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: rs121434338
rs121434338
0.925 0.080 8 60822627 missense variant A/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
0.800 1.000 15 2004 2015
dbSNP: rs121434339
rs121434339
1.000 0.080 8 60830569 missense variant T/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
0.800 1.000 15 2004 2015
dbSNP: rs121434341
rs121434341
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: rs121434343
rs121434343
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: rs587783451
rs587783451
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: rs886040993
rs886040993
1.000 0.080 8 60842051 missense variant G/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
0.700 1.000 15 2004 2015
dbSNP: rs1165711448
rs1165711448
1.000 0.080 8 60821842 missense variant C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
0.700 1.000 13 2004 2015
dbSNP: rs1197494895
rs1197494895
1.000 0.080 8 60852919 missense variant G/A snv 7.0E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
0.700 1.000 13 2004 2015
dbSNP: rs1554602465
rs1554602465
0.882 0.080 8 60845063 missense variant G/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
0.700 1.000 13 2004 2015
dbSNP: rs864309609
rs864309609
1.000 0.080 8 60836175 missense variant T/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
0.800 1.000 13 2004 2015
dbSNP: rs886040988
rs886040988
1.000 0.080 8 60830422 missense variant T/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
0.800 1.000 13 2004 2015
dbSNP: rs794727555
rs794727555
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
1.000 0.080 8 60822604 missense variant T/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
0.700 0
dbSNP: rs1373315351
rs1373315351
1.000 0.080 8 60865043 missense variant C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
0.700 0
dbSNP: rs200898742
rs200898742
1.000 0.080 8 60742144 missense variant G/A;C snv 3.4E-04; 4.0E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
0.700 1.000 13 2004 2015
dbSNP: rs772369092
rs772369092
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
dbSNP: rs373301291
rs373301291
1.000 0.080 8 60836243 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 4.0E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
0.700 1.000 15 2004 2015
dbSNP: rs547209998
rs547209998
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: rs763978472
rs763978472
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: rs541818422
rs541818422
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: rs770166812
rs770166812
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: rs767819417
rs767819417
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: rs756851968
rs756851968
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: rs773187713
rs773187713
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: rs370231679
rs370231679
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