Source: CLINVAR

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: rs387906555
rs387906555
1.000 0.080 18 53526629 missense variant C/A;G;T snv 4.0E-06; 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0
dbSNP: rs797044556
rs797044556
1.000 0.040 18 53486893 frameshift variant TC/- delins
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder
0.700 1.000 1 2011 2011
dbSNP: rs797044556
rs797044556
1.000 0.040 18 53486893 frameshift variant TC/- delins
CUI: C1834870
Disease: MIRROR MOVEMENTS 1
MIRROR MOVEMENTS 1
0.700 0