SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
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: rs761937143
rs761937143
1.000 0.040 18 51047229 synonymous variant A/C snv 8.0E-06
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
Neoplasms 0.010 1.000 1 2019 2019