SNP Links for Protein (Select 67782305) - SNP

Links from Protein

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Select item 14899315651.

rs1489931565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:159684974 (GRCh38)
6:160106006 (GRCh37)
Canonical SPDI:: NC_000006.12:159684973:G:C
Gene:: SOD2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159684974G>C, NC_000006.11:g.160106006G>C, NG_008729.3:g.82556C>G, NM_001024465.3:c.403C>G, NM_001024465.2:c.403C>G, NM_001024465.1:c.403C>G, NM_001024466.3:c.286C>G, NM_001024466.2:c.286C>G, NM_001024466.1:c.286C>G, NM_001322817.2:c.265C>G, NM_001322817.1:c.265C>G, NM_000636.4:c.403C>G, NM_000636.3:c.403C>G, NM_000636.2:c.403C>G, NM_001322819.2:c.265C>G, NM_001322819.1:c.265C>G, NM_001322820.2:c.265C>G, NM_001322820.1:c.265C>G, NM_001322814.2:c.286C>G, NM_001322814.1:c.286C>G, NP_001019636.1:p.Leu135Val, NP_001019637.1:p.Leu96Val, NP_001309746.1:p.Leu89Val, NP_000627.2:p.Leu135Val, NP_001309748.1:p.Leu89Val, NP_001309749.1:p.Leu89Val, NP_001309743.1:p.Leu96Val

Select item 14776432362.

rs1477643236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:159688190 (GRCh38)
6:160109222 (GRCh37)
Canonical SPDI:: NC_000006.12:159688189:A:C,NC_000006.12:159688189:A:G
Gene:: SOD2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0./0 (Korea1K)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.159688190A>C, NC_000006.12:g.159688190A>G, NC_000006.11:g.160109222A>C, NC_000006.11:g.160109222A>G, NG_008729.3:g.79340T>G, NG_008729.3:g.79340T>C, NM_001024465.3:c.279T>G, NM_001024465.3:c.279T>C, NM_001024465.2:c.279T>G, NM_001024465.2:c.279T>C, NM_001024465.1:c.279T>G, NM_001024465.1:c.279T>C, NM_001322817.2:c.141T>G, NM_001322817.2:c.141T>C, NM_001322817.1:c.141T>G, NM_001322817.1:c.141T>C, NM_000636.4:c.279T>G, NM_000636.4:c.279T>C, NM_000636.3:c.279T>G, NM_000636.3:c.279T>C, NM_000636.2:c.279T>G, NM_000636.2:c.279T>C, NM_001322819.2:c.141T>G, NM_001322819.2:c.141T>C, NM_001322819.1:c.141T>G, NM_001322819.1:c.141T>C, NM_001322820.2:c.141T>G, NM_001322820.2:c.141T>C, NM_001322820.1:c.141T>G, NM_001322820.1:c.141T>C, NM_001322815.2:c.279T>G, NM_001322815.2:c.279T>C, NM_001322815.1:c.279T>G, NM_001322815.1:c.279T>C

Select item 14755430493.

rs1475543049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:159692767 (GRCh38)
6:160113799 (GRCh37)
Canonical SPDI:: NC_000006.12:159692766:A:C,NC_000006.12:159692766:A:T
Gene:: SOD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000006.12:g.159692767A>C, NC_000006.12:g.159692767A>T, NC_000006.11:g.160113799A>C, NC_000006.11:g.160113799A>T, NG_008729.3:g.74763T>G, NG_008729.3:g.74763T>A, NM_001024465.3:c.120T>G, NM_001024465.3:c.120T>A, NM_001024465.2:c.120T>G, NM_001024465.2:c.120T>A, NM_001024465.1:c.120T>G, NM_001024465.1:c.120T>A, NM_001024466.3:c.120T>G, NM_001024466.3:c.120T>A, NM_001024466.2:c.120T>G, NM_001024466.2:c.120T>A, NM_001024466.1:c.120T>G, NM_001024466.1:c.120T>A, NM_001322817.2:c.-19T>G, NM_001322817.2:c.-19T>A, NM_001322817.1:c.-19T>G, NM_001322817.1:c.-19T>A, NM_001322816.2:c.120T>G, NM_001322816.2:c.120T>A, NM_001322816.1:c.120T>G, NM_001322816.1:c.120T>A, NM_000636.4:c.120T>G, NM_000636.4:c.120T>A, NM_000636.3:c.120T>G, NM_000636.3:c.120T>A, NM_000636.2:c.120T>G, NM_000636.2:c.120T>A, NM_001322819.2:c.-19T>G, NM_001322819.2:c.-19T>A, NM_001322819.1:c.-19T>G, NM_001322819.1:c.-19T>A, NM_001322820.2:c.-19T>G, NM_001322820.2:c.-19T>A, NM_001322820.1:c.-19T>G, NM_001322820.1:c.-19T>A, NM_001322814.2:c.120T>G, NM_001322814.2:c.120T>A, NM_001322814.1:c.120T>G, NM_001322814.1:c.120T>A, NM_001322815.2:c.120T>G, NM_001322815.2:c.120T>A, NM_001322815.1:c.120T>G, NM_001322815.1:c.120T>A

