Source: BEFREE

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: rs777875898
rs777875898
PTGR1
1.000 0.120 9 111594264 frameshift variant A/- del 4.0E-06 7.0E-06
CUI: C1096903
Disease: Sialic Acid Storage Disease, Finnish Type (disorder)
Sialic Acid Storage Disease, Finnish Type (disorder) 		0.020 1.000 2 2018 2019
dbSNP: rs777875898
rs777875898
PTGR1
1.000 0.120 9 111594264 frameshift variant A/- del 4.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2018 2019