SNP Links for Protein (Select 1007892890) - SNP

Select item 14907775941.

rs1490777594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42788360 (GRCh38)
17:40940378 (GRCh37)
Canonical SPDI:: NC_000017.11:42788359:G:A
Gene:: WNK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42788360G>A, NC_000017.10:g.40940378G>A, NG_016227.1:g.12730G>A, NM_032387.5:c.1993G>A, NM_032387.4:c.1993G>A, NM_001321299.2:c.985G>A, NM_001321299.1:c.985G>A, XM_017024962.2:c.1993G>A, XM_017024962.1:c.1993G>A, XM_017024966.2:c.985G>A, XM_017024966.1:c.985G>A, XM_047436554.1:c.1993G>A, XM_047436558.1:c.1993G>A, XM_047436556.1:c.1993G>A, XM_047436557.1:c.1993G>A, XM_047436559.1:c.1993G>A, XM_047436560.1:c.1993G>A, XM_047436561.1:c.1993G>A, XM_047436562.1:c.1993G>A, XM_047436563.1:c.1993G>A, NP_115763.2:p.Gly665Arg, NP_001308228.1:p.Gly329Arg, XP_016880451.1:p.Gly665Arg, XP_016880455.1:p.Gly329Arg, XP_047292510.1:p.Gly665Arg, XP_047292514.1:p.Gly665Arg, XP_047292512.1:p.Gly665Arg, XP_047292513.1:p.Gly665Arg, XP_047292515.1:p.Gly665Arg, XP_047292516.1:p.Gly665Arg, XP_047292517.1:p.Gly665Arg, XP_047292518.1:p.Gly665Arg, XP_047292519.1:p.Gly665Arg

Select item 14893037922.

rs1489303792 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42795715 (GRCh38)
17:40947733 (GRCh37)
Canonical SPDI:: NC_000017.11:42795714:T:C
Gene:: WNK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42795715T>C, NC_000017.10:g.40947733T>C, NG_016227.1:g.20085T>C, NM_032387.5:c.3113T>C, NM_032387.4:c.3113T>C, NM_001321299.2:c.2105T>C, NM_001321299.1:c.2105T>C, NG_046771.1:g.8011A>G, XM_017024962.2:c.3113T>C, XM_017024962.1:c.3113T>C, XM_017024966.2:c.2105T>C, XM_017024966.1:c.2105T>C, XM_047436554.1:c.3110T>C, XM_047436558.1:c.3110T>C, XM_047436556.1:c.2975T>C, XM_047436557.1:c.2972T>C, XM_047436559.1:c.3113T>C, XM_047436560.1:c.3110T>C, XM_047436561.1:c.2975T>C, XM_047436562.1:c.2972T>C, XM_047436563.1:c.2975T>C, NP_115763.2:p.Leu1038Pro, NP_001308228.1:p.Leu702Pro, XP_016880451.1:p.Leu1038Pro, XP_016880455.1:p.Leu702Pro, XP_047292510.1:p.Leu1037Pro, XP_047292514.1:p.Leu1037Pro, XP_047292512.1:p.Leu992Pro, XP_047292513.1:p.Leu991Pro, XP_047292515.1:p.Leu1038Pro, XP_047292516.1:p.Leu1037Pro, XP_047292517.1:p.Leu992Pro, XP_047292518.1:p.Leu991Pro, XP_047292519.1:p.Leu992Pro

Select item 14891490283.