Select item 14723227634.

rs1472322763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:159692721 (GRCh38)
6:160113753 (GRCh37)
Canonical SPDI:: NC_000006.12:159692720:C:G
Gene:: SOD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159692721C>G, NC_000006.11:g.160113753C>G, NG_008729.3:g.74809G>C, NM_001024465.3:c.166G>C, NM_001024465.2:c.166G>C, NM_001024465.1:c.166G>C, NM_001024466.3:c.166G>C, NM_001024466.2:c.166G>C, NM_001024466.1:c.166G>C, NM_001322817.2:c.28G>C, NM_001322817.1:c.28G>C, NM_001322816.2:c.166G>C, NM_001322816.1:c.166G>C, NM_000636.4:c.166G>C, NM_000636.3:c.166G>C, NM_000636.2:c.166G>C, NM_001322819.2:c.28G>C, NM_001322819.1:c.28G>C, NM_001322820.2:c.28G>C, NM_001322820.1:c.28G>C, NM_001322814.2:c.166G>C, NM_001322814.1:c.166G>C, NM_001322815.2:c.166G>C, NM_001322815.1:c.166G>C, NP_001019636.1:p.Ala56Pro, NP_001019637.1:p.Ala56Pro, NP_001309746.1:p.Ala10Pro, NP_001309745.1:p.Ala56Pro, NP_000627.2:p.Ala56Pro, NP_001309748.1:p.Ala10Pro, NP_001309749.1:p.Ala10Pro, NP_001309743.1:p.Ala56Pro, NP_001309744.1:p.Ala56Pro

Select item 14698625925.

rs1469862592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:159682620 (GRCh38)
6:160103652 (GRCh37)
Canonical SPDI:: NC_000006.12:159682619:C:A
Gene:: SOD2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159682620C>A, NC_000006.11:g.160103652C>A, NG_008729.3:g.84910G>T, NM_001024465.3:c.542G>T, NM_001024465.2:c.542G>T, NM_001024465.1:c.542G>T, NM_001024466.3:c.425G>T, NM_001024466.2:c.425G>T, NM_001024466.1:c.425G>T, NM_001322817.2:c.404G>T, NM_001322817.1:c.404G>T, NM_000636.4:c.542G>T, NM_000636.3:c.542G>T, NM_000636.2:c.542G>T, NM_001322819.2:c.404G>T, NM_001322819.1:c.404G>T, NM_001322820.2:c.404G>T, NM_001322820.1:c.404G>T, NM_001322814.2:c.425G>T, NM_001322814.1:c.425G>T, NM_001322815.2:c.362G>T, NM_001322815.1:c.362G>T, NP_001019636.1:p.Gly181Val, NP_001019637.1:p.Gly142Val, NP_001309746.1:p.Gly135Val, NP_000627.2:p.Gly181Val, NP_001309748.1:p.Gly135Val, NP_001309749.1:p.Gly135Val, NP_001309743.1:p.Gly142Val, NP_001309744.1:p.Gly121Val

Select item 14656923036.

