SNP Links for Protein (Select 4503489) - SNP

Links from Protein

Items: 1 to 20 of 352

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Select item 14904803511.

rs1490480351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:7705688 (GRCh38)
17:7609006 (GRCh37)
Canonical SPDI:: NC_000017.11:7705687:G:T
Gene:: EFNB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.7705688G>T, NC_000017.10:g.7609006G>T, NM_001406.4:c.90G>T, NM_001406.3:c.90G>T

Select item 14861890882.

rs1486189088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7708160 (GRCh38)
17:7611478 (GRCh37)
Canonical SPDI:: NC_000017.11:7708159:C:T
Gene:: EFNB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.7708160C>T, NC_000017.10:g.7611478C>T, NM_001406.4:c.325C>T, NM_001406.3:c.325C>T

Select item 14834323923.

rs1483432392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:7709206 (GRCh38)
17:7612524 (GRCh37)
Canonical SPDI:: NC_000017.11:7709205:G:A,NC_000017.11:7709205:G:C
Gene:: EFNB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7709206G>A, NC_000017.11:g.7709206G>C, NC_000017.10:g.7612524G>A, NC_000017.10:g.7612524G>C, NM_001406.4:c.653G>A, NM_001406.4:c.653G>C, NM_001406.3:c.653G>A, NM_001406.3:c.653G>C, NP_001397.1:p.Gly218Asp, NP_001397.1:p.Gly218Ala

Select item 14786803244.

rs1478680324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7705708 (GRCh38)
17:7609026 (GRCh37)
Canonical SPDI:: NC_000017.11:7705707:C:T
Gene:: EFNB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.7705708C>T, NC_000017.10:g.7609026C>T, NM_001406.4:c.110C>T, NM_001406.3:c.110C>T, NP_001397.1:p.Ser37Leu

Select item 14720438595.

rs1472043859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:7709537 (GRCh38)
17:7612855 (GRCh37)
Canonical SPDI:: NC_000017.11:7709536:G:A,NC_000017.11:7709536:G:T
Gene:: EFNB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7709537G>A, NC_000017.11:g.7709537G>T, NC_000017.10:g.7612855G>A, NC_000017.10:g.7612855G>T, NM_001406.4:c.984G>A, NM_001406.4:c.984G>T, NM_001406.3:c.984G>A, NM_001406.3:c.984G>T

Select item 14696341966.

rs1469634196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7709495 (GRCh38)
17:7612813 (GRCh37)
Canonical SPDI:: NC_000017.11:7709494:G:A
Gene:: EFNB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7709495G>A, NC_000017.10:g.7612813G>A, NM_001406.4:c.942G>A, NM_001406.3:c.942G>A

Select item 14686091987.

rs1468609198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7709211 (GRCh38)
17:7612529 (GRCh37)
Canonical SPDI:: NC_000017.11:7709210:C:T
Gene:: EFNB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7709211C>T, NC_000017.10:g.7612529C>T, NM_001406.4:c.658C>T, NM_001406.3:c.658C>T

Select item 14670384938.

rs1467038493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7705637 (GRCh38)
17:7608955 (GRCh37)
Canonical SPDI:: NC_000017.11:7705636:C:T
Gene:: EFNB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7705637C>T, NC_000017.10:g.7608955C>T, NM_001406.4:c.39C>T, NM_001406.3:c.39C>T

Select item 14648508089.

rs1464850808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7708024 (GRCh38)
17:7611342 (GRCh37)
Canonical SPDI:: NC_000017.11:7708023:C:T
Gene:: EFNB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7708024C>T, NC_000017.10:g.7611342C>T, NM_001406.4:c.189C>T, NM_001406.3:c.189C>T

Select item 145705068210.

rs1457050682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7708005 (GRCh38)
17:7611323 (GRCh37)
Canonical SPDI:: NC_000017.11:7708004:G:A
Gene:: EFNB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.7708005G>A, NC_000017.10:g.7611323G>A, NM_001406.4:c.170G>A, NM_001406.3:c.170G>A, NP_001397.1:p.Arg57Gln

Select item 145700763211.

rs1457007632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7708076 (GRCh38)
17:7611394 (GRCh37)
Canonical SPDI:: NC_000017.11:7708075:C:T
Gene:: EFNB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7708076C>T, NC_000017.10:g.7611394C>T, NM_001406.4:c.241C>T, NM_001406.3:c.241C>T

