TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908863
rs121908863
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C3493776
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
G 0.800 CausalMutation CLINVAR
dbSNP: rs121908864
rs121908864
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C1836706
Disease:
Hyperthyroidism, Nonautoimmune
C 0.710 CausalMutation CLINVAR
dbSNP: rs121908877
rs121908877
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C1836706
Disease:
Hyperthyroidism, Nonautoimmune
T 0.710 CausalMutation CLINVAR
dbSNP: rs121908859
rs121908859
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C1863960
Disease:
Thyroid Adenoma, Hyperfunctioning
G 0.700 CausalMutation CLINVAR
dbSNP: rs121908860
rs121908860
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C1863960
Disease:
Thyroid Adenoma, Hyperfunctioning
AT 0.700 CausalMutation CLINVAR
dbSNP: rs121908861
rs121908861
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C1863960
Disease:
Thyroid Adenoma, Hyperfunctioning
C 0.700 CausalMutation CLINVAR
dbSNP: rs121908861
rs121908861
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C1836706
Disease:
Hyperthyroidism, Nonautoimmune
C 0.700 CausalMutation CLINVAR
dbSNP: rs121908862
rs121908862
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C3493776
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs121908865
rs121908865
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C3493776
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs121908867
rs121908867
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C3493776
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908868
rs121908868
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C3493776
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs121908869
rs121908869
Entrez Id: 7253;145508
Gene Symbol: TSHR;CEP128
TSHR;CEP128
CUI: C0014544
Disease:
Epilepsy
C 0.700 CausalMutation CLINVAR
dbSNP: rs121908869
rs121908869
Entrez Id: 7253;145508
Gene Symbol: TSHR;CEP128
TSHR;CEP128
CUI: C1846135
Disease:
Autistic features
C 0.700 CausalMutation CLINVAR
dbSNP: rs121908869
rs121908869
Entrez Id: 7253;145508
Gene Symbol: TSHR;CEP128
TSHR;CEP128
CUI: C3493776
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs121908869
rs121908869
Entrez Id: 7253;145508
Gene Symbol: TSHR;CEP128
TSHR;CEP128
CUI: C0424605
Disease:
Developmental delay (disorder)
C 0.700 CausalMutation CLINVAR
dbSNP: rs121908870
rs121908870
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C3493776
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs121908871
rs121908871
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C3493776
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs121908872
rs121908872
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C3493776
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs121908873
rs121908873
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C1836706
Disease:
Hyperthyroidism, Nonautoimmune
A 0.700 CausalMutation CLINVAR
dbSNP: rs121908873
rs121908873
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C1863960
Disease:
Thyroid Adenoma, Hyperfunctioning
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908874
rs121908874
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C1836706
Disease:
Hyperthyroidism, Nonautoimmune
C 0.700 CausalMutation CLINVAR
dbSNP: rs121908875
rs121908875
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C1836706
Disease:
Hyperthyroidism, Nonautoimmune
A 0.700 CausalMutation CLINVAR
dbSNP: rs121908876
rs121908876
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C1836706
Disease:
Hyperthyroidism, Nonautoimmune
A 0.700 CausalMutation CLINVAR
dbSNP: rs121908877
rs121908877
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C1863960
Disease:
Thyroid Adenoma, Hyperfunctioning
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908879
rs121908879
Entrez Id: 7253;101928462
Gene Symbol: TSHR;LOC101928462
TSHR;LOC101928462
CUI: C1863959
Disease:
Hyperthyroidism, Familial Gestational
G 0.700 CausalMutation CLINVAR