rs1465692303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:159693145 (GRCh38)
6:160114177 (GRCh37)
Canonical SPDI:: NC_000006.12:159693144:C:T
Gene:: SOD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000006.12:g.159693145C>T, NC_000006.11:g.160114177C>T, NG_008729.3:g.74385G>A, NM_001024465.3:c.23G>A, NM_001024465.2:c.23G>A, NM_001024465.1:c.23G>A, NM_001024466.3:c.23G>A, NM_001024466.2:c.23G>A, NM_001024466.1:c.23G>A, NM_001322816.2:c.23G>A, NM_001322816.1:c.23G>A, NM_000636.4:c.23G>A, NM_000636.3:c.23G>A, NM_000636.2:c.23G>A, NM_001322814.2:c.23G>A, NM_001322814.1:c.23G>A, NM_001322815.2:c.23G>A, NM_001322815.1:c.23G>A, NP_001019636.1:p.Gly8Asp, NP_001019637.1:p.Gly8Asp, NP_001309745.1:p.Gly8Asp, NP_000627.2:p.Gly8Asp, NP_001309743.1:p.Gly8Asp, NP_001309744.1:p.Gly8Asp

Select item 14638261567.

rs1463826156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:159692803 (GRCh38)
6:160113835 (GRCh37)
Canonical SPDI:: NC_000006.12:159692802:G:A,NC_000006.12:159692802:G:C
Gene:: SOD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_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_000006.12:g.159692803G>A, NC_000006.12:g.159692803G>C, NC_000006.11:g.160113835G>A, NC_000006.11:g.160113835G>C, NG_008729.3:g.74727C>T, NG_008729.3:g.74727C>G, NM_001024465.3:c.84C>T, NM_001024465.3:c.84C>G, NM_001024465.2:c.84C>T, NM_001024465.2:c.84C>G, NM_001024465.1:c.84C>T, NM_001024465.1:c.84C>G, NM_001024466.3:c.84C>T, NM_001024466.3:c.84C>G, NM_001024466.2:c.84C>T, NM_001024466.2:c.84C>G, NM_001024466.1:c.84C>T, NM_001024466.1:c.84C>G, NM_001322817.2:c.-55C>T, NM_001322817.2:c.-55C>G, NM_001322817.1:c.-55C>T, NM_001322817.1:c.-55C>G, NM_001322816.2:c.84C>T, NM_001322816.2:c.84C>G, NM_001322816.1:c.84C>T, NM_001322816.1:c.84C>G, NM_000636.4:c.84C>T, NM_000636.4:c.84C>G, NM_000636.3:c.84C>T, NM_000636.3:c.84C>G, NM_000636.2:c.84C>T, NM_000636.2:c.84C>G, NM_001322819.2:c.-55C>T, NM_001322819.2:c.-55C>G, NM_001322819.1:c.-55C>T, NM_001322819.1:c.-55C>G, NM_001322820.2:c.-55C>T, NM_001322820.2:c.-55C>G, NM_001322820.1:c.-55C>T, NM_001322820.1:c.-55C>G, NM_001322814.2:c.84C>T, NM_001322814.2:c.84C>G, NM_001322814.1:c.84C>T, NM_001322814.1:c.84C>G, NM_001322815.2:c.84C>T, NM_001322815.2:c.84C>G, NM_001322815.1:c.84C>T, NM_001322815.1:c.84C>G

Select item 14617281398.

rs1461728139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:159692775 (GRCh38)
6:160113807 (GRCh37)
Canonical SPDI:: NC_000006.12:159692774:G:A
Gene:: SOD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.159692775G>A, NC_000006.11:g.160113807G>A, NG_008729.3:g.74755C>T, NM_001024465.3:c.112C>T, NM_001024465.2:c.112C>T, NM_001024465.1:c.112C>T, NM_001024466.3:c.112C>T, NM_001024466.2:c.112C>T, NM_001024466.1:c.112C>T, NM_001322817.2:c.-27C>T, NM_001322817.1:c.-27C>T, NM_001322816.2:c.112C>T, NM_001322816.1:c.112C>T, NM_000636.4:c.112C>T, NM_000636.3:c.112C>T, NM_000636.2:c.112C>T, NM_001322819.2:c.-27C>T, NM_001322819.1:c.-27C>T, NM_001322820.2:c.-27C>T, NM_001322820.1:c.-27C>T, NM_001322814.2:c.112C>T, NM_001322814.1:c.112C>T, NM_001322815.2:c.112C>T, NM_001322815.1:c.112C>T

