Gene: KCNV2 ×
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: rs786205121
rs786205121
KCNV2
2 1.000 0.080 9 2717745 frameshift variant AACA/- delins 0.700 1.000 1 2011 2011
dbSNP: rs1554628460
rs1554628460
KCNV2
1 9 2717843 frameshift variant -/GTTCCGGCTCCCAGGCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGACGGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGTCC delins 0.700 0
dbSNP: rs977790637
rs977790637
KCNV2
1 9 2718301 missense variant T/A;G snv 0.700 0