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: rs137852720
rs137852720
EHMT1
0.925 0.160 9 137779634 splice acceptor variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2005 2018
dbSNP: rs1554879633
rs1554879633
EHMT1
9 137778049 frameshift variant -/G delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 8 2005 2018
dbSNP: rs749848324
rs749848324
EHMT1
1.000 9 137816034 stop gained C/G;T snv 4.0E-06 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2005 2018
dbSNP: rs137852714
rs137852714
EHMT1
0.925 0.280 9 137743418 stop gained C/A;T snv 1.2E-05
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		0.700 1.000 1 2009 2009
dbSNP: rs137852715
rs137852715
EHMT1
1.000 0.280 9 137757919 frameshift variant GGCACCAGGAGAC/- delins
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		0.700 1.000 1 2006 2006
dbSNP: rs137852716
rs137852716
EHMT1
1.000 0.280 9 137762702 frameshift variant AGAC/- delins
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		0.700 1.000 1 2009 2009
dbSNP: rs786205129
rs786205129
EHMT1
1.000 0.280 9 137813008 frameshift variant TTCT/- delins
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		0.700 1.000 1 2012 2012
dbSNP: rs797045043
rs797045043
EHMT1
1.000 0.280 9 137716930 frameshift variant G/- delins
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		0.700 1.000 1 2016 2016
dbSNP: rs886037776
rs886037776
EHMT1
0.925 0.280 9 137817477 stop gained G/A snv
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		0.700 1.000 1 2016 2016
dbSNP: rs886037776
rs886037776
EHMT1
0.925 0.280 9 137817477 stop gained G/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 1.000 1 2016 2016
dbSNP: rs1057518849
rs1057518849
EHMT1
0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518849
rs1057518849
EHMT1
0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.700 0
dbSNP: rs1057518849
rs1057518849
EHMT1
0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1057518849
rs1057518849
EHMT1
0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.700 0
dbSNP: rs1057518913
rs1057518913
EHMT1
0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1057518913
rs1057518913
EHMT1
0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.700 0
dbSNP: rs1057518913
rs1057518913
EHMT1
0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518913
rs1057518913
EHMT1
0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		0.700 0
dbSNP: rs1057518913
rs1057518913
EHMT1
0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C0431447
Disease: Synophrys
Synophrys 		0.700 0
dbSNP: rs1057518913
rs1057518913
EHMT1
0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 0
dbSNP: rs1057518913
rs1057518913
EHMT1
0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs121918301
rs121918301
EHMT1
0.925 0.280 9 137818100 stop gained C/T snv
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		0.700 0
dbSNP: rs121918301
rs121918301
EHMT1
0.925 0.280 9 137818100 stop gained C/T snv
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		0.700 0
dbSNP: rs137852714
rs137852714
EHMT1
0.925 0.280 9 137743418 stop gained C/A;T snv 1.2E-05
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		0.700 0
dbSNP: rs137852717
rs137852717
EHMT1
1.000 0.160 9 137776636 stop gained C/T snv
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		0.700 0