Select item 14611628849.

rs1461162884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:159688211 (GRCh38)
6:160109243 (GRCh37)
Canonical SPDI:: NC_000006.12:159688210:A:G
Gene:: SOD2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159688211A>G, NC_000006.11:g.160109243A>G, NG_008729.3:g.79319T>C, NM_001024465.3:c.258T>C, NM_001024465.2:c.258T>C, NM_001024465.1:c.258T>C, NM_001322817.2:c.120T>C, NM_001322817.1:c.120T>C, NM_000636.4:c.258T>C, NM_000636.3:c.258T>C, NM_000636.2:c.258T>C, NM_001322819.2:c.120T>C, NM_001322819.1:c.120T>C, NM_001322820.2:c.120T>C, NM_001322820.1:c.120T>C, NM_001322815.2:c.258T>C, NM_001322815.1:c.258T>C

Select item 145712471410.

rs1457124714 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:159692673 (GRCh38)
6:160113705 (GRCh37)
Canonical SPDI:: NC_000006.12:159692672:C:T
Gene:: SOD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159692673C>T, NC_000006.11:g.160113705C>T, NG_008729.3:g.74857G>A, NM_001024465.3:c.214G>A, NM_001024465.2:c.214G>A, NM_001024465.1:c.214G>A, NM_001024466.3:c.214G>A, NM_001024466.2:c.214G>A, NM_001024466.1:c.214G>A, NM_001322817.2:c.76G>A, NM_001322817.1:c.76G>A, NM_001322816.2:c.214G>A, NM_001322816.1:c.214G>A, NM_000636.4:c.214G>A, NM_000636.3:c.214G>A, NM_000636.2:c.214G>A, NM_001322819.2:c.76G>A, NM_001322819.1:c.76G>A, NM_001322820.2:c.76G>A, NM_001322820.1:c.76G>A, NM_001322814.2:c.214G>A, NM_001322814.1:c.214G>A, NM_001322815.2:c.214G>A, NM_001322815.1:c.214G>A, NP_001019636.1:p.Ala72Thr, NP_001019637.1:p.Ala72Thr, NP_001309746.1:p.Ala26Thr, NP_001309745.1:p.Ala72Thr, NP_000627.2:p.Ala72Thr, NP_001309748.1:p.Ala26Thr, NP_001309749.1:p.Ala26Thr, NP_001309743.1:p.Ala72Thr, NP_001309744.1:p.Ala72Thr

Select item 145693887711.

rs1456938877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:159692854 (GRCh38)
6:160113886 (GRCh37)
Canonical SPDI:: NC_000006.12:159692853:C:A,NC_000006.12:159692853:C:T
Gene:: SOD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.159692854C>A, NC_000006.12:g.159692854C>T, NC_000006.11:g.160113886C>A, NC_000006.11:g.160113886C>T, NG_008729.3:g.74676G>T, NG_008729.3:g.74676G>A, NM_001024465.3:c.33G>T, NM_001024465.3:c.33G>A, NM_001024465.2:c.33G>T, NM_001024465.2:c.33G>A, NM_001024465.1:c.33G>T, NM_001024465.1:c.33G>A, NM_001024466.3:c.33G>T, NM_001024466.3:c.33G>A, NM_001024466.2:c.33G>T, NM_001024466.2:c.33G>A, NM_001024466.1:c.33G>T, NM_001024466.1:c.33G>A, NM_001322817.2:c.-106G>T, NM_001322817.2:c.-106G>A, NM_001322817.1:c.-106G>T, NM_001322817.1:c.-106G>A, NM_001322816.2:c.33G>T, NM_001322816.2:c.33G>A, NM_001322816.1:c.33G>T, NM_001322816.1:c.33G>A, NM_000636.4:c.33G>T, NM_000636.4:c.33G>A, NM_000636.3:c.33G>T, NM_000636.3:c.33G>A, NM_000636.2:c.33G>T, NM_000636.2:c.33G>A, NM_001322819.2:c.-106G>T, NM_001322819.2:c.-106G>A, NM_001322819.1:c.-106G>T, NM_001322819.1:c.-106G>A, NM_001322820.2:c.-106G>T, NM_001322820.2:c.-106G>A, NM_001322820.1:c.-106G>T, NM_001322820.1:c.-106G>A, NM_001322814.2:c.33G>T, NM_001322814.2:c.33G>A, NM_001322814.1:c.33G>T, NM_001322814.1:c.33G>A, NM_001322815.2:c.33G>T, NM_001322815.2:c.33G>A, NM_001322815.1:c.33G>T, NM_001322815.1:c.33G>A, NP_001019636.1:p.Arg11Ser, NP_001019637.1:p.Arg11Ser, NP_001309745.1:p.Arg11Ser, NP_000627.2:p.Arg11Ser, NP_001309743.1:p.Arg11Ser, NP_001309744.1:p.Arg11Ser

