rs1057517718, CLCN7

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
6 0.882 0.160 16 1447498 missense variant T/C snv 0.010 1.000 1 2019 2019
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.882 0.160 16 1447498 missense variant T/C snv 0.010 1.000 1 2019 2019
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.160 16 1447498 missense variant T/C snv 0.010 1.000 1 2019 2019
Hypopigmentation disorder
CUI: C0162835
Disease: Hypopigmentation disorder
15 0.882 0.160 16 1447498 missense variant T/C snv 0.010 1.000 1 2019 2019