Source: ALL

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: rs1555738475
rs1555738475
0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.700 0
dbSNP: rs1555738475
rs1555738475
0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis
0.700 0
dbSNP: rs1555738475
rs1555738475
0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C0042138
Disease: Uterine Neoplasms
Uterine Neoplasms
0.700 0
dbSNP: rs1555738475
rs1555738475
0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C3272802
Disease: Hamartomatous polyposis
Hamartomatous polyposis
0.700 0
dbSNP: rs1555738475
rs1555738475
0.776 0.400 19 1220707 frameshift variant G/- delins
Abnormal pigmentation of the oral mucosa
0.700 0
dbSNP: rs1555738475
rs1555738475
0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
0.700 0
dbSNP: rs1555738475
rs1555738475
0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C4021963
Disease: Lip hyperpigmentation
Lip hyperpigmentation
0.700 0
dbSNP: rs1555738475
rs1555738475
0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C0029927
Disease: Ovarian Cysts
Ovarian Cysts
0.700 0
dbSNP: rs1555738475
rs1555738475
0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia
0.700 0
dbSNP: rs1555738475
rs1555738475
0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.700 0
dbSNP: rs1555738475
rs1555738475
0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
0.700 0
dbSNP: rs1555738475
rs1555738475
0.776 0.400 19 1220707 frameshift variant G/- delins
CUI: C0021933
Disease: Intussusception
Intussusception
0.700 0