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: rs768153689
rs768153689
DMBT1
1 1.000 10 122598858 frameshift variant G/- delins 0.010 < 0.001 1 2020 2020
dbSNP: rs779791105
rs779791105
CYP21A2 ; TNXB
3 0.882 0.200 6 32041092 frameshift variant -/C delins 4.5E-06 0.010 1.000 1 1993 1993
dbSNP: rs1205703563
rs1205703563
TXNRD1
3 0.882 0.200 12 104315829 frameshift variant T/- del 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008