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: rs137853086
rs137853086
GALNT3
1 1.000 2 165770217 stop gained G/A snv 6.8E-05 2.0E-04 0.700 1.000 2 2004 2005
dbSNP: rs104894342
rs104894342
FGF23
3 0.882 0.040 12 4379372 missense variant T/C snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs121908423
rs121908423
KL
3 0.882 0.040 13 33017018 missense variant A/G snv 4.8E-06 7.0E-06 0.700 0
dbSNP: rs1220533001
rs1220533001
FGF23
1 1.000 12 4370732 missense variant C/A;G snv 0.700 0
dbSNP: rs137853087
rs137853087
GALNT3
1 1.000 2 165749747 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs137853088
rs137853088
GALNT3
1 1.000 2 165759443 stop gained A/C snv 0.700 0
dbSNP: rs137853089
rs137853089
GALNT3
1 1.000 2 165755015 stop gained G/A snv 0.700 0
dbSNP: rs137853090
rs137853090
GALNT3
2 1.000 2 165761928 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.700 0
dbSNP: rs137853091
rs137853091
GALNT3
2 1.000 2 165758862 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs1555096583
rs1555096583
FGF23
1 1.000 12 4370714 missense variant A/G snv 0.700 0
dbSNP: rs267606841
rs267606841
GALNT3
5 0.882 0.120 2 165749801 missense variant A/C snv 0.700 0
dbSNP: rs375879489
rs375879489
GALNT3
1 1.000 2 165754927 splice region variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs745655924
rs745655924
GALNT3
1 1.000 2 165754931 splice donor variant C/T snv 0.700 0
dbSNP: rs760830864
rs760830864
GALNT3
1 1.000 2 165754626 splice donor variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs761396172
rs761396172
GALNT3
1 1.000 2 165765058 splice acceptor variant T/A;C snv 2.8E-05; 1.6E-05; 2.4E-05 0.700 0
dbSNP: rs766750282
rs766750282
GALNT3
1 1.000 2 165761939 frameshift variant -/G delins 1.6E-05 7.0E-06 0.700 0
dbSNP: rs775341386
rs775341386
GALNT3
1 1.000 2 165770196 stop gained G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs786205250
rs786205250
GALNT3
1 1.000 2 165764895 frameshift variant G/- del 0.700 0