rs1489149028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:42796169 (GRCh38)
17:40948187 (GRCh37)
Canonical SPDI:: NC_000017.11:42796168:A:G
Gene:: WNK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.42796169A>G, NC_000017.10:g.40948187A>G, NG_016227.1:g.20539A>G, NM_032387.5:c.3478A>G, NM_032387.4:c.3478A>G, NM_001321299.2:c.2470A>G, NM_001321299.1:c.2470A>G, NG_046771.1:g.7557T>C, XM_017024962.2:c.3478A>G, XM_017024962.1:c.3478A>G, XM_017024966.2:c.2470A>G, XM_017024966.1:c.2470A>G, XM_047436554.1:c.3475A>G, XM_047436558.1:c.3475A>G, XM_047436556.1:c.3340A>G, XM_047436557.1:c.3337A>G, XM_047436559.1:c.3478A>G, XM_047436560.1:c.3475A>G, XM_047436561.1:c.3340A>G, XM_047436562.1:c.3337A>G, XM_047436563.1:c.3340A>G, NP_115763.2:p.Ile1160Val, NP_001308228.1:p.Ile824Val, XP_016880451.1:p.Ile1160Val, XP_016880455.1:p.Ile824Val, XP_047292510.1:p.Ile1159Val, XP_047292514.1:p.Ile1159Val, XP_047292512.1:p.Ile1114Val, XP_047292513.1:p.Ile1113Val, XP_047292515.1:p.Ile1160Val, XP_047292516.1:p.Ile1159Val, XP_047292517.1:p.Ile1114Val, XP_047292518.1:p.Ile1113Val, XP_047292519.1:p.Ile1114Val

Select item 14867798784.

rs1486779878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42794939 (GRCh38)
17:40946957 (GRCh37)
Canonical SPDI:: NC_000017.11:42794938:C:T
Gene:: WNK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42794939C>T, NC_000017.10:g.40946957C>T, NG_016227.1:g.19309C>T, NM_032387.5:c.2518C>T, NM_032387.4:c.2518C>T, NM_001321299.2:c.1510C>T, NM_001321299.1:c.1510C>T, XM_017024962.2:c.2518C>T, XM_017024962.1:c.2518C>T, XM_017024966.2:c.1510C>T, XM_017024966.1:c.1510C>T, XM_047436554.1:c.2515C>T, XM_047436558.1:c.2515C>T, XM_047436556.1:c.2380C>T, XM_047436557.1:c.2377C>T, XM_047436559.1:c.2518C>T, XM_047436560.1:c.2515C>T, XM_047436561.1:c.2380C>T, XM_047436562.1:c.2377C>T, XM_047436563.1:c.2380C>T, NP_115763.2:p.Pro840Ser, NP_001308228.1:p.Pro504Ser, XP_016880451.1:p.Pro840Ser, XP_016880455.1:p.Pro504Ser, XP_047292510.1:p.Pro839Ser, XP_047292514.1:p.Pro839Ser, XP_047292512.1:p.Pro794Ser, XP_047292513.1:p.Pro793Ser, XP_047292515.1:p.Pro840Ser, XP_047292516.1:p.Pro839Ser, XP_047292517.1:p.Pro794Ser, XP_047292518.1:p.Pro793Ser, XP_047292519.1:p.Pro794Ser

Select item 14860964655.

rs1486096465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42795659 (GRCh38)
17:40947677 (GRCh37)
Canonical SPDI:: NC_000017.11:42795658:G:A
Gene:: WNK4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
A=0.000684/2 (KOREAN)
HGVS:: NC_000017.11:g.42795659G>A, NC_000017.10:g.40947677G>A, NG_016227.1:g.20029G>A, NM_032387.5:c.3057G>A, NM_032387.4:c.3057G>A, NM_001321299.2:c.2049G>A, NM_001321299.1:c.2049G>A, NG_046771.1:g.8067C>T, XM_017024962.2:c.3057G>A, XM_017024962.1:c.3057G>A, XM_017024966.2:c.2049G>A, XM_017024966.1:c.2049G>A, XM_047436554.1:c.3054G>A, XM_047436558.1:c.3054G>A, XM_047436556.1:c.2919G>A, XM_047436557.1:c.2916G>A, XM_047436559.1:c.3057G>A, XM_047436560.1:c.3054G>A, XM_047436561.1:c.2919G>A, XM_047436562.1:c.2916G>A, XM_047436563.1:c.2919G>A

Select item 14855976016.

rs1485597601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42788183 (GRCh38)
17:40940201 (GRCh37)
Canonical SPDI:: NC_000017.11:42788182:G:A
Gene:: WNK4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.42788183G>A, NC_000017.10:g.40940201G>A, NG_016227.1:g.12553G>A, NM_032387.5:c.1917G>A, NM_032387.4:c.1917G>A, NM_001321299.2:c.909G>A, NM_001321299.1:c.909G>A, XM_017024962.2:c.1917G>A, XM_017024962.1:c.1917G>A, XM_017024966.2:c.909G>A, XM_017024966.1:c.909G>A, XM_047436554.1:c.1917G>A, XM_047436558.1:c.1917G>A, XM_047436556.1:c.1917G>A, XM_047436557.1:c.1917G>A, XM_047436559.1:c.1917G>A, XM_047436560.1:c.1917G>A, XM_047436561.1:c.1917G>A, XM_047436562.1:c.1917G>A, XM_047436563.1:c.1917G>A

