SNP Links for Protein (Select 4507467) - SNP

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Links from Protein

Items: 1 to 20 of 725

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Select item 14883875891.

rs1488387589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:136053966 (GRCh38)
5:135389655 (GRCh37)
Canonical SPDI:: NC_000005.10:136053965:G:T
Gene:: TGFBI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.136053966G>T, NC_000005.9:g.135389655G>T, NG_012646.1:g.30072G>T, NM_000358.3:c.1150G>T, NM_000358.2:c.1150G>T, NG_083833.1:g.835G>T, NP_000349.1:p.Ala384Ser

Select item 14879549672.

rs1487954967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:136046868 (GRCh38)
5:135382557 (GRCh37)
Canonical SPDI:: NC_000005.10:136046867:G:A
Gene:: TGFBI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.136046868G>A, NC_000005.9:g.135382557G>A, NG_012646.1:g.22974G>A, NM_000358.3:c.477G>A, NM_000358.2:c.477G>A

Select item 14861307183.

rs1486130718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:136059199 (GRCh38)
5:135394888 (GRCh37)
Canonical SPDI:: NC_000005.10:136059198:G:A
Gene:: TGFBI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.136059199G>A, NC_000005.9:g.135394888G>A, NG_012646.1:g.35305G>A, NM_000358.3:c.1788G>A, NM_000358.2:c.1788G>A

Select item 14851243514.

rs1485124351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:136055750 (GRCh38)
5:135391439 (GRCh37)
Canonical SPDI:: NC_000005.10:136055749:T:C
Gene:: TGFBI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.136055750T>C, NC_000005.9:g.135391439T>C, NG_012646.1:g.31856T>C, NM_000358.3:c.1481T>C, NM_000358.2:c.1481T>C, NP_000349.1:p.Met494Thr

Select item 14848214545.

rs1484821454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:136033851 (GRCh38)
5:135369540 (GRCh37)
Canonical SPDI:: NC_000005.10:136033850:G:A
Gene:: TGFBI (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=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.136033851G>A, NC_000005.9:g.135369540G>A, NG_012646.1:g.9957G>A, NM_000358.3:c.223G>A, NM_000358.2:c.223G>A, NP_000349.1:p.Gly75Ser

Select item 14837615746.

rs1483761574 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 5:136033785 (GRCh38)
5:135369474 (GRCh37)
Canonical SPDI:: NC_000005.10:136033782:AGAAG:AG
Gene:: TGFBI (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.136033785_136033787del, NC_000005.9:g.135369474_135369476del, NG_012646.1:g.9891_9893del, NM_000358.3:c.157_159del, NM_000358.2:c.157_159del, NP_000349.1:p.Lys53del

Select item 14804914527.

rs1480491452 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:136029136 (GRCh38)
5:135364825 (GRCh37)
Canonical SPDI:: NC_000005.10:136029135:G:A,NC_000005.10:136029135:G:C
Gene:: TGFBI (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.136029136G>A, NC_000005.10:g.136029136G>C, NC_000005.9:g.135364825G>A, NC_000005.9:g.135364825G>C, NG_012646.1:g.5242G>A, NG_012646.1:g.5242G>C, NM_000358.3:c.81G>A, NM_000358.3:c.81G>C, NM_000358.2:c.81G>A, NM_000358.2:c.81G>C, NP_000349.1:p.Lys27Asn

Select item 14771825178.

rs1477182517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:136049507 (GRCh38)
5:135385196 (GRCh37)
Canonical SPDI:: NC_000005.10:136049506:G:A
Gene:: TGFBI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.136049507G>A, NC_000005.9:g.135385196G>A, NG_012646.1:g.25613G>A, NM_000358.3:c.840G>A, NM_000358.2:c.840G>A

Select item 14757790009.

rs1475779000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:136059154 (GRCh38)
5:135394843 (GRCh37)
Canonical SPDI:: NC_000005.10:136059153:A:G
Gene:: TGFBI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.136059154A>G, NC_000005.9:g.135394843A>G, NG_012646.1:g.35260A>G, NM_000358.3:c.1743A>G, NM_000358.2:c.1743A>G

Select item 147537138710.

rs1475371387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:136029077 (GRCh38)
5:135364766 (GRCh37)
Canonical SPDI:: NC_000005.10:136029076:C:T
Gene:: TGFBI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.136029077C>T, NC_000005.9:g.135364766C>T, NG_012646.1:g.5183C>T, NM_000358.3:c.22C>T, NM_000358.2:c.22C>T

Select item 147276104511.

rs1472761045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:136046349 (GRCh38)
5:135382038 (GRCh37)
Canonical SPDI:: NC_000005.10:136046348:A:G,NC_000005.10:136046348:A:T
Gene:: TGFBI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.136046349A>G, NC_000005.10:g.136046349A>T, NC_000005.9:g.135382038A>G, NC_000005.9:g.135382038A>T, NG_012646.1:g.22455A>G, NG_012646.1:g.22455A>T, NM_000358.3:c.313A>G, NM_000358.3:c.313A>T, NM_000358.2:c.313A>G, NM_000358.2:c.313A>T, NP_000349.1:p.Asn105Asp, NP_000349.1:p.Asn105Tyr

