SNP Links for Protein (Select 56605998) - SNP

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Links from Protein

Items: 1 to 20 of 373

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Select item 14855497401.

rs1485549740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:104303957 (GRCh38)
12:104697735 (GRCh37)
Canonical SPDI:: NC_000012.12:104303956:G:A
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.104303957G>A, NC_000012.11:g.104697735G>A, NG_029392.1:g.93177G>A, NM_001008394.3:c.23G>A, NM_001008394.2:c.23G>A, NP_001008395.1:p.Arg8Lys

Select item 14831783912.

rs1483178391 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:104304651 (GRCh38)
12:104698429 (GRCh37)
Canonical SPDI:: NC_000012.12:104304650:T:C
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.104304651T>C, NC_000012.11:g.104698429T>C, NG_029392.1:g.93871T>C, NM_001008394.3:c.717T>C, NM_001008394.2:c.717T>C

Select item 14825497573.

rs1482549757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:104304119 (GRCh38)
12:104697897 (GRCh37)
Canonical SPDI:: NC_000012.12:104304118:C:T
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000012.12:g.104304119C>T, NC_000012.11:g.104697897C>T, NG_029392.1:g.93339C>T, NM_001008394.3:c.185C>T, NM_001008394.2:c.185C>T, NP_001008395.1:p.Ala62Val

Select item 14809428644.

rs1480942864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:104304797 (GRCh38)
12:104698575 (GRCh37)
Canonical SPDI:: NC_000012.12:104304796:T:C
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.104304797T>C, NC_000012.11:g.104698575T>C, NG_029392.1:g.94017T>C, NM_001008394.3:c.863T>C, NM_001008394.2:c.863T>C, NP_001008395.1:p.Val288Ala

Select item 14758839805.

rs1475883980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:104304381 (GRCh38)
12:104698159 (GRCh37)
Canonical SPDI:: NC_000012.12:104304380:C:A,NC_000012.12:104304380:C:T
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_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_000012.12:g.104304381C>A, NC_000012.12:g.104304381C>T, NC_000012.11:g.104698159C>A, NC_000012.11:g.104698159C>T, NG_029392.1:g.93601C>A, NG_029392.1:g.93601C>T, NM_001008394.3:c.447C>A, NM_001008394.3:c.447C>T, NM_001008394.2:c.447C>A, NM_001008394.2:c.447C>T

Select item 14728451956.

rs1472845195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 12:104304023 (GRCh38)
12:104697801 (GRCh37)
Canonical SPDI:: NC_000012.12:104304022:T:A,NC_000012.12:104304022:T:G
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.104304023T>A, NC_000012.12:g.104304023T>G, NC_000012.11:g.104697801T>A, NC_000012.11:g.104697801T>G, NG_029392.1:g.93243T>A, NG_029392.1:g.93243T>G, NM_001008394.3:c.89T>A, NM_001008394.3:c.89T>G, NM_001008394.2:c.89T>A, NM_001008394.2:c.89T>G, NP_001008395.1:p.Leu30His, NP_001008395.1:p.Leu30Arg

Select item 14704920127.

rs1470492012 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTCATACT>- [Show Flanks]
Chromosome:: 12:104304926 (GRCh38)
12:104698704 (GRCh37)
Canonical SPDI:: NC_000012.12:104304919:CATACTCCTCATACT:CATACT
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: intron_variant,inframe_deletion,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATACT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.104304926_104304934del, NC_000012.11:g.104698704_104698712del, NG_029392.1:g.94146_94154del, NM_001008394.3:c.992_1000del, NM_001008394.2:c.992_1000del, NP_001008395.1:p.Ser331_Tyr333del

Select item 14659285098.

rs1465928509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:104304748 (GRCh38)
12:104698526 (GRCh37)
Canonical SPDI:: NC_000012.12:104304747:A:G
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.104304748A>G, NC_000012.11:g.104698526A>G, NG_029392.1:g.93968A>G, NM_001008394.3:c.814A>G, NM_001008394.2:c.814A>G, NP_001008395.1:p.Arg272Gly

Select item 14621871249.

rs1462187124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:104304744 (GRCh38)
12:104698522 (GRCh37)
Canonical SPDI:: NC_000012.12:104304743:T:G
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.104304744T>G, NC_000012.11:g.104698522T>G, NG_029392.1:g.93964T>G, NM_001008394.3:c.810T>G, NM_001008394.2:c.810T>G, NP_001008395.1:p.Phe270Leu

Select item 145660665110.

rs1456606651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:104304869 (GRCh38)
12:104698647 (GRCh37)
Canonical SPDI:: NC_000012.12:104304868:A:G
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.104304869A>G, NC_000012.11:g.104698647A>G, NG_029392.1:g.94089A>G, NM_001008394.3:c.935A>G, NM_001008394.2:c.935A>G, NP_001008395.1:p.Gln312Arg

