SNP Links for Protein (Select 57163987) - SNP

Links from Protein

Items: 1 to 20 of 764

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Select item 14906114891.

rs1490611489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47466312 (GRCh38)
19:47969569 (GRCh37)
Canonical SPDI:: NC_000019.10:47466311:G:A
Gene:: SLC8A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.00001/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.47466312G>A, NC_000019.9:g.47969569G>A, NM_015063.3:c.92C>T, NM_015063.2:c.92C>T, NP_055878.1:p.Pro31Leu

Select item 14877258112.

rs1487725811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47465986 (GRCh38)
19:47969243 (GRCh37)
Canonical SPDI:: NC_000019.10:47465985:C:T
Gene:: SLC8A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47465986C>T, NC_000019.9:g.47969243C>T, NM_015063.3:c.418G>A, NM_015063.2:c.418G>A, NP_055878.1:p.Ala140Thr

Select item 14855798653.

rs1485579865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47457447 (GRCh38)
19:47960704 (GRCh37)
Canonical SPDI:: NC_000019.10:47457446:C:T
Gene:: SLC8A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47457447C>T, NC_000019.9:g.47960704C>T, NM_015063.3:c.823G>A, NM_015063.2:c.823G>A, NP_055878.1:p.Asp275Asn

Select item 14854617764.

rs1485461776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:47430433 (GRCh38)
19:47933690 (GRCh37)
Canonical SPDI:: NC_000019.10:47430432:C:A
Gene:: SLC8A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.47430433C>A, NC_000019.9:g.47933690C>A, NM_015063.3:c.2422G>T, NM_015063.2:c.2422G>T, NP_055878.1:p.Asp808Tyr

Select item 14845112025.

rs1484511202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47430110 (GRCh38)
19:47933367 (GRCh37)
Canonical SPDI:: NC_000019.10:47430109:G:A
Gene:: SLC8A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000019.10:g.47430110G>A, NC_000019.9:g.47933367G>A, NM_015063.3:c.2745C>T, NM_015063.2:c.2745C>T

Select item 14832566506.

rs1483256650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:47457142 (GRCh38)
19:47960399 (GRCh37)
Canonical SPDI:: NC_000019.10:47457141:C:G,NC_000019.10:47457141:C:T
Gene:: SLC8A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.47457142C>G, NC_000019.10:g.47457142C>T, NC_000019.9:g.47960399C>G, NC_000019.9:g.47960399C>T, NM_015063.3:c.1128G>C, NM_015063.3:c.1128G>A, NM_015063.2:c.1128G>C, NM_015063.2:c.1128G>A

Select item 14823162467.

rs1482316246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47466233 (GRCh38)
19:47969490 (GRCh37)
Canonical SPDI:: NC_000019.10:47466232:C:T
Gene:: SLC8A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.47466233C>T, NC_000019.9:g.47969490C>T, NM_015063.3:c.171G>A, NM_015063.2:c.171G>A

Select item 14821985528.

rs1482198552 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:47457070 (GRCh38)
19:47960327 (GRCh37)
Canonical SPDI:: NC_000019.10:47457069:A:G
Gene:: SLC8A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.47457070A>G, NC_000019.9:g.47960327A>G, NM_015063.3:c.1200T>C, NM_015063.2:c.1200T>C

Select item 14820746879.

rs1482074687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47430332 (GRCh38)
19:47933589 (GRCh37)
Canonical SPDI:: NC_000019.10:47430331:C:T
Gene:: SLC8A2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000019.10:g.47430332C>T, NC_000019.9:g.47933589C>T, NM_015063.3:c.2523G>A, NM_015063.2:c.2523G>A, NP_055878.1:p.Trp841Ter

Select item 147855081610.

rs1478550816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47457378 (GRCh38)
19:47960635 (GRCh37)
Canonical SPDI:: NC_000019.10:47457377:G:A
Gene:: SLC8A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47457378G>A, NC_000019.9:g.47960635G>A, NM_015063.3:c.892C>T, NM_015063.2:c.892C>T

