SNP Links for Protein (Select 21361212) - SNP

Links from Protein

Items: 1 to 20 of 166

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Select item 14849544501.

rs1484954450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:203867974 (GRCh38)
2:204732697 (GRCh37)
Canonical SPDI:: NC_000002.12:203867973:C:G
Gene:: CTLA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.203867974C>G, NC_000002.11:g.204732697C>G, NG_011502.1:g.5189C>G, NM_005214.5:c.32C>G, NM_005214.4:c.32C>G, NM_001037631.3:c.32C>G, NM_001037631.2:c.32C>G, NP_005205.2:p.Ala11Gly, NP_001032720.1:p.Ala11Gly

Select item 14841095032.

rs1484109503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:203867992 (GRCh38)
2:204732715 (GRCh37)
Canonical SPDI:: NC_000002.12:203867991:C:G
Gene:: CTLA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.203867992C>G, NC_000002.11:g.204732715C>G, NG_011502.1:g.5207C>G, NM_005214.5:c.50C>G, NM_005214.4:c.50C>G, NM_001037631.3:c.50C>G, NM_001037631.2:c.50C>G, NP_005205.2:p.Thr17Ser, NP_001032720.1:p.Thr17Ser

Select item 14782831463.

rs1478283146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:203870707 (GRCh38)
2:204735430 (GRCh37)
Canonical SPDI:: NC_000002.12:203870706:T:C
Gene:: CTLA4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.203870707T>C, NC_000002.11:g.204735430T>C, NG_011502.1:g.7922T>C, NM_005214.5:c.231T>C, NM_005214.4:c.231T>C, NM_001037631.3:c.231T>C, NM_001037631.2:c.231T>C

Select item 14661527244.

rs1466152724 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:203870915 (GRCh38)
2:204735638 (GRCh37)
Canonical SPDI:: NC_000002.12:203870914:A:G
Gene:: CTLA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.203870915A>G, NC_000002.11:g.204735638A>G, NG_011502.1:g.8130A>G, NM_005214.5:c.439A>G, NM_005214.4:c.439A>G, NM_001037631.3:c.439A>G, NM_001037631.2:c.439A>G, NP_005205.2:p.Thr147Ala, NP_001032720.1:p.Thr147Ala

Select item 14612081415.

rs1461208141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:203868041 (GRCh38)
2:204732764 (GRCh37)
Canonical SPDI:: NC_000002.12:203868040:C:T
Gene:: CTLA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.203868041C>T, NC_000002.11:g.204732764C>T, NG_011502.1:g.5256C>T, NM_005214.5:c.99C>T, NM_005214.4:c.99C>T, NM_001037631.3:c.99C>T, NM_001037631.2:c.99C>T

Select item 14513261526.

rs1451326152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:203870810 (GRCh38)
2:204735533 (GRCh37)
Canonical SPDI:: NC_000002.12:203870809:G:A
Gene:: CTLA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.203870810G>A, NC_000002.11:g.204735533G>A, NG_011502.1:g.8025G>A, NM_005214.5:c.334G>A, NM_005214.4:c.334G>A, NM_001037631.3:c.334G>A, NM_001037631.2:c.334G>A, NP_005205.2:p.Val112Met, NP_001032720.1:p.Val112Met

Select item 14443671757.

rs1444367175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:203872808 (GRCh38)
2:204737531 (GRCh37)
Canonical SPDI:: NC_000002.12:203872807:A:G
Gene:: CTLA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.203872808A>G, NC_000002.11:g.204737531A>G, NG_011502.1:g.10023A>G, NM_005214.5:c.668A>G, NM_005214.4:c.668A>G, NM_001037631.3:c.*33A>G, NM_001037631.2:c.*33A>G, NP_005205.2:p.Asn223Ser

Select item 14402867668.

rs1440286766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:203872721 (GRCh38)
2:204737444 (GRCh37)
Canonical SPDI:: NC_000002.12:203872720:G:A
Gene:: CTLA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.203872721G>A, NC_000002.11:g.204737444G>A, NG_011502.1:g.9936G>A, NM_005214.5:c.581G>A, NM_005214.4:c.581G>A, NM_001037631.3:c.471G>A, NM_001037631.2:c.471G>A, NP_005205.2:p.Ser194Asn

Select item 14400971029.

rs1440097102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:203872724 (GRCh38)
2:204737447 (GRCh37)
Canonical SPDI:: NC_000002.12:203872723:C:G,NC_000002.12:203872723:C:T
Gene:: CTLA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.203872724C>G, NC_000002.12:g.203872724C>T, NC_000002.11:g.204737447C>G, NC_000002.11:g.204737447C>T, NG_011502.1:g.9939C>G, NG_011502.1:g.9939C>T, NM_005214.5:c.584C>G, NM_005214.5:c.584C>T, NM_005214.4:c.584C>G, NM_005214.4:c.584C>T, NM_001037631.3:c.474C>G, NM_001037631.3:c.474C>T, NM_001037631.2:c.474C>G, NM_001037631.2:c.474C>T, NP_005205.2:p.Pro195Arg, NP_005205.2:p.Pro195Leu

Select item 143137530910.

rs1431375309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:203870717 (GRCh38)
2:204735440 (GRCh37)
Canonical SPDI:: NC_000002.12:203870716:G:A,NC_000002.12:203870716:G:C
Gene:: CTLA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.203870717G>A, NC_000002.12:g.203870717G>C, NC_000002.11:g.204735440G>A, NC_000002.11:g.204735440G>C, NG_011502.1:g.7932G>A, NG_011502.1:g.7932G>C, NM_005214.5:c.241G>A, NM_005214.5:c.241G>C, NM_005214.4:c.241G>A, NM_005214.4:c.241G>C, NM_001037631.3:c.241G>A, NM_001037631.3:c.241G>C, NM_001037631.2:c.241G>A, NM_001037631.2:c.241G>C, NP_005205.2:p.Val81Met, NP_005205.2:p.Val81Leu, NP_001032720.1:p.Val81Met, NP_001032720.1:p.Val81Leu

