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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.040 0.500 4 2014 2018
dbSNP: rs1027720509
rs1027720509
17 18340813 missense variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1331681068
rs1331681068
17 18333280 missense variant C/T snv 8.1E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2018 2018