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: 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
dbSNP: rs886040991
rs886040991
CHD7
0.925 0.080 8 60838115 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 2 2006 2012
dbSNP: rs1060503188
rs1060503188
CHD7
1.000 0.080 8 60856592 stop gained C/G;T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1554581657
rs1554581657
CHD7
1.000 0.080 8 60742744 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 1 2010 2010
dbSNP: rs1554588712
rs1554588712
CHD7
1.000 0.080 8 60781253 frameshift variant A/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 1 2010 2010
dbSNP: rs1563559321
rs1563559321
CHD7
1.000 0.080 8 60741714 frameshift variant T/- del
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs1563560493
rs1563560493
CHD7
1.000 0.080 8 60742147 frameshift variant C/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs1563674316
rs1563674316
CHD7
1.000 0.080 8 60865485 frameshift variant ATGAAGA/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs587783450
rs587783450
CHD7
0.925 0.080 8 60852882 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 1 2006 2006
dbSNP: rs766862122
rs766862122
CHD7
1.000 0.080 8 60852924 stop gained C/G;T snv 2.0E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs797044919
rs797044919
CHD7
8 60845364 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 1 2015 2015
dbSNP: rs886040983
rs886040983
CHD7
0.925 0.120 8 60822504 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 1 2010 2010
dbSNP: rs1021645395
rs1021645395
CHD7
1.000 0.080 8 60850497 stop gained T/C;G snv 3.5E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs1057518891
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1057518891
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1057518891
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv
CUI: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment 		0.700 0
dbSNP: rs1057518891
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv
CUI: C0563243
Disease: Poor coordination
Poor coordination 		0.700 0
dbSNP: rs1057518891
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 0