Select item 14849288267.

rs1484928826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42795087 (GRCh38)
17:40947105 (GRCh37)
Canonical SPDI:: NC_000017.11:42795086:C:T
Gene:: WNK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42795087C>T, NC_000017.10:g.40947105C>T, NG_016227.1:g.19457C>T, NM_032387.5:c.2666C>T, NM_032387.4:c.2666C>T, NM_001321299.2:c.1658C>T, NM_001321299.1:c.1658C>T, XM_017024962.2:c.2666C>T, XM_017024962.1:c.2666C>T, XM_017024966.2:c.1658C>T, XM_017024966.1:c.1658C>T, XM_047436554.1:c.2663C>T, XM_047436558.1:c.2663C>T, XM_047436556.1:c.2528C>T, XM_047436557.1:c.2525C>T, XM_047436559.1:c.2666C>T, XM_047436560.1:c.2663C>T, XM_047436561.1:c.2528C>T, XM_047436562.1:c.2525C>T, XM_047436563.1:c.2528C>T, NP_115763.2:p.Pro889Leu, NP_001308228.1:p.Pro553Leu, XP_016880451.1:p.Pro889Leu, XP_016880455.1:p.Pro553Leu, XP_047292510.1:p.Pro888Leu, XP_047292514.1:p.Pro888Leu, XP_047292512.1:p.Pro843Leu, XP_047292513.1:p.Pro842Leu, XP_047292515.1:p.Pro889Leu, XP_047292516.1:p.Pro888Leu, XP_047292517.1:p.Pro843Leu, XP_047292518.1:p.Pro842Leu, XP_047292519.1:p.Pro843Leu

Select item 14849241888.

rs1484924188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:42793649 (GRCh38)
17:40945667 (GRCh37)
Canonical SPDI:: NC_000017.11:42793648:G:T
Gene:: WNK4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.42793649G>T, NC_000017.10:g.40945667G>T, NG_016227.1:g.18019G>T, NM_032387.5:c.2215G>T, NM_032387.4:c.2215G>T, NM_001321299.2:c.1207G>T, NM_001321299.1:c.1207G>T, XM_017024962.2:c.2215G>T, XM_017024962.1:c.2215G>T, XM_017024966.2:c.1207G>T, XM_017024966.1:c.1207G>T, XM_047436554.1:c.2215G>T, XM_047436558.1:c.2215G>T, XM_047436559.1:c.2215G>T, XM_047436560.1:c.2215G>T, NP_115763.2:p.Glu739Ter, NP_001308228.1:p.Glu403Ter, XP_016880451.1:p.Glu739Ter, XP_016880455.1:p.Glu403Ter, XP_047292510.1:p.Glu739Ter, XP_047292514.1:p.Glu739Ter, XP_047292515.1:p.Glu739Ter, XP_047292516.1:p.Glu739Ter

Select item 14846184519.

rs1484618451 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42787791 (GRCh38)
17:40939809 (GRCh37)
Canonical SPDI:: NC_000017.11:42787790:T:C
Gene:: WNK4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000602/10 (TOMMO)
HGVS:: NC_000017.11:g.42787791T>C, NC_000017.10:g.40939809T>C, NG_016227.1:g.12161T>C, NM_032387.5:c.1755T>C, NM_032387.4:c.1755T>C, NM_001321299.2:c.747T>C, NM_001321299.1:c.747T>C, XM_017024962.2:c.1755T>C, XM_017024962.1:c.1755T>C, XM_017024966.2:c.747T>C, XM_017024966.1:c.747T>C, XM_047436554.1:c.1755T>C, XM_047436558.1:c.1755T>C, XM_047436556.1:c.1755T>C, XM_047436557.1:c.1755T>C, XM_047436559.1:c.1755T>C, XM_047436560.1:c.1755T>C, XM_047436561.1:c.1755T>C, XM_047436562.1:c.1755T>C, XM_047436563.1:c.1755T>C

