SNP Links for Gene (Select 6648) - SNP

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Select item 14915788341.

rs1491578834 has merged into rs11289847 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 6:159680957 (GRCh38)
6:160101989 (GRCh37)
Canonical SPDI:: NC_000006.12:159680946:AAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:159680946:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:159680946:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:159680946:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:159680946:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: SOD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.26418/1323 (1000Genomes)
HGVS:: NC_000006.12:g.159680957_159680958del, NC_000006.12:g.159680958del, NC_000006.12:g.159680958dup, NC_000006.12:g.159680957_159680958dup, NC_000006.12:g.159680956_159680958dup, NC_000006.11:g.160101989_160101990del, NC_000006.11:g.160101990del, NC_000006.11:g.160101990dup, NC_000006.11:g.160101989_160101990dup, NC_000006.11:g.160101988_160101990dup, NG_008729.3:g.86582_86583del, NG_008729.3:g.86583del, NG_008729.3:g.86583dup, NG_008729.3:g.86582_86583dup, NG_008729.3:g.86581_86583dup, NM_000636.4:c.*1545_*1546del, NM_000636.4:c.*1546del, NM_000636.4:c.*1546dup, NM_000636.4:c.*1545_*1546dup, NM_000636.4:c.*1544_*1546dup, NM_000636.3:c.*1545_*1546del, NM_000636.3:c.*1546del, NM_000636.3:c.*1546dup, NM_000636.3:c.*1545_*1546dup, NM_000636.3:c.*1544_*1546dup, NM_001322819.2:c.*1545_*1546del, NM_001322819.2:c.*1546del, NM_001322819.2:c.*1546dup, NM_001322819.2:c.*1545_*1546dup, NM_001322819.2:c.*1544_*1546dup, NM_001322819.1:c.*1545_*1546del, NM_001322819.1:c.*1546del, NM_001322819.1:c.*1546dup, NM_001322819.1:c.*1545_*1546dup, NM_001322819.1:c.*1544_*1546dup, NM_001322820.2:c.*1545_*1546del, NM_001322820.2:c.*1546del, NM_001322820.2:c.*1546dup, NM_001322820.2:c.*1545_*1546dup, NM_001322820.2:c.*1544_*1546dup, NM_001322820.1:c.*1545_*1546del, NM_001322820.1:c.*1546del, NM_001322820.1:c.*1546dup, NM_001322820.1:c.*1545_*1546dup, NM_001322820.1:c.*1544_*1546dup, NM_001322814.2:c.*1545_*1546del, NM_001322814.2:c.*1546del, NM_001322814.2:c.*1546dup, NM_001322814.2:c.*1545_*1546dup, NM_001322814.2:c.*1544_*1546dup, NM_001322814.1:c.*1545_*1546del, NM_001322814.1:c.*1546del, NM_001322814.1:c.*1546dup, NM_001322814.1:c.*1545_*1546dup, NM_001322814.1:c.*1544_*1546dup, NM_001322815.2:c.*1545_*1546del, NM_001322815.2:c.*1546del, NM_001322815.2:c.*1546dup, NM_001322815.2:c.*1545_*1546dup, NM_001322815.2:c.*1544_*1546dup, NM_001322815.1:c.*1545_*1546del, NM_001322815.1:c.*1546del, NM_001322815.1:c.*1546dup, NM_001322815.1:c.*1545_*1546dup, NM_001322815.1:c.*1544_*1546dup

Select item 14915274882.

rs1491527488 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:159702680 (GRCh38)
6:160123712 (GRCh37)
Canonical SPDI:: NC_000006.12:159702678:AGA:A
Gene:: SOD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.002529/30 (ALFA)
-=0.002338/310 (GnomAD)
HGVS:: NC_000006.12:g.159702680_159702681del, NC_000006.11:g.160123712_160123713del, NG_008729.3:g.64850_64851del

Select item 14915251213.

rs1491525121 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14915072004.