Select item 145444169612.

rs1454441696 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:159682528 (GRCh38)
6:160103560 (GRCh37)
Canonical SPDI:: NC_000006.12:159682527:T:C
Gene:: SOD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159682528T>C, NC_000006.11:g.160103560T>C, NG_008729.3:g.85002A>G, NM_001024465.3:c.634A>G, NM_001024465.2:c.634A>G, NM_001024465.1:c.634A>G, NM_001024466.3:c.517A>G, NM_001024466.2:c.517A>G, NM_001024466.1:c.517A>G, NM_001322817.2:c.496A>G, NM_001322817.1:c.496A>G, NM_000636.4:c.634A>G, NM_000636.3:c.634A>G, NM_000636.2:c.634A>G, NM_001322819.2:c.496A>G, NM_001322819.1:c.496A>G, NM_001322820.2:c.496A>G, NM_001322820.1:c.496A>G, NM_001322814.2:c.517A>G, NM_001322814.1:c.517A>G, NM_001322815.2:c.454A>G, NM_001322815.1:c.454A>G, NP_001019636.1:p.Asn212Asp, NP_001019637.1:p.Asn173Asp, NP_001309746.1:p.Asn166Asp, NP_000627.2:p.Asn212Asp, NP_001309748.1:p.Asn166Asp, NP_001309749.1:p.Asn166Asp, NP_001309743.1:p.Asn173Asp, NP_001309744.1:p.Asn152Asp

Select item 144592675513.

rs1445926755 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:159682495 (GRCh38)
6:160103527 (GRCh37)
Canonical SPDI:: NC_000006.12:159682494:A:C
Gene:: SOD2 (Varview)
Functional Consequence:: stop_lost,genic_downstream_transcript_variant,terminator_codon_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159682495A>C, NC_000006.11:g.160103527A>C, NG_008729.3:g.85035T>G, NM_001024465.3:c.667T>G, NM_001024465.2:c.667T>G, NM_001024465.1:c.667T>G, NM_001024466.3:c.550T>G, NM_001024466.2:c.550T>G, NM_001024466.1:c.550T>G, NM_001322817.2:c.529T>G, NM_001322817.1:c.529T>G, NM_000636.4:c.667T>G, NM_000636.3:c.667T>G, NM_000636.2:c.667T>G, NM_001322819.2:c.529T>G, NM_001322819.1:c.529T>G, NM_001322820.2:c.529T>G, NM_001322820.1:c.529T>G, NM_001322814.2:c.550T>G, NM_001322814.1:c.550T>G, NM_001322815.2:c.487T>G, NM_001322815.1:c.487T>G, NP_001019636.1:p.Ter223Glu, NP_001019637.1:p.Ter184Glu, NP_001309746.1:p.Ter177Glu, NP_000627.2:p.Ter223Glu, NP_001309748.1:p.Ter177Glu, NP_001309749.1:p.Ter177Glu, NP_001309743.1:p.Ter184Glu, NP_001309744.1:p.Ter163Glu

Select item 144043805814.

rs1440438058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:159684906 (GRCh38)
6:160105938 (GRCh37)
Canonical SPDI:: NC_000006.12:159684905:T:C
Gene:: SOD2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.159684906T>C, NC_000006.11:g.160105938T>C, NG_008729.3:g.82624A>G, NM_001024465.3:c.471A>G, NM_001024465.2:c.471A>G, NM_001024465.1:c.471A>G, NM_001024466.3:c.354A>G, NM_001024466.2:c.354A>G, NM_001024466.1:c.354A>G, NM_001322817.2:c.333A>G, NM_001322817.1:c.333A>G, NM_000636.4:c.471A>G, NM_000636.3:c.471A>G, NM_000636.2:c.471A>G, NM_001322819.2:c.333A>G, NM_001322819.1:c.333A>G, NM_001322820.2:c.333A>G, NM_001322820.1:c.333A>G, NM_001322814.2:c.354A>G, NM_001322814.1:c.354A>G

