SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
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: rs111033199
rs111033199
0.882 0.160 7 107672245 missense variant G/A;C;T snv 1.8E-04; 4.0E-06
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs539699299
rs539699299
0.851 0.160 7 107661725 missense variant C/A;G snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
Endocrine System Diseases 0.010 1.000 1 2006 2006