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: rs529924080
rs529924080
TRPV6
1 7 142876777 missense variant A/C;G snv 1.4E-04 0.700 1.000 2 2018 2019
dbSNP: rs1281361203
rs1281361203
TRPV6
1 7 142875133 missense variant C/T snv 1.4E-05 0.700 1.000 1 2018 2018
dbSNP: rs759393722
rs759393722
TRPV6
1 7 142874958 missense variant C/T snv 1.6E-05 0.700 1.000 1 2018 2018
dbSNP: rs1200458339
rs1200458339
TRPV6
1 7 142877137 splice region variant C/T snv 0.700 0
dbSNP: rs1342435095
rs1342435095
TRPV6
1 7 142875808 frameshift variant CT/- del 7.0E-06 0.700 0
dbSNP: rs766719790
rs766719790
TRPV6
1 7 142877215 frameshift variant -/AGCA delins 4.0E-06; 4.0E-05 7.0E-06 0.700 0