IGSF1, immunoglobulin superfamily member 1, 3547

N. diseases: 66; N. variants: 8
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514622
rs397514622
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C3550963
Disease:
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. 23143598 2012
dbSNP: rs397514622
rs397514622
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C3550963
Disease:
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1556181091
rs1556181091
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C3550963
Disease:
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122919
rs398122919
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C3550963
Disease:
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122920
rs398122920
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C3550963
Disease:
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122921
rs398122921
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C3550963
Disease:
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		TA 0.700 CausalMutation CLINVAR