Select item 142292655911.

rs1422926559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:203870726 (GRCh38)
2:204735449 (GRCh37)
Canonical SPDI:: NC_000002.12:203870725:G:A
Gene:: CTLA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.203870726G>A, NC_000002.11:g.204735449G>A, NG_011502.1:g.7941G>A, NM_005214.5:c.250G>A, NM_005214.4:c.250G>A, NM_001037631.3:c.250G>A, NM_001037631.2:c.250G>A, NP_005205.2:p.Val84Ile, NP_001032720.1:p.Val84Ile

Select item 142291929812.

rs1422919298 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:203870841 (GRCh38)
2:204735564 (GRCh37)
Canonical SPDI:: NC_000002.12:203870840:T:C
Gene:: CTLA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.203870841T>C, NC_000002.11:g.204735564T>C, NG_011502.1:g.8056T>C, NM_005214.5:c.365T>C, NM_005214.4:c.365T>C, NM_001037631.3:c.365T>C, NM_001037631.2:c.365T>C, NP_005205.2:p.Met122Thr, NP_001032720.1:p.Met122Thr

Select item 141357146713.

rs1413571467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:203868037 (GRCh38)
2:204732760 (GRCh37)
Canonical SPDI:: NC_000002.12:203868036:C:T
Gene:: CTLA4 (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_000002.12:g.203868037C>T, NC_000002.11:g.204732760C>T, NG_011502.1:g.5252C>T, NM_005214.5:c.95C>T, NM_005214.4:c.95C>T, NM_001037631.3:c.95C>T, NM_001037631.2:c.95C>T, NP_005205.2:p.Pro32Leu, NP_001032720.1:p.Pro32Leu

Select item 140559622514.

rs1405596225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:203870686 (GRCh38)
2:204735409 (GRCh37)
Canonical SPDI:: NC_000002.12:203870685:G:A
Gene:: CTLA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.203870686G>A, NC_000002.11:g.204735409G>A, NG_011502.1:g.7901G>A, NM_005214.5:c.210G>A, NM_005214.4:c.210G>A, NM_001037631.3:c.210G>A, NM_001037631.2:c.210G>A

Select item 140333633615.

rs1403336336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:203870741 (GRCh38)
2:204735464 (GRCh37)
Canonical SPDI:: NC_000002.12:203870740:T:C
Gene:: CTLA4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.203870741T>C, NC_000002.11:g.204735464T>C, NG_011502.1:g.7956T>C, NM_005214.5:c.265T>C, NM_005214.4:c.265T>C, NM_001037631.3:c.265T>C, NM_001037631.2:c.265T>C, NP_005205.2:p.Tyr89His, NP_001032720.1:p.Tyr89His

Select item 139625490416.

rs1396254904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:203871413 (GRCh38)
2:204736136 (GRCh37)
Canonical SPDI:: NC_000002.12:203871412:T:C
Gene:: CTLA4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.203871413T>C, NC_000002.11:g.204736136T>C, NG_011502.1:g.8628T>C, NM_005214.5:c.493T>C, NM_005214.4:c.493T>C, NP_005205.2:p.Trp165Arg

Select item 139130095017.

rs1391300950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:203867981 (GRCh38)
2:204732704 (GRCh37)
Canonical SPDI:: NC_000002.12:203867980:G:A,NC_000002.12:203867980:G:C
Gene:: CTLA4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.203867981G>A, NC_000002.12:g.203867981G>C, NC_000002.11:g.204732704G>A, NC_000002.11:g.204732704G>C, NG_011502.1:g.5196G>A, NG_011502.1:g.5196G>C, NM_005214.5:c.39G>A, NM_005214.5:c.39G>C, NM_005214.4:c.39G>A, NM_005214.4:c.39G>C, NM_001037631.3:c.39G>A, NM_001037631.3:c.39G>C, NM_001037631.2:c.39G>A, NM_001037631.2:c.39G>C

Select item 138170115718.

rs1381701157 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:203870857 (GRCh38)
2:204735580 (GRCh37)
Canonical SPDI:: NC_000002.12:203870856:C:T
Gene:: CTLA4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.203870857C>T, NC_000002.11:g.204735580C>T, NG_011502.1:g.8072C>T, NM_005214.5:c.381C>T, NM_005214.4:c.381C>T, NM_001037631.3:c.381C>T, NM_001037631.2:c.381C>T

Select item 137886695819.

rs1378866958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:203870705 (GRCh38)
2:204735428 (GRCh37)
Canonical SPDI:: NC_000002.12:203870704:G:A
Gene:: CTLA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.203870705G>A, NC_000002.11:g.204735428G>A, NG_011502.1:g.7920G>A, NM_005214.5:c.229G>A, NM_005214.4:c.229G>A, NM_001037631.3:c.229G>A, NM_001037631.2:c.229G>A, NP_005205.2:p.Ala77Thr, NP_001032720.1:p.Ala77Thr

Select item 137561911020.

rs1375619110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:203871379 (GRCh38)
2:204736102 (GRCh37)
Canonical SPDI:: NC_000002.12:203871378:T:C
Gene:: CTLA4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.203871379T>C, NC_000002.11:g.204736102T>C, NG_011502.1:g.8594T>C, NM_005214.5:c.459T>C, NM_005214.4:c.459T>C

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