IGSF1, immunoglobulin superfamily member 1, 3547

N. diseases: 66; N. variants: 8
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514622
rs397514622 		1.000 0.040 X 131276974 missense variant G/A;C snv 5.5E-06
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		Pathological Conditions, Signs and Symptoms 0.800 1.000 1 2012 2012
dbSNP: rs1556181091
rs1556181091 		1.000 0.040 X 131278027 inframe deletion TTATACAGAGCAAACCCCATGCCTGCC/- delins
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs398122919
rs398122919 		1.000 0.040 X 131275746 stop gained C/T snv
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs398122920
rs398122920 		1.000 0.040 X 131277943 frameshift variant C/- del
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs398122921
rs398122921 		1.000 0.040 X 131274768 frameshift variant -/A delins
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		Pathological Conditions, Signs and Symptoms 0.700 0