rs1491507200 has merged into rs66652436 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:159698584 (GRCh38)
6:160119616 (GRCh37)
Canonical SPDI:: NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159698571:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SOD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAA=0./0 (GENOME_DK)
AAAAAAAAAA=0.1442/722 (1000Genomes)
HGVS:: NC_000006.12:g.159698584_159698597del, NC_000006.12:g.159698585_159698597del, NC_000006.12:g.159698586_159698597del, NC_000006.12:g.159698587_159698597del, NC_000006.12:g.159698588_159698597del, NC_000006.12:g.159698589_159698597del, NC_000006.12:g.159698590_159698597del, NC_000006.12:g.159698591_159698597del, NC_000006.12:g.159698592_159698597del, NC_000006.12:g.159698593_159698597del, NC_000006.12:g.159698594_159698597del, NC_000006.12:g.159698595_159698597del, NC_000006.12:g.159698596_159698597del, NC_000006.12:g.159698597del, NC_000006.12:g.159698597dup, NC_000006.12:g.159698596_159698597dup, NC_000006.12:g.159698595_159698597dup, NC_000006.12:g.159698594_159698597dup, NC_000006.12:g.159698585_159698597dup, NC_000006.11:g.160119616_160119629del, NC_000006.11:g.160119617_160119629del, NC_000006.11:g.160119618_160119629del, NC_000006.11:g.160119619_160119629del, NC_000006.11:g.160119620_160119629del, NC_000006.11:g.160119621_160119629del, NC_000006.11:g.160119622_160119629del, NC_000006.11:g.160119623_160119629del, NC_000006.11:g.160119624_160119629del, NC_000006.11:g.160119625_160119629del, NC_000006.11:g.160119626_160119629del, NC_000006.11:g.160119627_160119629del, NC_000006.11:g.160119628_160119629del, NC_000006.11:g.160119629del, NC_000006.11:g.160119629dup, NC_000006.11:g.160119628_160119629dup, NC_000006.11:g.160119627_160119629dup, NC_000006.11:g.160119626_160119629dup, NC_000006.11:g.160119617_160119629dup, NG_008729.3:g.68945_68958del, NG_008729.3:g.68946_68958del, NG_008729.3:g.68947_68958del, NG_008729.3:g.68948_68958del, NG_008729.3:g.68949_68958del, NG_008729.3:g.68950_68958del, NG_008729.3:g.68951_68958del, NG_008729.3:g.68952_68958del, NG_008729.3:g.68953_68958del, NG_008729.3:g.68954_68958del, NG_008729.3:g.68955_68958del, NG_008729.3:g.68956_68958del, NG_008729.3:g.68957_68958del, NG_008729.3:g.68958del, NG_008729.3:g.68958dup, NG_008729.3:g.68957_68958dup, NG_008729.3:g.68956_68958dup, NG_008729.3:g.68955_68958dup, NG_008729.3:g.68946_68958dup

Select item 14915035295.

rs1491503529 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:159715904 (GRCh38)
6:160136937 (GRCh37)
Canonical SPDI:: NC_000006.12:159715904::G
Gene:: SOD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.159715904_159715905insG, NC_000006.11:g.160136936_160136937insG, NG_008729.3:g.51625_51626insC

Select item 14915008456.

rs1491500845 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:159734375 (GRCh38)
6:160155407 (GRCh37)
Canonical SPDI:: NC_000006.12:159734374:CA:
Gene:: SOD2 (Varview), WTAP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00431/16 (TWINSUK)
-=0.00778/30 (ALSPAC)
HGVS:: NC_000006.12:g.159734375_159734376del, NC_000006.11:g.160155407_160155408del, NG_008729.3:g.33154_33155del

Select item 14914651107.

rs1491465110 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 6:159763628 (GRCh38)
6:160184661 (GRCh37)
Canonical SPDI:: NC_000006.12:159763628::T,NC_000006.12:159763628::TTT,NC_000006.12:159763628::TTTT,NC_000006.12:159763628::TTTTT,NC_000006.12:159763628::TTTTTT
Gene:: ACAT2 (Varview), SOD2 (Varview), SOD2-OT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000006.12:g.159763628_159763629insT, NC_000006.12:g.159763628_159763629insTTT, NC_000006.12:g.159763628_159763629insTTTT, NC_000006.12:g.159763628_159763629insTTTTT, NC_000006.12:g.159763628_159763629insTTTTTT, NC_000006.11:g.160184660_160184661insT, NC_000006.11:g.160184660_160184661insTTT, NC_000006.11:g.160184660_160184661insTTTT, NC_000006.11:g.160184660_160184661insTTTTT, NC_000006.11:g.160184660_160184661insTTTTTT, NG_008729.3:g.3901_3902insA, NG_008729.3:g.3901_3902insAAA, NG_008729.3:g.3901_3902insAAAA, NG_008729.3:g.3901_3902insAAAAA, NG_008729.3:g.3901_3902insAAAAAA, NG_023389.2:g.6672_6673insT, NG_023389.2:g.6672_6673insTTT, NG_023389.2:g.6672_6673insTTTT, NG_023389.2:g.6672_6673insTTTTT, NG_023389.2:g.6672_6673insTTTTTT

Select item 14914614288.

