SHMT1, serine hydroxymethyltransferase 1, 6470

N. diseases: 106; N. variants: 12
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: rs1979277
rs1979277
0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis
Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007