Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs189261858
rs189261858
TSHR ; LOC101928462
0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.740 1.000 16 2001 2017
dbSNP: rs189261858
rs189261858
TSHR ; LOC101928462
0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 		0.710 1.000 9 2001 2016