.700 0
dbSNP: rs879253747
rs879253747
ARID1B
0.925 0.240 6 157167101 stop gained C/T snv
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.700 0
dbSNP: rs879253747
rs879253747
ARID1B
0.925 0.240 6 157167101 stop gained C/T snv
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs879253747
rs879253747
ARID1B
0.925 0.240 6 157167101 stop gained C/T snv
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.700 0
dbSNP: rs879253747
rs879253747
ARID1B
0.925 0.240 6 157167101 stop gained C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1131692263
rs1131692263
ARID1B
1.000 0.280 6 157174077 frameshift variant CAAAG/- delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs758570139
rs758570139
ARID1B
1.000 6 157181016 stop gained C/G;T snv 2.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1984 2017
dbSNP: rs758570139
rs758570139
ARID1B
1.000 6 157181016 stop gained C/G;T snv 2.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs879253745
rs879253745
ARID1B
0.925 0.240 6 157181040 frameshift variant AA/- delins
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.700 0
dbSNP: rs879253745
rs879253745
ARID1B
0.925 0.240 6 157181040 frameshift variant AA/- delins
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.700 0
dbSNP: rs879253745
rs879253745
ARID1B
0.925 0.240 6 157181040 frameshift variant AA/- delins
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs879253745
rs879253745
ARID1B
0.925 0.240 6 157181040 frameshift variant AA/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs879253745
rs879253745
ARID1B
0.925 0.240 6 157181040 frameshift variant AA/- delins
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.700 0