ZIC1, Zic family member 1, 7545

N. diseases: 124; N. variants: 2
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12629668
rs12629668
0.925 0.160 3 147491392 intron variant T/C;G snv
CUI: C0339471
Disease: Maculopathy with diabetes mellitus
Maculopathy with diabetes mellitus
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12629668
rs12629668
0.925 0.160 3 147491392 intron variant T/C;G snv
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1057517670
rs1057517670
1.000 3 147413405 missense variant G/C snv
CUI: C4225269
Disease: CRANIOSYNOSTOSIS 6
CRANIOSYNOSTOSIS 6
0.700 0