Source: CURATED ×
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: rs587777696
rs587777696
SLC1A1 ; SPATA6L
1 0.925 0.280 9 4585316 missense variant C/T snv 4.0E-06 0.810 1.000 1 2011 2011
dbSNP: rs587777697
rs587777697
SLC1A1 ; SPATA6L
1 1.000 0.280 9 4576750 inframe deletion TCA/- delins 0.700 0