Gene: OBSL1 ×
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: rs1559155800
rs1559155800
OBSL1
7 1.000 0.200 2 219568150 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
OBSL1
12 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1553538488
rs1553538488
INHA ; OBSL1
2 1.000 0.200 2 219570542 frameshift variant -/G delins 0.700 0