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: rs121912988
rs121912988
DSPP
1 1.000 0.040 4 87610924 missense variant T/G snv 0.800 1.000 2 2002 2008
dbSNP: rs1553904372
rs1553904372
DSPP
1 1.000 0.040 4 87615797 frameshift variant C/- del 0.700 1.000 1 2016 2016
dbSNP: rs1553904512
rs1553904512
DSPP
1 1.000 0.040 4 87616164 frameshift variant -/CAGCG delins 0.700 1.000 1 2016 2016
dbSNP: rs1560478758
rs1560478758
DSPP
1 1.000 0.040 4 87614702 frameshift variant C/- del 0.700 0