SNP Links for Protein (Select 542029077) - SNP

Links from Protein

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Select item 14886940931.

rs1488694093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:19918971 (GRCh38)
22:19906494 (GRCh37)
Canonical SPDI:: NC_000022.11:19918970:T:C,NC_000022.11:19918970:T:G
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19918971T>C, NC_000022.11:g.19918971T>G, NC_000022.10:g.19906494T>C, NC_000022.10:g.19906494T>G, NG_011835.1:g.27866A>G, NG_011835.1:g.27866A>C, NM_006440.5:c.263A>G, NM_006440.5:c.263A>C, NM_006440.4:c.263A>G, NM_006440.4:c.263A>C, NM_006440.3:c.263A>G, NM_006440.3:c.263A>C, NM_001282512.3:c.263A>G, NM_001282512.3:c.263A>C, NM_001282512.2:c.263A>G, NM_001282512.2:c.263A>C, NM_001282512.1:c.263A>G, NM_001282512.1:c.263A>C, NM_001352300.2:c.260A>G, NM_001352300.2:c.260A>C, NM_001352300.1:c.260A>G, NM_001352300.1:c.260A>C, NM_001352303.2:c.167A>G, NM_001352303.2:c.167A>C, NM_001352303.1:c.167A>G, NM_001352303.1:c.167A>C, NM_001352302.2:c.-26A>G, NM_001352302.2:c.-26A>C, NM_001352302.1:c.-26A>G, NM_001352302.1:c.-26A>C, NM_001352301.2:c.173A>G, NM_001352301.2:c.173A>C, NM_001352301.1:c.173A>G, NM_001352301.1:c.173A>C, NR_147957.2:n.221A>G, NR_147957.2:n.221A>C, NR_147957.1:n.395A>G, NR_147957.1:n.395A>C, NM_145748.1:c.173A>G, NM_145748.1:c.173A>C, NM_145747.1:c.-26A>G, NM_145747.1:c.-26A>C, NP_006431.2:p.Asn88Ser, NP_006431.2:p.Asn88Thr, NP_001269441.1:p.Asn88Ser, NP_001269441.1:p.Asn88Thr, NP_001339229.1:p.Asn87Ser, NP_001339229.1:p.Asn87Thr, NP_001339232.1:p.Asn56Ser, NP_001339232.1:p.Asn56Thr, NP_001339230.1:p.Asn58Ser, NP_001339230.1:p.Asn58Thr

Select item 14882943532.

rs1488294353 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 22:19918918 (GRCh38)
22:19906441 (GRCh37)
Canonical SPDI:: NC_000022.11:19918917:GG:G
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19918919del, NC_000022.10:g.19906442del, NG_011835.1:g.27919del, NM_006440.5:c.316del, NM_006440.4:c.316del, NM_006440.3:c.316del, NM_001282512.3:c.316del, NM_001282512.2:c.316del, NM_001282512.1:c.316del, NM_001352300.2:c.313del, NM_001352300.1:c.313del, NM_001352303.2:c.220del, NM_001352303.1:c.220del, NM_001352302.2:c.28del, NM_001352302.1:c.28del, NM_001352301.2:c.226del, NM_001352301.1:c.226del, NR_147957.2:n.274del, NR_147957.1:n.448del, NM_145748.1:c.226del, NM_145747.1:c.28del, NP_006431.2:p.Gly105_Leu106insTer, NP_001269441.1:p.Gly105_Leu106insTer, NP_001339229.1:p.Gly104_Leu105insTer, NP_001339232.1:p.Gly73_Leu74insTer, NP_001339231.1:p.Gly9_Leu10insTer, NP_001339230.1:p.Gly75_Leu76insTer

Select item 14871814943.