Select item 145613988011.

rs1456139880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:104304478 (GRCh38)
12:104698256 (GRCh37)
Canonical SPDI:: NC_000012.12:104304477:C:T
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.104304478C>T, NC_000012.11:g.104698256C>T, NG_029392.1:g.93698C>T, NM_001008394.3:c.544C>T, NM_001008394.2:c.544C>T, NP_001008395.1:p.Pro182Ser

Select item 145555507312.

rs1455555073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:104304312 (GRCh38)
12:104698090 (GRCh37)
Canonical SPDI:: NC_000012.12:104304311:C:T
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.104304312C>T, NC_000012.11:g.104698090C>T, NG_029392.1:g.93532C>T, NM_001008394.3:c.378C>T, NM_001008394.2:c.378C>T

Select item 145421810013.

rs1454218100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:104304293 (GRCh38)
12:104698071 (GRCh37)
Canonical SPDI:: NC_000012.12:104304292:G:C,NC_000012.12:104304292:G:T
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.104304293G>C, NC_000012.12:g.104304293G>T, NC_000012.11:g.104698071G>C, NC_000012.11:g.104698071G>T, NG_029392.1:g.93513G>C, NG_029392.1:g.93513G>T, NM_001008394.3:c.359G>C, NM_001008394.3:c.359G>T, NM_001008394.2:c.359G>C, NM_001008394.2:c.359G>T, NP_001008395.1:p.Cys120Ser, NP_001008395.1:p.Cys120Phe

Select item 145141065814.

rs1451410658 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 12:104304690 (GRCh38)
12:104698468 (GRCh37)
Canonical SPDI:: NC_000012.12:104304686:TTTTT:TTT,NC_000012.12:104304686:TTTTT:TTTT
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.104304690_104304691del, NC_000012.12:g.104304691del, NC_000012.11:g.104698468_104698469del, NC_000012.11:g.104698469del, NG_029392.1:g.93910_93911del, NG_029392.1:g.93911del, NM_001008394.3:c.756_757del, NM_001008394.3:c.757del, NM_001008394.2:c.756_757del, NM_001008394.2:c.757del, NP_001008395.1:p.Arg254fs, NP_001008395.1:p.Ser253fs

Select item 145078802715.

rs1450788027 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:104304003 (GRCh38)
12:104697781 (GRCh37)
Canonical SPDI:: NC_000012.12:104304002:A:G
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.104304003A>G, NC_000012.11:g.104697781A>G, NG_029392.1:g.93223A>G, NM_001008394.3:c.69A>G, NM_001008394.2:c.69A>G

Select item 144933339316.

rs1449333393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:104304050 (GRCh38)
12:104697828 (GRCh37)
Canonical SPDI:: NC_000012.12:104304049:G:C
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.104304050G>C, NC_000012.11:g.104697828G>C, NG_029392.1:g.93270G>C, NM_001008394.3:c.116G>C, NM_001008394.2:c.116G>C, NP_001008395.1:p.Ser39Thr

Select item 144893265317.

rs1448932653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:104304373 (GRCh38)
12:104698151 (GRCh37)
Canonical SPDI:: NC_000012.12:104304372:G:A
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000012.12:g.104304373G>A, NC_000012.11:g.104698151G>A, NG_029392.1:g.93593G>A, NM_001008394.3:c.439G>A, NM_001008394.2:c.439G>A, NP_001008395.1:p.Ala147Thr

Select item 144244928618.

rs1442449286 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAC>- [Show Flanks]
Chromosome:: 12:104303977 (GRCh38)
12:104697755 (GRCh37)
Canonical SPDI:: NC_000012.12:104303972:CGACGAC:CGAC
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CGAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.104303974GAC[1], NC_000012.11:g.104697752GAC[1], NG_029392.1:g.93194GAC[1], NM_001008394.3:c.40GAC[1], NM_001008394.2:c.40GAC[1], NP_001008395.1:p.Asp15del

Select item 144229734419.

rs1442297344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:104304194 (GRCh38)
12:104697972 (GRCh37)
Canonical SPDI:: NC_000012.12:104304193:C:T
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.104304194C>T, NC_000012.11:g.104697972C>T, NG_029392.1:g.93414C>T, NM_001008394.3:c.260C>T, NM_001008394.2:c.260C>T, NP_001008395.1:p.Ala87Val

Select item 143785421420.

rs1437854214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:104304658 (GRCh38)
12:104698436 (GRCh37)
Canonical SPDI:: NC_000012.12:104304657:T:C
Gene:: TXNRD1 (Varview), EID3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.104304658T>C, NC_000012.11:g.104698436T>C, NG_029392.1:g.93878T>C, NM_001008394.3:c.724T>C, NM_001008394.2:c.724T>C, NP_001008395.1:p.Tyr242His