Select item 148226730210.

rs1482267302 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:42784482 (GRCh38)
17:40936500 (GRCh37)
Canonical SPDI:: NC_000017.11:42784481:T:A
Gene:: WNK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42784482T>A, NC_000017.10:g.40936500T>A, NG_016227.1:g.8852T>A, NM_032387.5:c.1073T>A, NM_032387.4:c.1073T>A, NM_001321299.2:c.154T>A, NM_001321299.1:c.154T>A, XM_017024962.2:c.1073T>A, XM_017024962.1:c.1073T>A, XM_017024966.2:c.154T>A, XM_017024966.1:c.154T>A, XM_047436554.1:c.1073T>A, XM_047436558.1:c.1073T>A, XM_047436556.1:c.1073T>A, XM_047436557.1:c.1073T>A, XM_047436559.1:c.1073T>A, XM_047436560.1:c.1073T>A, XM_047436561.1:c.1073T>A, XM_047436562.1:c.1073T>A, XM_047436563.1:c.1073T>A, NP_115763.2:p.Val358Glu, NP_001308228.1:p.Cys52Ser, XP_016880451.1:p.Val358Glu, XP_016880455.1:p.Cys52Ser, XP_047292510.1:p.Val358Glu, XP_047292514.1:p.Val358Glu, XP_047292512.1:p.Val358Glu, XP_047292513.1:p.Val358Glu, XP_047292515.1:p.Val358Glu, XP_047292516.1:p.Val358Glu, XP_047292517.1:p.Val358Glu, XP_047292518.1:p.Val358Glu, XP_047292519.1:p.Val358Glu

Select item 148116463511.

rs1481164635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42795908 (GRCh38)
17:40947926 (GRCh37)
Canonical SPDI:: NC_000017.11:42795907:C:T
Gene:: WNK4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42795908C>T, NC_000017.10:g.40947926C>T, NG_016227.1:g.20278C>T, NM_032387.5:c.3306C>T, NM_032387.4:c.3306C>T, NM_001321299.2:c.2298C>T, NM_001321299.1:c.2298C>T, NG_046771.1:g.7818G>A, XM_017024962.2:c.3306C>T, XM_017024962.1:c.3306C>T, XM_017024966.2:c.2298C>T, XM_017024966.1:c.2298C>T, XM_047436554.1:c.3303C>T, XM_047436558.1:c.3303C>T, XM_047436556.1:c.3168C>T, XM_047436557.1:c.3165C>T, XM_047436559.1:c.3306C>T, XM_047436560.1:c.3303C>T, XM_047436561.1:c.3168C>T, XM_047436562.1:c.3165C>T, XM_047436563.1:c.3168C>T

Select item 148099278412.

rs1480992784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42787785 (GRCh38)
17:40939803 (GRCh37)
Canonical SPDI:: NC_000017.11:42787784:C:T
Gene:: WNK4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000109/3 (ALFA)
T=0.00002/5 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.000045/12 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.42787785C>T, NC_000017.10:g.40939803C>T, NG_016227.1:g.12155C>T, NM_032387.5:c.1749C>T, NM_032387.4:c.1749C>T, NM_001321299.2:c.741C>T, NM_001321299.1:c.741C>T, XM_017024962.2:c.1749C>T, XM_017024962.1:c.1749C>T, XM_017024966.2:c.741C>T, XM_017024966.1:c.741C>T, XM_047436554.1:c.1749C>T, XM_047436558.1:c.1749C>T, XM_047436556.1:c.1749C>T, XM_047436557.1:c.1749C>T, XM_047436559.1:c.1749C>T, XM_047436560.1:c.1749C>T, XM_047436561.1:c.1749C>T, XM_047436562.1:c.1749C>T, XM_047436563.1:c.1749C>T

Select item 148033104613.

