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: rs1554617582
rs1554617582
TRPS1
6 0.925 0.080 8 115418427 frameshift variant -/A delins 0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
dbSNP: rs1392714391
rs1392714391
LGSN
2 0.925 0.120 6 63285681 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018