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: rs118204047
rs118204047
MMADHC
2 0.925 0.080 2 149579643 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs397509361
rs397509361
MMADHC
2 0.925 0.080 2 149582217 frameshift variant TAAAGAGC/- delins 0.700 0
dbSNP: rs397509362
rs397509362
MMADHC
2 0.925 0.080 2 149579478 inframe insertion -/TGATAAAGGTTCTGCTAG delins 0.700 0