rs1487181494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:19919587 (GRCh38)
22:19907110 (GRCh37)
Canonical SPDI:: NC_000022.11:19919586:C:A
Gene:: TXNRD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
HGVS:: NC_000022.11:g.19919587C>A, NC_000022.10:g.19907110C>A, NG_011835.1:g.27250G>T, NM_006440.5:c.185G>T, NM_006440.4:c.185G>T, NM_006440.3:c.185G>T, NM_001282512.3:c.185G>T, NM_001282512.2:c.185G>T, NM_001282512.1:c.185G>T, NM_001352300.2:c.182G>T, NM_001352300.1:c.182G>T, NM_001352303.2:c.89G>T, NM_001352303.1:c.89G>T, NM_001352302.2:c.-104G>T, NM_001352302.1:c.-104G>T, NM_001352301.2:c.95G>T, NM_001352301.1:c.95G>T, NM_145748.1:c.95G>T, NM_145747.1:c.-104G>T, NP_006431.2:p.Gly62Val, NP_001269441.1:p.Gly62Val, NP_001339229.1:p.Gly61Val, NP_001339232.1:p.Gly30Val, NP_001339230.1:p.Gly32Val

Select item 14862474174.

rs1486247417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:19898048 (GRCh38)
22:19885571 (GRCh37)
Canonical SPDI:: NC_000022.11:19898047:G:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.19898048G>T, NC_000022.10:g.19885571G>T, NG_011835.1:g.48789C>A, NM_006440.5:c.765C>A, NM_006440.4:c.765C>A, NM_006440.3:c.765C>A, NM_001282512.3:c.765C>A, NM_001282512.2:c.765C>A, NM_001282512.1:c.765C>A, NM_001352300.2:c.762C>A, NM_001352300.1:c.762C>A, NM_001352303.2:c.669C>A, NM_001352303.1:c.669C>A, NM_001352302.2:c.477C>A, NM_001352302.1:c.477C>A, NM_001352301.2:c.675C>A, NM_001352301.1:c.675C>A, NR_147957.2:n.723C>A, NR_147957.1:n.897C>A, NM_145748.1:c.675C>A, NM_145747.1:c.477C>A

Select item 14832662055.

rs1483266205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19918883 (GRCh38)
22:19906406 (GRCh37)
Canonical SPDI:: NC_000022.11:19918882:C:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.19918883C>T, NC_000022.10:g.19906406C>T, NG_011835.1:g.27954G>A, NM_006440.5:c.351G>A, NM_006440.4:c.351G>A, NM_006440.3:c.351G>A, NM_001282512.3:c.351G>A, NM_001282512.2:c.351G>A, NM_001282512.1:c.351G>A, NM_001352300.2:c.348G>A, NM_001352300.1:c.348G>A, NM_001352303.2:c.255G>A, NM_001352303.1:c.255G>A, NM_001352302.2:c.63G>A, NM_001352302.1:c.63G>A, NM_001352301.2:c.261G>A, NM_001352301.1:c.261G>A, NR_147957.2:n.309G>A, NR_147957.1:n.483G>A, NM_145748.1:c.261G>A, NM_145747.1:c.63G>A

Select item 14793452316.

rs1479345231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:19898044 (GRCh38)
22:19885567 (GRCh37)
Canonical SPDI:: NC_000022.11:19898043:C:G,NC_000022.11:19898043:C:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/2 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.19898044C>G, NC_000022.11:g.19898044C>T, NC_000022.10:g.19885567C>G, NC_000022.10:g.19885567C>T, NG_011835.1:g.48793G>C, NG_011835.1:g.48793G>A, NM_006440.5:c.769G>C, NM_006440.5:c.769G>A, NM_006440.4:c.769G>C, NM_006440.4:c.769G>A, NM_006440.3:c.769G>C, NM_006440.3:c.769G>A, NM_001282512.3:c.769G>C, NM_001282512.3:c.769G>A, NM_001282512.2:c.769G>C, NM_001282512.2:c.769G>A, NM_001282512.1:c.769G>C, NM_001282512.1:c.769G>A, NM_001352300.2:c.766G>C, NM_001352300.2:c.766G>A, NM_001352300.1:c.766G>C, NM_001352300.1:c.766G>A, NM_001352303.2:c.673G>C, NM_001352303.2:c.673G>A, NM_001352303.1:c.673G>C, NM_001352303.1:c.673G>A, NM_001352302.2:c.481G>C, NM_001352302.2:c.481G>A, NM_001352302.1:c.481G>C, NM_001352302.1:c.481G>A, NM_001352301.2:c.679G>C, NM_001352301.2:c.679G>A, NM_001352301.1:c.679G>C, NM_001352301.1:c.679G>A, NR_147957.2:n.727G>C, NR_147957.2:n.727G>A, NR_147957.1:n.901G>C, NR_147957.1:n.901G>A, NM_145748.1:c.679G>C, NM_145748.1:c.679G>A, NM_145747.1:c.481G>C, NM_145747.1:c.481G>A, NP_006431.2:p.Asp257His, NP_006431.2:p.Asp257Asn, NP_001269441.1:p.Asp257His, NP_001269441.1:p.Asp257Asn, NP_001339229.1:p.Asp256His, NP_001339229.1:p.Asp256Asn, NP_001339232.1:p.Asp225His, NP_001339232.1:p.Asp225Asn, NP_001339231.1:p.Asp161His, NP_001339231.1:p.Asp161Asn, NP_001339230.1:p.Asp227His, NP_001339230.1:p.Asp227Asn

