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: 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: 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: rs200817545
rs200817545
SLC12A3
0.925 0.160 16 56879168 missense variant A/C;G;T snv 4.0E-06; 1.6E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.710 < 0.001 0 2017 2017
dbSNP: rs28936387
rs28936387
SLC12A3
1.000 0.120 16 56879153 missense variant T/C snv 7.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 0 1996 2015
dbSNP: rs28936388
rs28936388
SLC12A3
1.000 0.120 16 56870119 missense variant C/T snv 1.2E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.810 1.000 0 1996 2015
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
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: rs775931992
rs775931992
SLC12A3
1.000 0.120 16 56879087 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.810 1.000 0 1996 2015
dbSNP: rs886039754
rs886039754
SLC12A3
1.000 0.120 16 56885358 missense variant A/G snv 6.3E-06; 1.3E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.710 1.000 0 2018 2018
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: 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: rs1555499234
rs1555499234
SLC12A3
1.000 0.120 16 56867070 frameshift variant C/- del
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: rs886041108
rs886041108
SLC12A3
1.000 0.120 16 56879543 frameshift variant C/- delins
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