Select item 143745593915.

rs1437455939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:159684863 (GRCh38)
6:160105895 (GRCh37)
Canonical SPDI:: NC_000006.12:159684862:C:T
Gene:: SOD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159684863C>T, NC_000006.11:g.160105895C>T, NG_008729.3:g.82667G>A, NM_001024465.3:c.514G>A, NM_001024465.2:c.514G>A, NM_001024465.1:c.514G>A, NM_001024466.3:c.397G>A, NM_001024466.2:c.397G>A, NM_001024466.1:c.397G>A, NM_001322817.2:c.376G>A, NM_001322817.1:c.376G>A, NM_000636.4:c.514G>A, NM_000636.3:c.514G>A, NM_000636.2:c.514G>A, NM_001322819.2:c.376G>A, NM_001322819.1:c.376G>A, NM_001322820.2:c.376G>A, NM_001322820.1:c.376G>A, NM_001322814.2:c.397G>A, NM_001322814.1:c.397G>A, NP_001019636.1:p.Gly172Arg, NP_001019637.1:p.Gly133Arg, NP_001309746.1:p.Gly126Arg, NP_000627.2:p.Gly172Arg, NP_001309748.1:p.Gly126Arg, NP_001309749.1:p.Gly126Arg, NP_001309743.1:p.Gly133Arg

Select item 143246560716.

rs1432465607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:159682601 (GRCh38)
6:160103633 (GRCh37)
Canonical SPDI:: NC_000006.12:159682600:G:A
Gene:: SOD2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.159682601G>A, NC_000006.11:g.160103633G>A, NG_008729.3:g.84929C>T, NM_001024465.3:c.561C>T, NM_001024465.2:c.561C>T, NM_001024465.1:c.561C>T, NM_001024466.3:c.444C>T, NM_001024466.2:c.444C>T, NM_001024466.1:c.444C>T, NM_001322817.2:c.423C>T, NM_001322817.1:c.423C>T, NM_000636.4:c.561C>T, NM_000636.3:c.561C>T, NM_000636.2:c.561C>T, NM_001322819.2:c.423C>T, NM_001322819.1:c.423C>T, NM_001322820.2:c.423C>T, NM_001322820.1:c.423C>T, NM_001322814.2:c.444C>T, NM_001322814.1:c.444C>T, NM_001322815.2:c.381C>T, NM_001322815.1:c.381C>T

Select item 143146388717.

rs1431463887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:159684877 (GRCh38)
6:160105909 (GRCh37)
Canonical SPDI:: NC_000006.12:159684876:T:A
Gene:: SOD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159684877T>A, NC_000006.11:g.160105909T>A, NG_008729.3:g.82653A>T, NM_001024465.3:c.500A>T, NM_001024465.2:c.500A>T, NM_001024465.1:c.500A>T, NM_001024466.3:c.383A>T, NM_001024466.2:c.383A>T, NM_001024466.1:c.383A>T, NM_001322817.2:c.362A>T, NM_001322817.1:c.362A>T, NM_000636.4:c.500A>T, NM_000636.3:c.500A>T, NM_000636.2:c.500A>T, NM_001322819.2:c.362A>T, NM_001322819.1:c.362A>T, NM_001322820.2:c.362A>T, NM_001322820.1:c.362A>T, NM_001322814.2:c.383A>T, NM_001322814.1:c.383A>T, NP_001019636.1:p.Gln167Leu, NP_001019637.1:p.Gln128Leu, NP_001309746.1:p.Gln121Leu, NP_000627.2:p.Gln167Leu, NP_001309748.1:p.Gln121Leu, NP_001309749.1:p.Gln121Leu, NP_001309743.1:p.Gln128Leu

Select item 142730708918.