Select item 14762147547.

rs1476214754 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19895146 (GRCh38)
22:19882669 (GRCh37)
Canonical SPDI:: NC_000022.11:19895145:T:C
Gene:: TXNRD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.19895146T>C, NC_000022.10:g.19882669T>C, NG_011835.1:g.51691A>G, NM_001282512.3:c.1004A>G, NM_001282512.2:c.1004A>G, NM_001282512.1:c.1004A>G, NM_001352303.2:c.908A>G, NM_001352303.1:c.908A>G, NP_001269441.1:p.Gln335Arg, NP_001339232.1:p.Gln303Arg

Select item 14746840458.

rs1474684045 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCGCCC [Show Flanks]
Chromosome:: 22:19941727 (GRCh38)
22:19929251 (GRCh37)
Canonical SPDI:: NC_000022.11:19941727:CCCCGCCC:CCCCGCCCCCCGCCC
Gene:: COMT (Varview), TXNRD2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCGCCCCCCGCCC=0./0 (ALFA)
CCCCGCC=0.000007/1 (GnomAD)
CCCCGCC=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.19941729_19941735dup, NC_000022.10:g.19929252_19929258dup, NG_011835.1:g.5103_5109dup, NM_006440.5:c.70_76dup, NM_006440.4:c.70_76dup, NM_006440.3:c.70_76dup, NM_001282512.3:c.70_76dup, NM_001282512.2:c.70_76dup, NM_001282512.1:c.70_76dup, NM_001352300.2:c.70_76dup, NM_001352300.1:c.70_76dup, NR_147957.2:n.85_91dup, NR_147957.1:n.259_265dup, NG_011526.1:g.4990_4996dup, NP_006431.2:p.Val26fs, NP_001269441.1:p.Val26fs, NP_001339229.1:p.Val26fs

Select item 14737220679.

rs1473722067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19918994 (GRCh38)
22:19906517 (GRCh37)
Canonical SPDI:: NC_000022.11:19918993:C:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19918994C>T, NC_000022.10:g.19906517C>T, NG_011835.1:g.27843G>A, NM_006440.5:c.240G>A, NM_006440.4:c.240G>A, NM_006440.3:c.240G>A, NM_001282512.3:c.240G>A, NM_001282512.2:c.240G>A, NM_001282512.1:c.240G>A, NM_001352300.2:c.237G>A, NM_001352300.1:c.237G>A, NM_001352303.2:c.144G>A, NM_001352303.1:c.144G>A, NM_001352302.2:c.-49G>A, NM_001352302.1:c.-49G>A, NM_001352301.2:c.150G>A, NM_001352301.1:c.150G>A, NR_147957.2:n.198G>A, NR_147957.1:n.372G>A, NM_145748.1:c.150G>A, NM_145747.1:c.-49G>A, NP_006431.2:p.Trp80Ter, NP_001269441.1:p.Trp80Ter, NP_001339229.1:p.Trp79Ter, NP_001339232.1:p.Trp48Ter, NP_001339230.1:p.Trp50Ter

Select item 147256075510.

