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: rs1554235834
rs1554235834
ARID1B
1.000 0.280 6 157201130 stop gained G/A snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554236040
rs1554236040
ARID1B
0.882 0.320 6 157201464 stop gained C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1554236040
rs1554236040
ARID1B
0.882 0.320 6 157201464 stop gained C/T snv
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		0.700 0
dbSNP: rs1554236040
rs1554236040
ARID1B
0.882 0.320 6 157201464 stop gained C/T snv
CUI: C0013595
Disease: Eczema
Eczema 		0.700 0
dbSNP: rs1554236040
rs1554236040
ARID1B
0.882 0.320 6 157201464 stop gained C/T snv
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		0.700 0
dbSNP: rs1554236040
rs1554236040
ARID1B
0.882 0.320 6 157201464 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554237269
rs1554237269
ARID1B
1.000 0.280 6 157206531 frameshift variant TGTT/- delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554237658
rs1554237658
ARID1B
0.925 0.280 6 157206917 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554237992
rs1554237992
ARID1B
1.000 0.280 6 157207393 stop gained -/CCCTCTGTAAACTCAGTATCCAGGACAA delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554238072
rs1554238072
ARID1B
1.000 0.280 6 157207523 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554248236
rs1554248236
ARID1B ; MIR4466
1.000 0.280 6 156779412 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554256703
rs1554256703
ARID1B
0.925 0.280 6 156829302 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554265271
rs1554265271
ARID1B
1.000 0.280 6 156901427 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554265275
rs1554265275
ARID1B
1.000 0.280 6 156901439 stop gained -/A delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554265319
rs1554265319
ARID1B
1.000 0.280 6 156901497 frameshift variant -/G delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554270809
rs1554270809
ARID1B
1.000 0.280 6 156935499 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554294593
rs1554294593
ARID1B
1.000 0.280 6 157084701 stop gained G/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: 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: rs1562328526
rs1562328526
ARID1B
1.000 0.280 6 157181061 stop gained C/G snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1562331655
rs1562331655
ARID1B
1.000 0.280 6 157184432 frameshift variant C/- delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1562347066
rs1562347066
ARID1B
1.000 0.280 6 157201483 frameshift variant A/- del
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1562350940
rs1562350940
ARID1B
1.000 0.280 6 157206165 splice acceptor variant A/C snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1562354784
rs1562354784
ARID1B
0.925 0.280 6 157207612 frameshift variant A/- delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1562354784
rs1562354784
ARID1B
0.925 0.280 6 157207612 frameshift variant A/- delins
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.700 0