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: rs1204021010
rs1204021010
SMCHD1
1 1.000 0.120 18 2743806 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1568280995
rs1568280995
SMCHD1
1 1.000 0.120 18 2740717 missense variant G/T snv 0.700 0
dbSNP: rs886044914
rs886044914
SMCHD1
1 1.000 0.120 18 2697985 inframe deletion ATC/- delins 0.700 0