Select item 144678122412.

rs1446781224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:7709369 (GRCh38)
17:7612687 (GRCh37)
Canonical SPDI:: NC_000017.11:7709368:A:G,NC_000017.11:7709368:A:T
Gene:: EFNB3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.027061/321 (ALFA)
G=0.000005/1 (GnomAD_exomes)
T=0.001664/28 (TOMMO)
G=0.03168/92 (KOREAN)
HGVS:: NC_000017.11:g.7709369A>G, NC_000017.11:g.7709369A>T, NC_000017.10:g.7612687A>G, NC_000017.10:g.7612687A>T, NM_001406.4:c.816A>G, NM_001406.4:c.816A>T, NM_001406.3:c.816A>G, NM_001406.3:c.816A>T

Select item 144222715213.

rs1442227152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7708701 (GRCh38)
17:7612019 (GRCh37)
Canonical SPDI:: NC_000017.11:7708700:C:T
Gene:: EFNB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7708701C>T, NC_000017.10:g.7612019C>T, NM_001406.4:c.575C>T, NM_001406.3:c.575C>T, NP_001397.1:p.Ala192Val

Select item 143835041914.

rs1438350419 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAC>- [Show Flanks]
Chromosome:: 17:7709565 (GRCh38)
17:7612883 (GRCh37)
Canonical SPDI:: NC_000017.11:7709560:CTACTAC:CTAC
Gene:: EFNB3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CTAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7709562TAC[1], NC_000017.10:g.7612880TAC[1], NM_001406.4:c.1009TAC[1], NM_001406.3:c.1009TAC[1], NP_001397.1:p.Tyr338del

Select item 143620593215.

rs1436205932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7709518 (GRCh38)
17:7612836 (GRCh37)
Canonical SPDI:: NC_000017.11:7709517:T:C
Gene:: EFNB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7709518T>C, NC_000017.10:g.7612836T>C, NM_001406.4:c.965T>C, NM_001406.3:c.965T>C, NP_001397.1:p.Val322Ala

Select item 143529567616.

rs1435295676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7708480 (GRCh38)
17:7611798 (GRCh37)
Canonical SPDI:: NC_000017.11:7708479:G:A
Gene:: EFNB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.7708480G>A, NC_000017.10:g.7611798G>A, NM_001406.4:c.461G>A, NM_001406.3:c.461G>A, NP_001397.1:p.Gly154Asp

Select item 143088391517.

rs1430883915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:7709529 (GRCh38)
17:7612847 (GRCh37)
Canonical SPDI:: NC_000017.11:7709528:C:A
Gene:: EFNB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.7709529C>A, NC_000017.10:g.7612847C>A, NM_001406.4:c.976C>A, NM_001406.3:c.976C>A, NP_001397.1:p.Gln326Lys

Select item 143017119818.

rs1430171198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:7709254 (GRCh38)
17:7612572 (GRCh37)
Canonical SPDI:: NC_000017.11:7709253:G:A,NC_000017.11:7709253:G:T
Gene:: EFNB3 (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)
HGVS:: NC_000017.11:g.7709254G>A, NC_000017.11:g.7709254G>T, NC_000017.10:g.7612572G>A, NC_000017.10:g.7612572G>T, NM_001406.4:c.701G>A, NM_001406.4:c.701G>T, NM_001406.3:c.701G>A, NM_001406.3:c.701G>T, NP_001397.1:p.Gly234Glu, NP_001397.1:p.Gly234Val

Select item 143013942719.

rs1430139427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7708689 (GRCh38)
17:7612007 (GRCh37)
Canonical SPDI:: NC_000017.11:7708688:G:A
Gene:: EFNB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.7708689G>A, NC_000017.10:g.7612007G>A, NM_001406.4:c.563G>A, NM_001406.3:c.563G>A, NP_001397.1:p.Arg188Lys

Select item 142900441920.

rs1429004419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:7709210 (GRCh38)
17:7612528 (GRCh37)
Canonical SPDI:: NC_000017.11:7709209:C:G,NC_000017.11:7709209:C:T
Gene:: EFNB3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7709210C>G, NC_000017.11:g.7709210C>T, NC_000017.10:g.7612528C>G, NC_000017.10:g.7612528C>T, NM_001406.4:c.657C>G, NM_001406.4:c.657C>T, NM_001406.3:c.657C>G, NM_001406.3:c.657C>T

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Items: 1 to 20 of 352

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