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: rs987233144
rs987233144
ARHGEF18
1 1.000 19 7444215 missense variant A/G snv 2.1E-05 0.800 0
dbSNP: rs1064793000
rs1064793000
ARHGEF18
1 1.000 19 7462259 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1064793001
rs1064793001
ARHGEF18
1 1.000 19 7467501 inframe deletion GGCTGGAGCAGGAGCGGGCCGAGC/- delins 0.700 0
dbSNP: rs1064793002
rs1064793002
ARHGEF18
1 1.000 19 7456408 splice region variant G/A snv 0.700 0
dbSNP: rs767689418
rs767689418
ARHGEF18
1 1.000 19 7467400 stop gained G/C;T snv 3.8E-05 0.700 0