Select item 147593078411.

rs1475930784 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:47432171 (GRCh38)
19:47935428 (GRCh37)
Canonical SPDI:: NC_000019.10:47432170:G:A
Gene:: SLC8A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47432171G>A, NC_000019.9:g.47935428G>A, NM_015063.3:c.2385C>T, NM_015063.2:c.2385C>T

Select item 147290338612.

rs1472903386 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:47457101 (GRCh38)
19:47960358 (GRCh37)
Canonical SPDI:: NC_000019.10:47457100:T:C
Gene:: SLC8A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.47457101T>C, NC_000019.9:g.47960358T>C, NM_015063.3:c.1169A>G, NM_015063.2:c.1169A>G, NP_055878.1:p.Asp390Gly

Select item 147073014313.

rs1470730143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47466283 (GRCh38)
19:47969540 (GRCh37)
Canonical SPDI:: NC_000019.10:47466282:C:T
Gene:: SLC8A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.47466283C>T, NC_000019.9:g.47969540C>T, NM_015063.3:c.121G>A, NM_015063.2:c.121G>A, NP_055878.1:p.Gly41Arg

Select item 147044870414.

rs1470448704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47465950 (GRCh38)
19:47969207 (GRCh37)
Canonical SPDI:: NC_000019.10:47465949:C:T
Gene:: SLC8A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.47465950C>T, NC_000019.9:g.47969207C>T, NM_015063.3:c.454G>A, NM_015063.2:c.454G>A, NP_055878.1:p.Gly152Ser

Select item 147018168415.

rs1470181684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47430123 (GRCh38)
19:47933380 (GRCh37)
Canonical SPDI:: NC_000019.10:47430122:C:T
Gene:: SLC8A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.47430123C>T, NC_000019.9:g.47933380C>T, NM_015063.3:c.2732G>A, NM_015063.2:c.2732G>A, NP_055878.1:p.Ser911Asn

Select item 146919394916.

rs1469193949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:47465746 (GRCh38)
19:47969003 (GRCh37)
Canonical SPDI:: NC_000019.10:47465745:A:T
Gene:: SLC8A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47465746A>T, NC_000019.9:g.47969003A>T, NM_015063.3:c.658T>A, NM_015063.2:c.658T>A, NP_055878.1:p.Ser220Thr

Select item 146886129417.

rs1468861294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47430446 (GRCh38)
19:47933703 (GRCh37)
Canonical SPDI:: NC_000019.10:47430445:C:T
Gene:: SLC8A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.47430446C>T, NC_000019.9:g.47933703C>T, NM_015063.3:c.2409G>A, NM_015063.2:c.2409G>A

Select item 146770280718.

rs1467702807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47437864 (GRCh38)
19:47941121 (GRCh37)
Canonical SPDI:: NC_000019.10:47437863:C:T
Gene:: SLC8A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.47437864C>T, NC_000019.9:g.47941121C>T, NM_015063.3:c.1995G>A, NM_015063.2:c.1995G>A

Select item 146738347819.

rs1467383478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:47430186 (GRCh38)
19:47933443 (GRCh37)
Canonical SPDI:: NC_000019.10:47430185:C:T
Gene:: SLC8A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.47430186C>T, NC_000019.9:g.47933443C>T, NM_015063.3:c.2669G>A, NM_015063.2:c.2669G>A, NP_055878.1:p.Gly890Glu

Select item 146668224920.

rs1466682249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:47447996 (GRCh38)
19:47951253 (GRCh37)
Canonical SPDI:: NC_000019.10:47447995:A:C
Gene:: SLC8A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.47447996A>C, NC_000019.9:g.47951253A>C, NM_015063.3:c.1576T>G, NM_015063.2:c.1576T>G, NP_055878.1:p.Ser526Ala

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