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: rs1060499740
rs1060499740
CINP
14 102348559 stop lost A/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1060499740
rs1060499740
CINP
14 102348559 stop lost A/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1060499740
rs1060499740
CINP
14 102348559 stop lost A/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs11704
rs11704
CINP ; ZNF839
0.925 0.080 14 102342318 3 prime UTR variant G/C snv 0.26
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs11704
rs11704
CINP ; ZNF839
0.925 0.080 14 102342318 3 prime UTR variant G/C snv 0.26
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017