rs1480331046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:42795856 (GRCh38)
17:40947874 (GRCh37)
Canonical SPDI:: NC_000017.11:42795855:A:G
Gene:: WNK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.42795856A>G, NC_000017.10:g.40947874A>G, NG_016227.1:g.20226A>G, NM_032387.5:c.3254A>G, NM_032387.4:c.3254A>G, NM_001321299.2:c.2246A>G, NM_001321299.1:c.2246A>G, NG_046771.1:g.7870T>C, XM_017024962.2:c.3254A>G, XM_017024962.1:c.3254A>G, XM_017024966.2:c.2246A>G, XM_017024966.1:c.2246A>G, XM_047436554.1:c.3251A>G, XM_047436558.1:c.3251A>G, XM_047436556.1:c.3116A>G, XM_047436557.1:c.3113A>G, XM_047436559.1:c.3254A>G, XM_047436560.1:c.3251A>G, XM_047436561.1:c.3116A>G, XM_047436562.1:c.3113A>G, XM_047436563.1:c.3116A>G, NP_115763.2:p.Glu1085Gly, NP_001308228.1:p.Glu749Gly, XP_016880451.1:p.Glu1085Gly, XP_016880455.1:p.Glu749Gly, XP_047292510.1:p.Glu1084Gly, XP_047292514.1:p.Glu1084Gly, XP_047292512.1:p.Glu1039Gly, XP_047292513.1:p.Glu1038Gly, XP_047292515.1:p.Glu1085Gly, XP_047292516.1:p.Glu1084Gly, XP_047292517.1:p.Glu1039Gly, XP_047292518.1:p.Glu1038Gly, XP_047292519.1:p.Glu1039Gly

Select item 147920575114.

rs1479205751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42784555 (GRCh38)
17:40936573 (GRCh37)
Canonical SPDI:: NC_000017.11:42784554:G:A
Gene:: WNK4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42784555G>A, NC_000017.10:g.40936573G>A, NG_016227.1:g.8925G>A, NM_032387.5:c.1146G>A, NM_032387.4:c.1146G>A, NM_001321299.2:c.227G>A, NM_001321299.1:c.227G>A, XM_017024962.2:c.1146G>A, XM_017024962.1:c.1146G>A, XM_017024966.2:c.227G>A, XM_017024966.1:c.227G>A, XM_047436554.1:c.1146G>A, XM_047436558.1:c.1146G>A, XM_047436556.1:c.1146G>A, XM_047436557.1:c.1146G>A, XM_047436559.1:c.1146G>A, XM_047436560.1:c.1146G>A, XM_047436561.1:c.1146G>A, XM_047436562.1:c.1146G>A, XM_047436563.1:c.1146G>A, NP_001308228.1:p.Arg76His, XP_016880455.1:p.Arg76His

Select item 147883345215.

rs1478833452 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42794942 (GRCh38)
17:40946960 (GRCh37)
Canonical SPDI:: NC_000017.11:42794941:T:C
Gene:: WNK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00278/33 (ALFA)
C=0.04452/130 (KOREAN)
HGVS:: NC_000017.11:g.42794942T>C, NC_000017.10:g.40946960T>C, NG_016227.1:g.19312T>C, NM_032387.5:c.2521T>C, NM_032387.4:c.2521T>C, NM_001321299.2:c.1513T>C, NM_001321299.1:c.1513T>C, XM_017024962.2:c.2521T>C, XM_017024962.1:c.2521T>C, XM_017024966.2:c.1513T>C, XM_017024966.1:c.1513T>C, XM_047436554.1:c.2518T>C, XM_047436558.1:c.2518T>C, XM_047436556.1:c.2383T>C, XM_047436557.1:c.2380T>C, XM_047436559.1:c.2521T>C, XM_047436560.1:c.2518T>C, XM_047436561.1:c.2383T>C, XM_047436562.1:c.2380T>C, XM_047436563.1:c.2383T>C, NP_115763.2:p.Ser841Pro, NP_001308228.1:p.Ser505Pro, XP_016880451.1:p.Ser841Pro, XP_016880455.1:p.Ser505Pro, XP_047292510.1:p.Ser840Pro, XP_047292514.1:p.Ser840Pro, XP_047292512.1:p.Ser795Pro, XP_047292513.1:p.Ser794Pro, XP_047292515.1:p.Ser841Pro, XP_047292516.1:p.Ser840Pro, XP_047292517.1:p.Ser795Pro, XP_047292518.1:p.Ser794Pro, XP_047292519.1:p.Ser795Pro

Select item 147807546716.

