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: rs1064793083
rs1064793083
CHD7
0.882 0.080 8 60828682 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs1064793083
rs1064793083
CHD7
0.882 0.080 8 60828682 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs1554602465
rs1554602465
CHD7
0.882 0.080 8 60845063 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs1554602465
rs1554602465
CHD7
0.882 0.080 8 60845063 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs1554603550
rs1554603550
CHD7
8 60850514 missense variant T/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs1554603589
rs1554603589
CHD7
8 60850623 splice donor variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1999 2016
dbSNP: rs875989879
rs875989879
CHD7
0.925 0.080 8 60853017 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs875989879
rs875989879
CHD7
0.925 0.080 8 60853017 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs886040988
rs886040988
CHD7
1.000 0.080 8 60830422 missense variant T/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1999 2016
dbSNP: rs886040988
rs886040988
CHD7
1.000 0.080 8 60830422 missense variant T/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs886041166
rs886041166
CHD7
1.000 8 60742366 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs886041166
rs886041166
CHD7
1.000 8 60742366 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs886041166
rs886041166
CHD7
1.000 8 60742366 stop gained C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 20 1999 2016
dbSNP: rs398124321
rs398124321
CHD7
0.925 0.080 8 60850486 splice region variant G/A;T snv 4.0E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 6 2004 2018
dbSNP: rs794727293
rs794727293
CHD7
1.000 0.080 8 60741901 stop gained C/T snv 4.1E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 6 2004 2012
dbSNP: rs121434338
rs121434338
CHD7
0.925 0.080 8 60822627 missense variant A/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.800 1.000 5 2004 2015
dbSNP: rs587783454
rs587783454
CHD7
1.000 0.080 8 60854437 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 4 2006 2012
dbSNP: rs794727423
rs794727423
CHD7
0.925 0.080 8 60850476 intron variant G/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 4 2006 2016
dbSNP: rs398124321
rs398124321
CHD7
0.925 0.080 8 60850486 splice region variant G/A;T snv 4.0E-06
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2004 2012
dbSNP: rs587783458
rs587783458
CHD7
1.000 0.080 8 60862322 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 3 2006 2016
dbSNP: rs757160222
rs757160222
CHD7
1.000 0.080 8 60852186 stop gained C/A;G;T snv 1.2E-05; 4.0E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 3 2006 2010
dbSNP: rs886040995
rs886040995
CHD7
1.000 0.080 8 60852682 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 3 2006 2016
dbSNP: rs1554606274
rs1554606274
CHD7
1.000 0.080 8 60862337 splice donor variant G/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 2 2012 2014
dbSNP: rs794727423
rs794727423
CHD7
0.925 0.080 8 60850476 intron variant G/A snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 2 2006 2016
dbSNP: rs864622523
rs864622523
CHD7
1.000 0.080 8 60828661 splice acceptor variant A/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 2 2012 2014