rs1427307089 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:159692748 (GRCh38)
6:160113780 (GRCh37)
Canonical SPDI:: NC_000006.12:159692747:T:C,NC_000006.12:159692747:T:G
Gene:: SOD2 (Varview)
Functional Consequence:: initiator_codon_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.159692748T>C, NC_000006.12:g.159692748T>G, NC_000006.11:g.160113780T>C, NC_000006.11:g.160113780T>G, NG_008729.3:g.74782A>G, NG_008729.3:g.74782A>C, NM_001024465.3:c.139A>G, NM_001024465.3:c.139A>C, NM_001024465.2:c.139A>G, NM_001024465.2:c.139A>C, NM_001024465.1:c.139A>G, NM_001024465.1:c.139A>C, NM_001024466.3:c.139A>G, NM_001024466.3:c.139A>C, NM_001024466.2:c.139A>G, NM_001024466.2:c.139A>C, NM_001024466.1:c.139A>G, NM_001024466.1:c.139A>C, NM_001322817.2:c.1A>G, NM_001322817.2:c.1A>C, NM_001322817.1:c.1A>G, NM_001322817.1:c.1A>C, NM_001322816.2:c.139A>G, NM_001322816.2:c.139A>C, NM_001322816.1:c.139A>G, NM_001322816.1:c.139A>C, NM_000636.4:c.139A>G, NM_000636.4:c.139A>C, NM_000636.3:c.139A>G, NM_000636.3:c.139A>C, NM_000636.2:c.139A>G, NM_000636.2:c.139A>C, NM_001322819.2:c.1A>G, NM_001322819.2:c.1A>C, NM_001322819.1:c.1A>G, NM_001322819.1:c.1A>C, NM_001322820.2:c.1A>G, NM_001322820.2:c.1A>C, NM_001322820.1:c.1A>G, NM_001322820.1:c.1A>C, NM_001322814.2:c.139A>G, NM_001322814.2:c.139A>C, NM_001322814.1:c.139A>G, NM_001322814.1:c.139A>C, NM_001322815.2:c.139A>G, NM_001322815.2:c.139A>C, NM_001322815.1:c.139A>G, NM_001322815.1:c.139A>C, NP_001019636.1:p.Met47Val, NP_001019636.1:p.Met47Leu, NP_001019637.1:p.Met47Val, NP_001019637.1:p.Met47Leu, NP_001309746.1:p.Met1Val, NP_001309746.1:p.Met1Leu, NP_001309745.1:p.Met47Val, NP_001309745.1:p.Met47Leu, NP_000627.2:p.Met47Val, NP_000627.2:p.Met47Leu, NP_001309748.1:p.Met1Val, NP_001309748.1:p.Met1Leu, NP_001309749.1:p.Met1Val, NP_001309749.1:p.Met1Leu, NP_001309743.1:p.Met47Val, NP_001309743.1:p.Met47Leu, NP_001309744.1:p.Met47Val, NP_001309744.1:p.Met47Leu

Select item 142137304819.