rs1491461428 has merged into rs1319571140 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 6:159691726 (GRCh38)
6:160112758 (GRCh37)
Canonical SPDI:: NC_000006.12:159691723:GAGA:GA,NC_000006.12:159691723:GAGA:GAGAGA
Gene:: SOD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.159691724GA[1], NC_000006.12:g.159691724GA[3], NC_000006.11:g.160112756GA[1], NC_000006.11:g.160112756GA[3], NG_008729.3:g.75803TC[1], NG_008729.3:g.75803TC[3], NM_001322816.2:c.*737TC[1], NM_001322816.2:c.*737TC[3], NM_001322816.1:c.*737TC[1], NM_001322816.1:c.*737TC[3]

Select item 14914600479.

rs1491460047 has merged into rs36055546 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 6:159715915 (GRCh38)
6:160136947 (GRCh37)
Canonical SPDI:: NC_000006.12:159715903:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:159715903:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:159715903:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:159715903:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:159715903:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:159715903:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SOD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000006.12:g.159715915_159715920del, NC_000006.12:g.159715917_159715920del, NC_000006.12:g.159715919_159715920del, NC_000006.12:g.159715920del, NC_000006.12:g.159715920dup, NC_000006.12:g.159715919_159715920dup, NC_000006.11:g.160136947_160136952del, NC_000006.11:g.160136949_160136952del, NC_000006.11:g.160136951_160136952del, NC_000006.11:g.160136952del, NC_000006.11:g.160136952dup, NC_000006.11:g.160136951_160136952dup, NG_008729.3:g.51621_51626del, NG_008729.3:g.51623_51626del, NG_008729.3:g.51625_51626del, NG_008729.3:g.51626del, NG_008729.3:g.51626dup, NG_008729.3:g.51625_51626dup

Select item 149139531210.

rs1491395312 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:159750847 (GRCh38)
6:160171879 (GRCh37)
Canonical SPDI:: NC_000006.12:159750846:GT:
Gene:: SOD2 (Varview), WTAP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0124/46 (TWINSUK)
-=0.014/54 (ALSPAC)
HGVS:: NC_000006.12:g.159750847_159750848del, NC_000006.11:g.160171879_160171880del, NG_008729.3:g.16682_16683del

Select item 149139509311.

rs1491395093 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:159701569 (GRCh38)
6:160122601 (GRCh37)
Canonical SPDI:: NC_000006.12:159701568:CA:
Gene:: SOD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.01294/48 (TWINSUK)
-=0.01842/71 (ALSPAC)
HGVS:: NC_000006.12:g.159701569_159701570del, NC_000006.11:g.160122601_160122602del, NG_008729.3:g.65960_65961del

Select item 149135797512.

rs1491357975 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CGGTGGTCGCCGTATCATTAAAAAA
Chromosome:: no mapping
Canonical SPDI:

Select item 149131180213.

rs1491311802 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 6:159746491 (GRCh38)
6:160167523 (GRCh37)
Canonical SPDI:: NC_000006.12:159746488:TTTT:TT
Gene:: SOD2 (Varview), WTAP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.0022/36 (ALFA)
-=0.00007/2 (TOMMO)
HGVS:: NC_000006.12:g.159746491_159746492del, NC_000006.11:g.160167523_160167524del, NG_008729.3:g.21040_21041del

Select item 149129581314.

rs1491295813 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GA
Chromosome:: no mapping
Canonical SPDI:

Select item 149128877915.

Error occurred: cannot get document summary

Select item 149126314316.

rs1491263143 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:159758256 (GRCh38)
6:160179289 (GRCh37)
Canonical SPDI:: NC_000006.12:159758256::G
Gene:: SOD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000285/4 (ALFA)
G=0.000094/25 (TOPMED)
G=0.000177/11 (GnomAD)
HGVS:: NC_000006.12:g.159758256_159758257insG, NC_000006.11:g.160179288_160179289insG, NG_008729.3:g.9273_9274insC, NG_023389.2:g.1300_1301insG

Select item 149125773117.

