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: rs137853006
rs137853006
PROM1
11 0.776 0.080 4 16013299 missense variant G/A snv 0.800 1.000 1 2008 2008
dbSNP: rs543698823
rs543698823
PROM1
4 0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04 0.700 1.000 2 1999 2009
dbSNP: rs1210104601
rs1210104601
PROM1
1 1.000 0.080 4 16038959 frameshift variant -/T delins 1.4E-05 0.700 0
dbSNP: rs775957498
rs775957498
PROM1
1 1.000 0.080 4 16008947 splice donor variant A/G snv 3.3E-05 3.5E-05 0.700 0
dbSNP: rs886037880
rs886037880
PROM1
2 0.925 0.080 4 16009093 stop gained A/T snv 7.0E-06 0.700 0
dbSNP: rs886037881
rs886037881
PROM1
2 0.925 0.080 4 15984366 intron variant ACAGGGAAAC/- delins 0.700 0