rs1472560755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19895574 (GRCh38)
22:19883097 (GRCh37)
Canonical SPDI:: NC_000022.11:19895573:G:A
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.19895574G>A, NC_000022.10:g.19883097G>A, NG_011835.1:g.51263C>T, NM_006440.5:c.782C>T, NM_006440.4:c.782C>T, NM_006440.3:c.782C>T, NM_001282512.3:c.782C>T, NM_001282512.2:c.782C>T, NM_001282512.1:c.782C>T, NM_001352300.2:c.779C>T, NM_001352300.1:c.779C>T, NM_001352303.2:c.686C>T, NM_001352303.1:c.686C>T, NM_001352302.2:c.494C>T, NM_001352302.1:c.494C>T, NM_001352301.2:c.692C>T, NM_001352301.1:c.692C>T, NR_147957.2:n.740C>T, NR_147957.1:n.914C>T, NM_145748.1:c.692C>T, NM_145747.1:c.494C>T, NP_006431.2:p.Ser261Phe, NP_001269441.1:p.Ser261Phe, NP_001339229.1:p.Ser260Phe, NP_001339232.1:p.Ser229Phe, NP_001339231.1:p.Ser165Phe, NP_001339230.1:p.Ser231Phe

Select item 146960480111.

rs1469604801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19915817 (GRCh38)
22:19903340 (GRCh37)
Canonical SPDI:: NC_000022.11:19915816:G:A
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.19915817G>A, NC_000022.10:g.19903340G>A, NG_011835.1:g.31020C>T, NM_006440.5:c.476C>T, NM_006440.4:c.476C>T, NM_006440.3:c.476C>T, NM_001282512.3:c.476C>T, NM_001282512.2:c.476C>T, NM_001282512.1:c.476C>T, NM_001352300.2:c.473C>T, NM_001352300.1:c.473C>T, NM_001352303.2:c.380C>T, NM_001352303.1:c.380C>T, NM_001352302.2:c.188C>T, NM_001352302.1:c.188C>T, NM_001352301.2:c.386C>T, NM_001352301.1:c.386C>T, NR_147957.2:n.434C>T, NR_147957.1:n.608C>T, NM_145748.1:c.386C>T, NM_145747.1:c.188C>T, NP_006431.2:p.Ala159Val, NP_001269441.1:p.Ala159Val, NP_001339229.1:p.Ala158Val, NP_001339232.1:p.Ala127Val, NP_001339231.1:p.Ala63Val, NP_001339230.1:p.Ala129Val

Select item 146859497312.

rs1468594973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19895149 (GRCh38)
22:19882672 (GRCh37)
Canonical SPDI:: NC_000022.11:19895148:T:C
Gene:: TXNRD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.19895149T>C, NC_000022.10:g.19882672T>C, NG_011835.1:g.51688A>G, NM_001282512.3:c.1001A>G, NM_001282512.2:c.1001A>G, NM_001282512.1:c.1001A>G, NM_001352303.2:c.905A>G, NM_001352303.1:c.905A>G, NP_001269441.1:p.Asn334Ser, NP_001339232.1:p.Asn302Ser

Select item 146824319913.

rs1468243199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:19941789 (GRCh38)
22:19929312 (GRCh37)
Canonical SPDI:: NC_000022.11:19941788:C:A,NC_000022.11:19941788:C:T
Gene:: COMT (Varview), TXNRD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Clinical significance:: drug-response
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.19941789C>A, NC_000022.11:g.19941789C>T, NC_000022.10:g.19929312C>A, NC_000022.10:g.19929312C>T, NG_011835.1:g.5048G>T, NG_011835.1:g.5048G>A, NM_006440.5:c.15G>T, NM_006440.5:c.15G>A, NM_006440.4:c.15G>T, NM_006440.4:c.15G>A, NM_006440.3:c.15G>T, NM_006440.3:c.15G>A, NM_001282512.3:c.15G>T, NM_001282512.3:c.15G>A, NM_001282512.2:c.15G>T, NM_001282512.2:c.15G>A, NM_001282512.1:c.15G>T, NM_001282512.1:c.15G>A, NM_001352300.2:c.15G>T, NM_001352300.2:c.15G>A, NM_001352300.1:c.15G>T, NM_001352300.1:c.15G>A, NR_147957.2:n.30G>T, NR_147957.2:n.30G>A, NR_147957.1:n.204G>T, NR_147957.1:n.204G>A, NG_011526.1:g.5050C>A, NG_011526.1:g.5050C>T, NM_000754.4:c.-200C>A, NM_000754.4:c.-200C>T, NM_000754.3:c.-200C>A, NM_000754.3:c.-200C>T, NM_001362828.2:c.-494C>A, NM_001362828.2:c.-494C>T, NM_001362828.1:c.-494C>A, NM_001362828.1:c.-494C>T