rs1478075467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42794654 (GRCh38)
17:40946672 (GRCh37)
Canonical SPDI:: NC_000017.11:42794653:C:G
Gene:: WNK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42794654C>G, NC_000017.10:g.40946672C>G, NG_016227.1:g.19024C>G, NM_032387.5:c.2336C>G, NM_032387.4:c.2336C>G, NM_001321299.2:c.1328C>G, NM_001321299.1:c.1328C>G, XM_017024962.2:c.2336C>G, XM_017024962.1:c.2336C>G, XM_017024966.2:c.1328C>G, XM_017024966.1:c.1328C>G, XM_047436554.1:c.2336C>G, XM_047436558.1:c.2336C>G, XM_047436556.1:c.2198C>G, XM_047436557.1:c.2198C>G, XM_047436559.1:c.2336C>G, XM_047436560.1:c.2336C>G, XM_047436561.1:c.2198C>G, XM_047436562.1:c.2198C>G, XM_047436563.1:c.2198C>G, NP_115763.2:p.Pro779Arg, NP_001308228.1:p.Pro443Arg, XP_016880451.1:p.Pro779Arg, XP_016880455.1:p.Pro443Arg, XP_047292510.1:p.Pro779Arg, XP_047292514.1:p.Pro779Arg, XP_047292512.1:p.Pro733Arg, XP_047292513.1:p.Pro733Arg, XP_047292515.1:p.Pro779Arg, XP_047292516.1:p.Pro779Arg, XP_047292517.1:p.Pro733Arg, XP_047292518.1:p.Pro733Arg, XP_047292519.1:p.Pro733Arg

Select item 147699605417.

rs1476996054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:42796264 (GRCh38)
17:40948282 (GRCh37)
Canonical SPDI:: NC_000017.11:42796263:G:C
Gene:: WNK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42796264G>C, NC_000017.10:g.40948282G>C, NG_016227.1:g.20634G>C, NM_032387.5:c.3573G>C, NM_032387.4:c.3573G>C, NM_001321299.2:c.2565G>C, NM_001321299.1:c.2565G>C, NG_046771.1:g.7462C>G, XM_017024962.2:c.3573G>C, XM_017024962.1:c.3573G>C, XM_017024966.2:c.2565G>C, XM_017024966.1:c.2565G>C, XM_047436554.1:c.3570G>C, XM_047436558.1:c.3570G>C, XM_047436556.1:c.3435G>C, XM_047436557.1:c.3432G>C, XM_047436559.1:c.3573G>C, XM_047436560.1:c.3570G>C, XM_047436561.1:c.3435G>C, XM_047436562.1:c.3432G>C, XM_047436563.1:c.3435G>C, NP_115763.2:p.Lys1191Asn, NP_001308228.1:p.Lys855Asn, XP_016880451.1:p.Lys1191Asn, XP_016880455.1:p.Lys855Asn, XP_047292510.1:p.Lys1190Asn, XP_047292514.1:p.Lys1190Asn, XP_047292512.1:p.Lys1145Asn, XP_047292513.1:p.Lys1144Asn, XP_047292515.1:p.Lys1191Asn, XP_047292516.1:p.Lys1190Asn, XP_047292517.1:p.Lys1145Asn, XP_047292518.1:p.Lys1144Asn, XP_047292519.1:p.Lys1145Asn

Select item 147657449318.

rs1476574493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42796317 (GRCh38)
17:40948335 (GRCh37)
Canonical SPDI:: NC_000017.11:42796316:G:A
Gene:: WNK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42796317G>A, NC_000017.10:g.40948335G>A, NG_016227.1:g.20687G>A, NM_032387.5:c.3626G>A, NM_032387.4:c.3626G>A, NM_001321299.2:c.2618G>A, NM_001321299.1:c.2618G>A, NG_046771.1:g.7409C>T, XM_017024962.2:c.3626G>A, XM_017024962.1:c.3626G>A, XM_017024966.2:c.2618G>A, XM_017024966.1:c.2618G>A, XM_047436554.1:c.3623G>A, XM_047436558.1:c.3623G>A, XM_047436556.1:c.3488G>A, XM_047436557.1:c.3485G>A, XM_047436559.1:c.3626G>A, XM_047436560.1:c.3623G>A, XM_047436561.1:c.3488G>A, XM_047436562.1:c.3485G>A, XM_047436563.1:c.3488G>A, NP_115763.2:p.Gly1209Asp, NP_001308228.1:p.Gly873Asp, XP_016880451.1:p.Gly1209Asp, XP_016880455.1:p.Gly873Asp, XP_047292510.1:p.Gly1208Asp, XP_047292514.1:p.Gly1208Asp, XP_047292512.1:p.Gly1163Asp, XP_047292513.1:p.Gly1162Asp, XP_047292515.1:p.Gly1209Asp, XP_047292516.1:p.Gly1208Asp, XP_047292517.1:p.Gly1163Asp, XP_047292518.1:p.Gly1162Asp, XP_047292519.1:p.Gly1163Asp