rs1421373048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:159692753 (GRCh38)
6:160113785 (GRCh37)
Canonical SPDI:: NC_000006.12:159692752:T:A,NC_000006.12:159692752:T:C
Gene:: SOD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00047/5 (ALFA)
HGVS:: NC_000006.12:g.159692753T>A, NC_000006.12:g.159692753T>C, NC_000006.11:g.160113785T>A, NC_000006.11:g.160113785T>C, NG_008729.3:g.74777A>T, NG_008729.3:g.74777A>G, NM_001024465.3:c.134A>T, NM_001024465.3:c.134A>G, NM_001024465.2:c.134A>T, NM_001024465.2:c.134A>G, NM_001024465.1:c.134A>T, NM_001024465.1:c.134A>G, NM_001024466.3:c.134A>T, NM_001024466.3:c.134A>G, NM_001024466.2:c.134A>T, NM_001024466.2:c.134A>G, NM_001024466.1:c.134A>T, NM_001024466.1:c.134A>G, NM_001322817.2:c.-5A>T, NM_001322817.2:c.-5A>G, NM_001322817.1:c.-5A>T, NM_001322817.1:c.-5A>G, NM_001322816.2:c.134A>T, NM_001322816.2:c.134A>G, NM_001322816.1:c.134A>T, NM_001322816.1:c.134A>G, NM_000636.4:c.134A>T, NM_000636.4:c.134A>G, NM_000636.3:c.134A>T, NM_000636.3:c.134A>G, NM_000636.2:c.134A>T, NM_000636.2:c.134A>G, NM_001322819.2:c.-5A>T, NM_001322819.2:c.-5A>G, NM_001322819.1:c.-5A>T, NM_001322819.1:c.-5A>G, NM_001322820.2:c.-5A>T, NM_001322820.2:c.-5A>G, NM_001322820.1:c.-5A>T, NM_001322820.1:c.-5A>G, NM_001322814.2:c.134A>T, NM_001322814.2:c.134A>G, NM_001322814.1:c.134A>T, NM_001322814.1:c.134A>G, NM_001322815.2:c.134A>T, NM_001322815.2:c.134A>G, NM_001322815.1:c.134A>T, NM_001322815.1:c.134A>G, NP_001019636.1:p.Gln45Leu, NP_001019636.1:p.Gln45Arg, NP_001019637.1:p.Gln45Leu, NP_001019637.1:p.Gln45Arg, NP_001309745.1:p.Gln45Leu, NP_001309745.1:p.Gln45Arg, NP_000627.2:p.Gln45Leu, NP_000627.2:p.Gln45Arg, NP_001309743.1:p.Gln45Leu, NP_001309743.1:p.Gln45Arg, NP_001309744.1:p.Gln45Leu, NP_001309744.1:p.Gln45Arg

Select item 141780455520.

rs1417804555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:159692760 (GRCh38)
6:160113792 (GRCh37)
Canonical SPDI:: NC_000006.12:159692759:T:A,NC_000006.12:159692759:T:C
Gene:: SOD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.159692760T>A, NC_000006.12:g.159692760T>C, NC_000006.11:g.160113792T>A, NC_000006.11:g.160113792T>C, NG_008729.3:g.74770A>T, NG_008729.3:g.74770A>G, NM_001024465.3:c.127A>T, NM_001024465.3:c.127A>G, NM_001024465.2:c.127A>T, NM_001024465.2:c.127A>G, NM_001024465.1:c.127A>T, NM_001024465.1:c.127A>G, NM_001024466.3:c.127A>T, NM_001024466.3:c.127A>G, NM_001024466.2:c.127A>T, NM_001024466.2:c.127A>G, NM_001024466.1:c.127A>T, NM_001024466.1:c.127A>G, NM_001322817.2:c.-12A>T, NM_001322817.2:c.-12A>G, NM_001322817.1:c.-12A>T, NM_001322817.1:c.-12A>G, NM_001322816.2:c.127A>T, NM_001322816.2:c.127A>G, NM_001322816.1:c.127A>T, NM_001322816.1:c.127A>G, NM_000636.4:c.127A>T, NM_000636.4:c.127A>G, NM_000636.3:c.127A>T, NM_000636.3:c.127A>G, NM_000636.2:c.127A>T, NM_000636.2:c.127A>G, NM_001322819.2:c.-12A>T, NM_001322819.2:c.-12A>G, NM_001322819.1:c.-12A>T, NM_001322819.1:c.-12A>G, NM_001322820.2:c.-12A>T, NM_001322820.2:c.-12A>G, NM_001322820.1:c.-12A>T, NM_001322820.1:c.-12A>G, NM_001322814.2:c.127A>T, NM_001322814.2:c.127A>G, NM_001322814.1:c.127A>T, NM_001322814.1:c.127A>G, NM_001322815.2:c.127A>T, NM_001322815.2:c.127A>G, NM_001322815.1:c.127A>T, NM_001322815.1:c.127A>G, NP_001019636.1:p.Asn43Tyr, NP_001019636.1:p.Asn43Asp, NP_001019637.1:p.Asn43Tyr, NP_001019637.1:p.Asn43Asp, NP_001309745.1:p.Asn43Tyr, NP_001309745.1:p.Asn43Asp, NP_000627.2:p.Asn43Tyr, NP_000627.2:p.Asn43Asp, NP_001309743.1:p.Asn43Tyr, NP_001309743.1:p.Asn43Asp, NP_001309744.1:p.Asn43Tyr, NP_001309744.1:p.Asn43Asp

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