Select item 146072619814.

rs1460726198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19941768 (GRCh38)
22:19929291 (GRCh37)
Canonical SPDI:: NC_000022.11:19941767:T:C
Gene:: COMT (Varview), TXNRD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19941768T>C, NC_000022.10:g.19929291T>C, NG_011835.1:g.5069A>G, NM_006440.5:c.36A>G, NM_006440.4:c.36A>G, NM_006440.3:c.36A>G, NM_001282512.3:c.36A>G, NM_001282512.2:c.36A>G, NM_001282512.1:c.36A>G, NM_001352300.2:c.36A>G, NM_001352300.1:c.36A>G, NR_147957.2:n.51A>G, NR_147957.1:n.225A>G, NG_011526.1:g.5029T>C, NM_000754.3:c.-221T>C, NM_001362828.1:c.-515T>C

Select item 145941319115.

rs1459413191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:19915822 (GRCh38)
22:19903345 (GRCh37)
Canonical SPDI:: NC_000022.11:19915821:G:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.19915822G>T, NC_000022.10:g.19903345G>T, NG_011835.1:g.31015C>A, NM_006440.5:c.471C>A, NM_006440.4:c.471C>A, NM_006440.3:c.471C>A, NM_001282512.3:c.471C>A, NM_001282512.2:c.471C>A, NM_001282512.1:c.471C>A, NM_001352300.2:c.468C>A, NM_001352300.1:c.468C>A, NM_001352303.2:c.375C>A, NM_001352303.1:c.375C>A, NM_001352302.2:c.183C>A, NM_001352302.1:c.183C>A, NM_001352301.2:c.381C>A, NM_001352301.1:c.381C>A, NR_147957.2:n.429C>A, NR_147957.1:n.603C>A, NM_145748.1:c.381C>A, NM_145747.1:c.183C>A

Select item 145914906016.

rs1459149060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 22:19895174 (GRCh38)
22:19882697 (GRCh37)
Canonical SPDI:: NC_000022.11:19895173:T:A,NC_000022.11:19895173:T:C
Gene:: TXNRD2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19895174T>A, NC_000022.11:g.19895174T>C, NC_000022.10:g.19882697T>A, NC_000022.10:g.19882697T>C, NG_011835.1:g.51663A>T, NG_011835.1:g.51663A>G, NM_001282512.3:c.976A>T, NM_001282512.3:c.976A>G, NM_001282512.2:c.976A>T, NM_001282512.2:c.976A>G, NM_001282512.1:c.976A>T, NM_001282512.1:c.976A>G, NM_001352303.2:c.880A>T, NM_001352303.2:c.880A>G, NM_001352303.1:c.880A>T, NM_001352303.1:c.880A>G, NP_001269441.1:p.Thr326Ser, NP_001269441.1:p.Thr326Ala, NP_001339232.1:p.Thr294Ser, NP_001339232.1:p.Thr294Ala

Select item 145711712517.

rs1457117125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19918933 (GRCh38)
22:19906456 (GRCh37)
Canonical SPDI:: NC_000022.11:19918932:C:T
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19918933C>T, NC_000022.10:g.19906456C>T, NG_011835.1:g.27904G>A, NM_006440.5:c.301G>A, NM_006440.4:c.301G>A, NM_006440.3:c.301G>A, NM_001282512.3:c.301G>A, NM_001282512.2:c.301G>A, NM_001282512.1:c.301G>A, NM_001352300.2:c.298G>A, NM_001352300.1:c.298G>A, NM_001352303.2:c.205G>A, NM_001352303.1:c.205G>A, NM_001352302.2:c.13G>A, NM_001352302.1:c.13G>A, NM_001352301.2:c.211G>A, NM_001352301.1:c.211G>A, NR_147957.2:n.259G>A, NR_147957.1:n.433G>A, NM_145748.1:c.211G>A, NM_145747.1:c.13G>A, NP_006431.2:p.Ala101Thr, NP_001269441.1:p.Ala101Thr, NP_001339229.1:p.Ala100Thr, NP_001339232.1:p.Ala69Thr, NP_001339231.1:p.Ala5Thr, NP_001339230.1:p.Ala71Thr

