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: rs1557043622
rs1557043622
SLC35A2
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs139811782
rs139811782
ALPL
1 1 21561198 missense variant G/A snv 3.3E-05 1.4E-05 0.700 0
dbSNP: rs1553414078
rs1553414078
ALPL
1 1 21573678 protein altering variant AGGGGAC/T delins 0.700 0
dbSNP: rs1553414600
rs1553414600
ALPL
2 1.000 0.080 1 21575847 frameshift variant CT/- delins 0.700 0
dbSNP: rs1553415164
rs1553415164
ALPL
2 1.000 0.080 1 21577631 frameshift variant CT/- del 0.700 0
dbSNP: rs1558558939
rs1558558939
ALPL
1 1 21577524 missense variant T/G snv 0.700 0
dbSNP: rs886044912
rs886044912
ALPL
1 1 21577527 missense variant C/T snv 7.0E-06 0.700 0