Source: UNIPROT

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: rs1553163562
rs1553163562
1.000 1 64178248 missense variant G/C snv
CUI: C4539997
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 108
DEAFNESS, AUTOSOMAL RECESSIVE 108
0.700 1.000 1 2016 2016
dbSNP: rs760789417
rs760789417
1.000 0.080 1 64177727 missense variant G/A;C snv 6.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 0