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: rs200697179
rs200697179
SLC12A3
1.000 0.120 16 56885363 missense variant C/G;T snv 2.5E-05; 1.3E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.820 1.000 0 1996 2015
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: 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: rs145337602
rs145337602
SLC12A3
1.000 0.120 16 56886384 missense variant C/T snv 4.0E-05 8.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 3 1998 2011
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: 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: 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: 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: 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: 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: 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: rs1555501632
rs1555501632
SLC12A3
1.000 0.120 16 56894585 frameshift variant G/- del
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs559626481
rs559626481
SLC12A3 ; MIR6863
1.000 0.120 16 56904401 missense variant C/A;T snv 1.2E-05; 4.0E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 1 2011 2011
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: rs34803727
rs34803727
SLC12A3
1.000 0.120 16 56913277 missense variant G/A snv 5.6E-05 4.9E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 0 1996 2015