Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
A 0.810 CausalMutation CLINVAR
dbSNP: rs121434341
rs121434341
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
T 0.810 CausalMutation CLINVAR
dbSNP: rs121434339
rs121434339
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
G 0.800 CausalMutation CLINVAR
dbSNP: rs121434343
rs121434343
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs121434345
rs121434345
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C3552553
Disease:
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
G 0.800 CausalMutation CLINVAR
dbSNP: rs587783451
rs587783451
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
G 0.800 GeneticVariation CLINVAR
dbSNP: rs864309609
rs864309609
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
C 0.800 CausalMutation CLINVAR
dbSNP: rs886040988
rs886040988
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
A 0.800 GeneticVariation CLINVAR
dbSNP: rs1021645395
rs1021645395
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs1057518891
rs1057518891
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0036439
Disease:
Scoliosis, unspecified
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518891
rs1057518891
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0221358
Disease:
Long narrow head
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518891
rs1057518891
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C1842138
Disease:
Progressive hearing impairment
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518891
rs1057518891
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0020676
Disease:
Hypothyroidism
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518891
rs1057518891
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0027092
Disease:
Myopia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518891
rs1057518891
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0563243
Disease:
Poor coordination
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519423
rs1057519423
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057521077
rs1057521077
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
0.700 GeneticVariation UNIPROT
dbSNP: rs1060499560
rs1060499560
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1060499937
rs1060499937
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1060503180
rs1060503180
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs1060503181
rs1060503181
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1060503182
rs1060503182
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs1060503183
rs1060503183
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs1060503184
rs1060503184
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1060503185
rs1060503185
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome
A 0.700 CausalMutation CLINVAR