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: rs111033307
rs111033307
0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05
CUI: C0018021
Disease: Goiter
Goiter
Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs28939086
rs28939086
0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06
CUI: C0018021
Disease: Goiter
Goiter
Endocrine System Diseases 0.010 1.000 1 2004 2004