Select item 147491850019.

rs1474918500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:42795724 (GRCh38)
17:40947742 (GRCh37)
Canonical SPDI:: NC_000017.11:42795723:C:A
Gene:: WNK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42795724C>A, NC_000017.10:g.40947742C>A, NG_016227.1:g.20094C>A, NM_032387.5:c.3122C>A, NM_032387.4:c.3122C>A, NM_001321299.2:c.2114C>A, NM_001321299.1:c.2114C>A, NG_046771.1:g.8002G>T, XM_017024962.2:c.3122C>A, XM_017024962.1:c.3122C>A, XM_017024966.2:c.2114C>A, XM_017024966.1:c.2114C>A, XM_047436554.1:c.3119C>A, XM_047436558.1:c.3119C>A, XM_047436556.1:c.2984C>A, XM_047436557.1:c.2981C>A, XM_047436559.1:c.3122C>A, XM_047436560.1:c.3119C>A, XM_047436561.1:c.2984C>A, XM_047436562.1:c.2981C>A, XM_047436563.1:c.2984C>A, NP_115763.2:p.Ser1041Tyr, NP_001308228.1:p.Ser705Tyr, XP_016880451.1:p.Ser1041Tyr, XP_016880455.1:p.Ser705Tyr, XP_047292510.1:p.Ser1040Tyr, XP_047292514.1:p.Ser1040Tyr, XP_047292512.1:p.Ser995Tyr, XP_047292513.1:p.Ser994Tyr, XP_047292515.1:p.Ser1041Tyr, XP_047292516.1:p.Ser1040Tyr, XP_047292517.1:p.Ser995Tyr, XP_047292518.1:p.Ser994Tyr, XP_047292519.1:p.Ser995Tyr

Select item 147479875920.

rs1474798759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42795323 (GRCh38)
17:40947341 (GRCh37)
Canonical SPDI:: NC_000017.11:42795322:C:T
Gene:: WNK4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42795323C>T, NC_000017.10:g.40947341C>T, NG_016227.1:g.19693C>T, NM_032387.5:c.2902C>T, NM_032387.4:c.2902C>T, NM_001321299.2:c.1894C>T, NM_001321299.1:c.1894C>T, XM_017024962.2:c.2902C>T, XM_017024962.1:c.2902C>T, XM_017024966.2:c.1894C>T, XM_017024966.1:c.1894C>T, XM_047436554.1:c.2899C>T, XM_047436558.1:c.2899C>T, XM_047436556.1:c.2764C>T, XM_047436557.1:c.2761C>T, XM_047436559.1:c.2902C>T, XM_047436560.1:c.2899C>T, XM_047436561.1:c.2764C>T, XM_047436562.1:c.2761C>T, XM_047436563.1:c.2764C>T, NP_115763.2:p.Pro968Ser, NP_001308228.1:p.Pro632Ser, XP_016880451.1:p.Pro968Ser, XP_016880455.1:p.Pro632Ser, XP_047292510.1:p.Pro967Ser, XP_047292514.1:p.Pro967Ser, XP_047292512.1:p.Pro922Ser, XP_047292513.1:p.Pro921Ser, XP_047292515.1:p.Pro968Ser, XP_047292516.1:p.Pro967Ser, XP_047292517.1:p.Pro922Ser, XP_047292518.1:p.Pro921Ser, XP_047292519.1:p.Pro922Ser

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Result Filters

Clinical Significance

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Annotation

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Custom range

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Items: 1 to 20 of 998

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