Source: ALL

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: rs73013281
rs73013281
ARID1B
1.000 0.080 6 156777090 5 prime UTR variant T/C snv 7.3E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1057518648
rs1057518648
ARID1B
1.000 0.280 6 156777946 missense variant G/A snv 8.0E-06
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
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: rs1318358361
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		0.040 1.000 4 2006 2019
dbSNP: rs1318358361
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		0.030 1.000 3 2001 2012
dbSNP: rs1318358361
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.020 1.000 2 1999 2002
dbSNP: rs1318358361
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1999 1999
dbSNP: rs1318358361
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0263641
Disease: Epithelial hyperplasia of skin
Epithelial hyperplasia of skin 		0.010 1.000 1 2001 2001
dbSNP: rs1318358361
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 1.000 1 1997 1997
dbSNP: rs1318358361
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.010 1.000 1 2001 2001
dbSNP: rs1318358361
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		0.010 1.000 1 2010 2010
dbSNP: rs1318358361
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		0.010 1.000 1 1999 1999
dbSNP: rs1318358361
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.010 1.000 1 2006 2006
dbSNP: rs1318358361
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.010 1.000 1 2010 2010
dbSNP: rs1318358361
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs1318358361
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.010 1.000 1 2010 2010
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: rs11967485
rs11967485
ARID1B
6 156807123 intron variant G/A snv 0.15
CUI: C0201925
Disease: Calcium measurement
Calcium measurement 		0.800 1.000 1 2013 2013
dbSNP: rs11967485
rs11967485
ARID1B
6 156807123 intron variant G/A snv 0.15
CUI: C0428302
Disease: Calcium level result
Calcium level result 		0.700 1.000 1 2013 2013
dbSNP: rs287879
rs287879
ARID1B
6 156822205 intron variant A/G snv 0.25
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2018 2018
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0