Gene: CWF19L1 ×
Source: ALL
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: rs1554902760
rs1554902760
CWF19L1 ; SNORA12
1 1.000 10 100238126 stop gained C/A snv 0.700 0
dbSNP: rs587780326
rs587780326
CWF19L1
1 1.000 10 100245798 splice donor variant C/T snv 1.4E-04 7.0E-05 0.700 0
dbSNP: rs879255653
rs879255653
CWF19L1
1 1.000 10 100245817 stop gained T/A;G snv 4.0E-06 0.700 0
dbSNP: rs879255654
rs879255654
CWF19L1
1 1.000 10 100256299 frameshift variant G/- delins 0.700 0