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: rs387906812
rs387906812
SMARCB1 ; DERL3
0.882 0.320 22 23834152 missense variant G/A snv 7.0E-06
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.800 1.000 3 2012 2013
dbSNP: rs398122368
rs398122368
SMARCB1
0.925 0.040 22 23791772 missense variant G/A;C snv
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.800 1.000 3 2012 2013
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
0.925 22 23834143 missense variant G/A snv
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.800 1.000 2 2013 2015
dbSNP: rs1555877286
rs1555877286
SMARCB1
1.000 0.160 22 23803395 stop gained C/T snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		0.700 1.000 6 1999 2015
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
0.925 22 23834143 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2012 2014
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
0.925 22 23834143 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 5 2012 2014
dbSNP: rs1057517825
rs1057517825
SMARCB1 ; DERL3
0.925 22 23834143 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2012 2014
dbSNP: rs1568937197
rs1568937197
SMARCB1
1.000 0.160 22 23793689 splice donor variant G/A snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		0.700 1.000 3 1999 2011
dbSNP: rs875989800
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		0.700 1.000 3 2012 2014
dbSNP: rs886039520
rs886039520
SMARCB1
1.000 22 23833681 missense variant C/T snv
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.700 1.000 3 2012 2013
dbSNP: rs1555877276
rs1555877276
SMARCB1
1.000 0.160 22 23803294 splice acceptor variant G/C snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		0.700 1.000 2 1999 2011
dbSNP: rs1568937087
rs1568937087
SMARCB1
1.000 0.160 22 23793557 splice acceptor variant A/G snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		0.700 1.000 2 1999 2011
dbSNP: rs1555875915
rs1555875915
SMARCB1
22 23791836 frameshift variant AG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2010 2010
dbSNP: rs5760054
rs5760054
SMARCB1
22 23819530 intron variant C/T snv 0.69
CUI: C2599768
Disease: Fractional shortening
Fractional shortening 		0.700 1.000 1 2018 2018
dbSNP: rs875989800
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.700 1.000 1 2014 2014
dbSNP: rs1060503015
rs1060503015
SMARCB1
1.000 0.160 22 23791780 stop gained C/T snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		0.700 0
dbSNP: rs1060503016
rs1060503016
SMARCB1
0.925 0.240 22 23791814 stop gained G/A snv
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.700 0
dbSNP: rs1060503016
rs1060503016
SMARCB1
0.925 0.240 22 23791814 stop gained G/A snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		0.700 0
dbSNP: rs1060503017
rs1060503017
SMARCB1
0.925 0.240 22 23825398 frameshift variant GAAGACCT/- del
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.700 0
dbSNP: rs1060503017
rs1060503017
SMARCB1
0.925 0.240 22 23825398 frameshift variant GAAGACCT/- del
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		0.700 0
dbSNP: rs121434496
rs121434496
SMARCB1
1.000 22 23803338 stop gained C/T snv
CUI: C4016745
Disease: SCHWANNOMATOSIS 1, SOMATIC
SCHWANNOMATOSIS 1, SOMATIC 		0.700 0
dbSNP: rs1555875892
rs1555875892
SMARCB1
1.000 0.160 22 23791797 stop gained -/GATA delins
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		0.700 0
dbSNP: rs1555875917
rs1555875917
SMARCB1
1.000 0.160 22 23791846 stop gained A/T snv
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		0.700 0
dbSNP: rs1555876140
rs1555876140
SMARCB1
22 23793671 frameshift variant -/C delins
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		0.700 0
dbSNP: rs1555877287
rs1555877287
SMARCB1
1.000 22 23803396 missense variant G/A snv
CUI: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.700 0