Gene: SLC12A2 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886040968
rs886040968
SLC12A2
3 1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins 0.700 0