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: 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: rs1554231814
rs1554231814
ARID1B
6 157184262 frameshift variant C/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1984 2017
dbSNP: rs1554234424
rs1554234424
ARID1B
1.000 6 157196295 stop gained T/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1984 2017
dbSNP: rs1554234424
rs1554234424
ARID1B
1.000 6 157196295 stop gained T/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554235792
rs1554235792
ARID1B
1.000 6 157201064 stop gained C/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054
ARID1B
1.000 6 157201481 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054
ARID1B
1.000 6 157201481 frameshift variant -/G delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054
ARID1B
1.000 6 157201481 frameshift variant -/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554237050
rs1554237050
ARID1B
6 157206240 frameshift variant A/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1984 2017
dbSNP: rs1554237658
rs1554237658
ARID1B
0.925 0.280 6 157206917 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1984 2017
dbSNP: rs1554237658
rs1554237658
ARID1B
0.925 0.280 6 157206917 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554237848
rs1554237848
ARID1B
1.000 6 157207180 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554237848
rs1554237848
ARID1B
1.000 6 157207180 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1984 2017
dbSNP: rs1554247637
rs1554247637
ARID1B
1.000 6 156778646 frameshift variant TGCGAGCGGCGGCC/G delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1984 2017
dbSNP: rs1554247637
rs1554247637
ARID1B
1.000 6 156778646 frameshift variant TGCGAGCGGCGGCC/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554256703
rs1554256703
ARID1B
0.925 0.280 6 156829302 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554256703
rs1554256703
ARID1B
0.925 0.280 6 156829302 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1984 2017
dbSNP: rs201653711
rs201653711
ARID1B
0.925 0.280 6 156871638 stop gained G/T snv 1.2E-05 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: 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: rs797045282
rs797045282
ARID1B
1.000 0.280 6 157206545 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1984 2017
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 2 2012 2015
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 1.000 2 2012 2015