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: rs121434341
rs121434341
CHD7
0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.810 1.000 0 2004 2015
dbSNP: rs121434339
rs121434339
CHD7
1.000 0.080 8 60830569 missense variant T/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.800 1.000 0 2004 2015
dbSNP: rs121434343
rs121434343
CHD7
0.925 0.080 8 60853047 missense variant G/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.800 1.000 0 2004 2015
dbSNP: rs121434345
rs121434345
CHD7
1.000 8 60741596 missense variant A/G snv 8.0E-06
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.800 1.000 0 2008 2014
dbSNP: rs587783451
rs587783451
CHD7
1.000 0.080 8 60853012 missense variant A/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.800 1.000 0 2004 2015
dbSNP: rs864309609
rs864309609
CHD7
1.000 0.080 8 60836175 missense variant T/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.800 1.000 0 2004 2015
dbSNP: rs886040988
rs886040988
CHD7
1.000 0.080 8 60830422 missense variant T/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.800 1.000 0 2004 2015
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
dbSNP: rs1057518891
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 0
dbSNP: rs1057519423
rs1057519423
CHD7
1.000 0.080 8 60742984 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs1060499560
rs1060499560
CHD7
1.000 0.080 8 60853016 frameshift variant C/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs1060499937
rs1060499937
CHD7
1.000 0.080 8 60844998 frameshift variant G/- del
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs1060503180
rs1060503180
CHD7
1.000 0.080 8 60848514 splice acceptor variant G/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs1060503181
rs1060503181
CHD7
1.000 0.080 8 60816455 frameshift variant T/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs1060503182
rs1060503182
CHD7
1.000 0.080 8 60794985 splice acceptor variant G/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs1060503183
rs1060503183
CHD7
1.000 0.080 8 60823837 splice region variant T/C;G snv 1.2E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs1060503184
rs1060503184
CHD7
1.000 0.080 8 60742489 frameshift variant T/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs1060503185
rs1060503185
CHD7
1.000 0.080 8 60852886 frameshift variant CT/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs1060503187
rs1060503187
CHD7
1.000 0.080 8 60822638 missense variant G/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs1060503189
rs1060503189
CHD7
1.000 0.080 8 60816501 splice donor variant G/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0