Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs13306668
rs13306668
SLC12A3
1.000 0.120 16 56879088 missense variant G/A;C;T snv 5.7E-05; 4.0E-06; 2.8E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs1555499151
rs1555499151
SLC12A3
1.000 0.120 16 56865506 missense variant T/C snv
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs1555499234
rs1555499234
SLC12A3
1.000 0.120 16 56867070 frameshift variant C/- del
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs1555501437
rs1555501437
SLC12A3
1.000 0.120 16 56893028 missense variant A/G snv
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs1555501632
rs1555501632
SLC12A3
1.000 0.120 16 56894585 frameshift variant G/- del
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs201555148
rs201555148
SLC12A3
1.000 0.120 16 56869728 splice acceptor variant G/A snv 5.2E-05 1.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs749098014
rs749098014
SLC12A3
1.000 0.120 16 56878162 splice donor variant G/T snv 2.8E-05 1.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs752101663
rs752101663
SLC12A3
1.000 0.120 16 56887937 missense variant G/A snv 2.4E-05 4.9E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 0
dbSNP: rs759801838
rs759801838
SLC12A3
1.000 0.120 16 56879227 splice donor variant GTACTG/- delins 1.6E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs886041108
rs886041108
SLC12A3
1.000 0.120 16 56879543 frameshift variant C/- delins
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs185927948
rs185927948
SLC12A3
1.000 0.120 16 56894555 missense variant T/A snv 6.0E-05 1.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.810 1.000 12 1996 2016
dbSNP: rs147901432
rs147901432
SLC12A3
1.000 0.120 16 56885364 missense variant G/A snv 2.8E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 11 1996 2015
dbSNP: rs759377924
rs759377924
SLC12A3
0.882 0.200 16 56879207 missense variant G/A snv 1.6E-04 8.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 11 1996 2015
dbSNP: rs371443644
rs371443644
SLC12A3
0.925 0.160 16 56865414 missense variant C/T snv 5.6E-05 4.2E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.830 1.000 9 1996 2016
dbSNP: rs140012781
rs140012781
SLC12A3
1.000 0.120 16 56886366 missense variant C/T snv 1.6E-04 1.3E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 8 1996 2017
dbSNP: rs373899077
rs373899077
SLC12A3
1.000 0.120 16 56894563 missense variant C/T snv 8.8E-05 1.1E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 7 1996 2016
dbSNP: rs138977195
rs138977195
SLC12A3
1.000 0.120 16 56887967 missense variant G/A snv 3.7E-04 4.1E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 6 1996 2016
dbSNP: rs201945662
rs201945662
SLC12A3
1.000 0.120 16 56879596 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 6 1996 2015
dbSNP: rs202114767
rs202114767
SLC12A3 ; MIR6863
1.000 0.120 16 56904402 missense variant G/A snv 1.5E-04 7.7E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 5 1996 2012
dbSNP: rs121909379
rs121909379
SLC12A3
1.000 0.120 16 56894558 missense variant T/C snv 1.2E-04 1.7E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 2 1996 2016
dbSNP: rs146632606
rs146632606
SLC12A3
1.000 0.120 16 56867150 missense variant G/C snv 9.3E-04 1.0E-03
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 2 1996 2015
dbSNP: rs201255508
rs201255508
SLC12A3
1.000 0.120 16 56865482 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 1 1996 2015
dbSNP: rs121909380
rs121909380
SLC12A3
1.000 0.120 16 56886402 missense variant G/A;T snv 8.0E-05; 8.0E-06; 4.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 0 1996 2015
dbSNP: rs121909382
rs121909382
SLC12A3
1.000 0.120 16 56884142 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.810 1.000 0 1996 2018
dbSNP: rs121909383
rs121909383
SLC12A3
1.000 0.120 16 56872737 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 0 1996 2015