Source: UNIPROT

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: rs756851968
rs756851968
CHD7
1.000 0.080 8 60741555 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 13 2004 2015
dbSNP: rs763978472
rs763978472
CHD7
1.000 0.080 8 60821905 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 13 2004 2015
dbSNP: rs773187713
rs773187713
CHD7
1.000 0.080 8 60841976 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 13 2004 2015
dbSNP: rs117506164
rs117506164
CHD7
1.000 0.080 8 60821923 missense variant G/A snv 6.1E-04 2.9E-04
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 2 2011 2013
dbSNP: rs377662366
rs377662366
CHD7
1.000 0.080 8 60820073 missense variant A/C;G snv 3.3E-03
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 2 2011 2013
dbSNP: rs794727555
rs794727555
CHD7
1.000 0.080 8 60853033 missense variant G/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 2 2011 2013
dbSNP: rs1057521077
rs1057521077
CHD7
1.000 0.080 8 60822604 missense variant T/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs1373315351
rs1373315351
CHD7
1.000 0.080 8 60865043 missense variant C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs746837682
rs746837682
CHD7
1.000 0.080 8 60781006 missense variant C/G snv 6.4E-05 7.0E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs767819417
rs767819417
CHD7
1.000 0.080 8 60741647 missense variant A/G snv 1.2E-05 2.1E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs770166812
rs770166812
CHD7
1.000 0.080 8 60837729 missense variant C/G;T snv 4.2E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0
dbSNP: rs772369092
rs772369092
CHD7
1.000 0.080 8 60742747 missense variant C/G;T snv 1.6E-05; 4.0E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 0