Select item 147207048612.

rs1472070486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:136062687 (GRCh38)
5:135398376 (GRCh37)
Canonical SPDI:: NC_000005.10:136062686:G:A,NC_000005.10:136062686:G:T
Gene:: TGFBI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.136062687G>A, NC_000005.10:g.136062687G>T, NC_000005.9:g.135398376G>A, NC_000005.9:g.135398376G>T, NG_012646.1:g.38793G>A, NG_012646.1:g.38793G>T, NM_000358.3:c.2011G>A, NM_000358.3:c.2011G>T, NM_000358.2:c.2011G>A, NM_000358.2:c.2011G>T, NP_000349.1:p.Ala671Thr, NP_000349.1:p.Ala671Ser

Select item 147079505913.

rs1470795059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:136029180 (GRCh38)
5:135364869 (GRCh37)
Canonical SPDI:: NC_000005.10:136029179:G:T
Gene:: TGFBI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.136029180G>T, NC_000005.9:g.135364869G>T, NG_012646.1:g.5286G>T, NM_000358.3:c.125G>T, NM_000358.2:c.125G>T, NP_000349.1:p.Arg42Leu

Select item 147073915414.

rs1470739154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:136053952 (GRCh38)
5:135389641 (GRCh37)
Canonical SPDI:: NC_000005.10:136053951:T:C
Gene:: TGFBI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.136053952T>C, NC_000005.9:g.135389641T>C, NG_012646.1:g.30058T>C, NM_000358.3:c.1136T>C, NM_000358.2:c.1136T>C, NG_083833.1:g.821T>C, NP_000349.1:p.Leu379Pro

Select item 147007516515.

rs1470075165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:136059108 (GRCh38)
5:135394797 (GRCh37)
Canonical SPDI:: NC_000005.10:136059107:C:A
Gene:: TGFBI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.136059108C>A, NC_000005.9:g.135394797C>A, NG_012646.1:g.35214C>A, NM_000358.3:c.1697C>A, NM_000358.2:c.1697C>A, NP_000349.1:p.Ala566Asp

Select item 146539473616.

rs1465394736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:136029097 (GRCh38)
5:135364786 (GRCh37)
Canonical SPDI:: NC_000005.10:136029096:G:A,NC_000005.10:136029096:G:C
Gene:: TGFBI (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000005.10:g.136029097G>A, NC_000005.10:g.136029097G>C, NC_000005.9:g.135364786G>A, NC_000005.9:g.135364786G>C, NG_012646.1:g.5203G>A, NG_012646.1:g.5203G>C, NM_000358.3:c.42G>A, NM_000358.3:c.42G>C, NM_000358.2:c.42G>A, NM_000358.2:c.42G>C

Select item 146478506717.

rs1464785067 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:136049470 (GRCh38)
5:135385159 (GRCh37)
Canonical SPDI:: NC_000005.10:136049469:T:A,NC_000005.10:136049469:T:C
Gene:: TGFBI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.136049470T>A, NC_000005.10:g.136049470T>C, NC_000005.9:g.135385159T>A, NC_000005.9:g.135385159T>C, NG_012646.1:g.25576T>A, NG_012646.1:g.25576T>C, NM_000358.3:c.803T>A, NM_000358.3:c.803T>C, NM_000358.2:c.803T>A, NM_000358.2:c.803T>C, NP_000349.1:p.Met268Lys, NP_000349.1:p.Met268Thr

Select item 146413077718.

rs1464130777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:136054859 (GRCh38)
5:135390548 (GRCh37)
Canonical SPDI:: NC_000005.10:136054858:A:G
Gene:: TGFBI (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=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.136054859A>G, NC_000005.9:g.135390548A>G, NG_012646.1:g.30965A>G, NM_000358.3:c.1408A>G, NM_000358.2:c.1408A>G, NP_000349.1:p.Asn470Asp

Select item 146379336819.

rs1463793368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:136060889 (GRCh38)
5:135396578 (GRCh37)
Canonical SPDI:: NC_000005.10:136060888:C:T
Gene:: TGFBI (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_000005.10:g.136060889C>T, NC_000005.9:g.135396578C>T, NG_012646.1:g.36995C>T, NM_000358.3:c.1859C>T, NM_000358.2:c.1859C>T, NP_000349.1:p.Ala620Val

Select item 146355598020.

rs1463555980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:136047013 (GRCh38)
5:135382702 (GRCh37)
Canonical SPDI:: NC_000005.10:136047012:G:C
Gene:: TGFBI (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.136047013G>C, NC_000005.9:g.135382702G>C, NG_012646.1:g.23119G>C, NM_000358.3:c.622G>C, NM_000358.2:c.622G>C, NP_000349.1:p.Gly208Arg

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