Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918299
rs121918299
TJP2
1.000 0.080 9 69216367 missense variant T/C snv 5.2E-04
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		0.800 1.000 1 2003 2003
dbSNP: rs28937579
rs28937579
BAAT
1.000 0.080 9 101371179 missense variant T/C snv 2.4E-05 1.7E-04
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		0.800 1.000 1 2003 2003