Select item 145593563518.

rs1455935635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:19911398 (GRCh38)
22:19898921 (GRCh37)
Canonical SPDI:: NC_000022.11:19911397:A:G
Gene:: TXNRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.19911398A>G, NC_000022.10:g.19898921A>G, NG_011835.1:g.35439T>C, NM_006440.5:c.641T>C, NM_006440.4:c.641T>C, NM_006440.3:c.641T>C, NM_001282512.3:c.641T>C, NM_001282512.2:c.641T>C, NM_001282512.1:c.641T>C, NM_001352300.2:c.638T>C, NM_001352300.1:c.638T>C, NM_001352303.2:c.545T>C, NM_001352303.1:c.545T>C, NM_001352302.2:c.353T>C, NM_001352302.1:c.353T>C, NM_001352301.2:c.551T>C, NM_001352301.1:c.551T>C, NR_147957.2:n.599T>C, NR_147957.1:n.773T>C, NM_145748.1:c.551T>C, NM_145747.1:c.353T>C, NP_006431.2:p.Leu214Pro, NP_001269441.1:p.Leu214Pro, NP_001339229.1:p.Leu213Pro, NP_001339232.1:p.Leu182Pro, NP_001339231.1:p.Leu118Pro, NP_001339230.1:p.Leu184Pro

Select item 145296836319.

rs1452968363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:19931091 (GRCh38)
22:19918614 (GRCh37)
Canonical SPDI:: NC_000022.11:19931090:C:A
Gene:: TXNRD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.19931091C>A, NC_000022.10:g.19918614C>A, NG_011835.1:g.15746G>T, NM_006440.5:c.111G>T, NM_006440.4:c.111G>T, NM_006440.3:c.111G>T, NM_001282512.3:c.111G>T, NM_001282512.2:c.111G>T, NM_001282512.1:c.111G>T, NM_001352300.2:c.108G>T, NM_001352300.1:c.108G>T, NM_001352303.2:c.15G>T, NM_001352303.1:c.15G>T, NM_001352302.2:c.-178G>T, NM_001352302.1:c.-178G>T, NM_001352301.2:c.21G>T, NM_001352301.1:c.21G>T, NR_147957.2:n.126G>T, NR_147957.1:n.300G>T, NM_145748.1:c.21G>T, NM_145747.1:c.-178G>T, NP_006431.2:p.Gln37His, NP_001269441.1:p.Gln37His, NP_001339229.1:p.Gln36His, NP_001339232.1:p.Gln5His, NP_001339230.1:p.Gln7His

Select item 145166597020.

rs1451665970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:19918960 (GRCh38)
22:19906483 (GRCh37)
Canonical SPDI:: NC_000022.11:19918959:T:C
Gene:: TXNRD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000306/5 (ALFA)
C=0.000429/60 (GnomAD)
C=0.000446/2 (Estonian)
C=0.001369/4 (KOREAN)
HGVS:: NC_000022.11:g.19918960T>C, NC_000022.10:g.19906483T>C, NG_011835.1:g.27877A>G, NM_006440.5:c.274A>G, NM_006440.4:c.274A>G, NM_006440.3:c.274A>G, NM_001282512.3:c.274A>G, NM_001282512.2:c.274A>G, NM_001282512.1:c.274A>G, NM_001352300.2:c.271A>G, NM_001352300.1:c.271A>G, NM_001352303.2:c.178A>G, NM_001352303.1:c.178A>G, NM_001352302.2:c.-15A>G, NM_001352302.1:c.-15A>G, NM_001352301.2:c.184A>G, NM_001352301.1:c.184A>G, NR_147957.2:n.232A>G, NR_147957.1:n.406A>G, NM_145748.1:c.184A>G, NM_145747.1:c.-15A>G, NP_006431.2:p.Ile92Val, NP_001269441.1:p.Ile92Val, NP_001339229.1:p.Ile91Val, NP_001339232.1:p.Ile60Val, NP_001339230.1:p.Ile62Val

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