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: rs201083157
rs201083157
CHD7
1.000 0.080 8 60852975 missense variant A/G snv 6.4E-05 2.9E-04
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 15 2004 2015
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 15 2004 2015
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: 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 15 2004 2015
dbSNP: rs200806228
rs200806228
CHD7
0.925 0.080 8 60853500 missense variant G/A snv 2.0E-04 1.5E-04
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 15 2004 2015
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 15 2004 2015
dbSNP: rs541818422
rs541818422
CHD7
1.000 0.080 8 60856135 missense variant T/A;C;G snv 4.2E-06; 4.2E-06; 8.4E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 13 2004 2015
dbSNP: rs547209998
rs547209998
CHD7
1.000 0.080 8 60856765 missense variant G/C;T snv 4.0E-06; 2.8E-04
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 13 2004 2015
dbSNP: rs201319489
rs201319489
CHD7
1.000 0.080 8 60862623 missense variant C/T snv 1.3E-03 3.4E-04
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 13 2004 2015
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: rs370231679
rs370231679
CHD7
1.000 0.080 8 60865136 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 13 2004 2015
dbSNP: rs370271088
rs370271088
CHD7
1.000 0.080 8 60865730 missense variant G/A snv 1.0E-04 7.7E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 1.000 13 2004 2015