Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918670
rs121918670
Entrez Id: 7252
Gene Symbol: TSHB
TSHB
CUI: C0271789
Disease:
Hypothyroidism, Congenital, Nongoitrous, 4
T 0.700 GeneticVariation CLINVAR Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene. 11297590 2001
dbSNP: rs121918670
rs121918670
Entrez Id: 7252
Gene Symbol: TSHB
TSHB
CUI: C0271789
Disease:
Hypothyroidism, Congenital, Nongoitrous, 4
T 0.700 GeneticVariation CLINVAR New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism. 11549695 2001
dbSNP: rs121918668
rs121918668
Entrez Id: 7252
Gene Symbol: TSHB
TSHB
CUI: C0271789
Disease:
Hypothyroidism, Congenital, Nongoitrous, 4
A 0.700 CausalMutation CLINVAR
dbSNP: rs121918669
rs121918669
Entrez Id: 7252
Gene Symbol: TSHB
TSHB
CUI: C0271789
Disease:
Hypothyroidism, Congenital, Nongoitrous, 4
T 0.700 CausalMutation CLINVAR
dbSNP: rs121918670
rs121918670
Entrez Id: 7252
Gene Symbol: TSHB
TSHB
CUI: C0271789
Disease:
Hypothyroidism, Congenital, Nongoitrous, 4
T 0.700 CausalMutation CLINVAR
dbSNP: rs755485552
rs755485552
Entrez Id: 7252
Gene Symbol: TSHB
TSHB
CUI: C0271789
Disease:
Hypothyroidism, Congenital, Nongoitrous, 4
C 0.700 CausalMutation CLINVAR
dbSNP: rs1321108
rs1321108
Entrez Id: 7252
Gene Symbol: TSHB
TSHB
CUI: C0085215
Disease:
Ovarian Failure, Premature
0.010 GeneticVariation BEFREE In stage I, two SNPs (rs7530810 and rs1321108) in the 5' flanking region of the TSHB gene demonstrated significant synergistic interactions with one tagging intronic SNP (rs13172105) in the ADAMTS16 gene (odds ratios, 6.63 and 5.57; 95% CIs, 2.30-19.18 and 2.05-15.12; P = 0.00048 and 0.00074, respectively) although the SNPs were not significantly associated with POF in a single SNP model. 24366283 2014
dbSNP: rs1321108
rs1321108
Entrez Id: 7252
Gene Symbol: TSHB
TSHB
CUI: C0025322
Disease:
Premature Menopause
0.010 GeneticVariation BEFREE In stage I, two SNPs (rs7530810 and rs1321108) in the 5' flanking region of the TSHB gene demonstrated significant synergistic interactions with one tagging intronic SNP (rs13172105) in the ADAMTS16 gene (odds ratios, 6.63 and 5.57; 95% CIs, 2.30-19.18 and 2.05-15.12; P = 0.00048 and 0.00074, respectively) although the SNPs were not significantly associated with POF in a single SNP model. 24366283 2014
dbSNP: rs7530810
rs7530810
Entrez Id: 7252
Gene Symbol: TSHB
TSHB
CUI: C0085215
Disease:
Ovarian Failure, Premature
0.010 GeneticVariation BEFREE In stage I, two SNPs (rs7530810 and rs1321108) in the 5' flanking region of the TSHB gene demonstrated significant synergistic interactions with one tagging intronic SNP (rs13172105) in the ADAMTS16 gene (odds ratios, 6.63 and 5.57; 95% CIs, 2.30-19.18 and 2.05-15.12; P = 0.00048 and 0.00074, respectively) although the SNPs were not significantly associated with POF in a single SNP model. 24366283 2014
dbSNP: rs7530810
rs7530810
Entrez Id: 7252
Gene Symbol: TSHB
TSHB
CUI: C0025322
Disease:
Premature Menopause
0.010 GeneticVariation BEFREE In stage I, two SNPs (rs7530810 and rs1321108) in the 5' flanking region of the TSHB gene demonstrated significant synergistic interactions with one tagging intronic SNP (rs13172105) in the ADAMTS16 gene (odds ratios, 6.63 and 5.57; 95% CIs, 2.30-19.18 and 2.05-15.12; P = 0.00048 and 0.00074, respectively) although the SNPs were not significantly associated with POF in a single SNP model. 24366283 2014