rs1491257731 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACACACACGC,ACACACACACACGC,ACACACACACGC,ACACACACGC,ACACACGC,ACACGC,ACGC,C [Show Flanks]
Chromosome:: 6:159697079 (GRCh38)
6:160118112 (GRCh37)
Canonical SPDI:: NC_000006.12:159697079:C:CACACACACACACACGC,NC_000006.12:159697079:C:CACACACACACACGC,NC_000006.12:159697079:C:CACACACACACGC,NC_000006.12:159697079:C:CACACACACGC,NC_000006.12:159697079:C:CACACACGC,NC_000006.12:159697079:C:CACACGC,NC_000006.12:159697079:C:CACGC,NC_000006.12:159697079:C:CC
Gene:: SOD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACGC=0./0 (ALFA)
HGVS:: NC_000006.12:g.159697080CA[7]CGC[1], NC_000006.12:g.159697080CA[6]CGC[1], NC_000006.12:g.159697080CA[5]CGC[1], NC_000006.12:g.159697080CA[4]CGC[1], NC_000006.12:g.159697080CA[3]CGC[1], NC_000006.12:g.159697080CA[2]CGC[1], NC_000006.12:g.159697080_159697081insACGC, NC_000006.12:g.159697080dup, NC_000006.11:g.160118112CA[7]CGC[1], NC_000006.11:g.160118112CA[6]CGC[1], NC_000006.11:g.160118112CA[5]CGC[1], NC_000006.11:g.160118112CA[4]CGC[1], NC_000006.11:g.160118112CA[3]CGC[1], NC_000006.11:g.160118112CA[2]CGC[1], NC_000006.11:g.160118112_160118113insACGC, NC_000006.11:g.160118112dup, NG_008729.3:g.70450_70451insCGTGTGTGTGTGTGTG, NG_008729.3:g.70450_70451insCGTGTGTGTGTGTG, NG_008729.3:g.70450_70451insCGTGTGTGTGTG, NG_008729.3:g.70450_70451insCGTGTGTGTG, NG_008729.3:g.70450_70451insCGTGTGTG, NG_008729.3:g.70450_70451insCGTGTG, NG_008729.3:g.70450_70451insCGTG, NG_008729.3:g.70450dup

Select item 149116803318.

rs1491168033 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 6:159763628 (GRCh38)
6:160184660 (GRCh37)
Canonical SPDI:: NC_000006.12:159763627:CC:
Gene:: ACAT2 (Varview), SOD2 (Varview), SOD2-OT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.159763628_159763629del, NC_000006.11:g.160184660_160184661del, NG_008729.3:g.3901_3902del, NG_023389.2:g.6672_6673del

Select item 149116600819.

rs1491166008 has merged into rs35334577 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 6:159697049 (GRCh38)
6:160118081 (GRCh37)
Canonical SPDI:: NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:159697034:ACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: SOD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000006.12:g.159697035AC[7], NC_000006.12:g.159697035AC[9], NC_000006.12:g.159697035AC[10], NC_000006.12:g.159697035AC[11], NC_000006.12:g.159697035AC[12], NC_000006.12:g.159697035AC[13], NC_000006.12:g.159697035AC[14], NC_000006.12:g.159697035AC[15], NC_000006.12:g.159697035AC[16], NC_000006.12:g.159697035AC[17], NC_000006.12:g.159697035AC[18], NC_000006.12:g.159697035AC[19], NC_000006.12:g.159697035AC[20], NC_000006.12:g.159697035AC[21], NC_000006.12:g.159697035AC[22], NC_000006.12:g.159697035AC[24], NC_000006.12:g.159697035AC[25], NC_000006.12:g.159697035AC[26], NC_000006.12:g.159697035AC[27], NC_000006.12:g.159697035AC[28], NC_000006.12:g.159697035AC[29], NC_000006.12:g.159697035AC[30], NC_000006.12:g.159697035AC[31], NC_000006.12:g.159697035AC[32], NC_000006.12:g.159697035AC[33], NC_000006.12:g.159697035AC[34], NC_000006.11:g.160118067AC[7], NC_000006.11:g.160118067AC[9], NC_000006.11:g.160118067AC[10], NC_000006.11:g.160118067AC[11], NC_000006.11:g.160118067AC[12], NC_000006.11:g.160118067AC[13], NC_000006.11:g.160118067AC[14], NC_000006.11:g.160118067AC[15], NC_000006.11:g.160118067AC[16], NC_000006.11:g.160118067AC[17], NC_000006.11:g.160118067AC[18], NC_000006.11:g.160118067AC[19], NC_000006.11:g.160118067AC[20], NC_000006.11:g.160118067AC[21], NC_000006.11:g.160118067AC[22], NC_000006.11:g.160118067AC[24], NC_000006.11:g.160118067AC[25], NC_000006.11:g.160118067AC[26], NC_000006.11:g.160118067AC[27], NC_000006.11:g.160118067AC[28], NC_000006.11:g.160118067AC[29], NC_000006.11:g.160118067AC[30], NC_000006.11:g.160118067AC[31], NC_000006.11:g.160118067AC[32], NC_000006.11:g.160118067AC[33], NC_000006.11:g.160118067AC[34], NG_008729.3:g.70450GT[7], NG_008729.3:g.70450GT[9], NG_008729.3:g.70450GT[10], NG_008729.3:g.70450GT[11], NG_008729.3:g.70450GT[12], NG_008729.3:g.70450GT[13], NG_008729.3:g.70450GT[14], NG_008729.3:g.70450GT[15], NG_008729.3:g.70450GT[16], NG_008729.3:g.70450GT[17], NG_008729.3:g.70450GT[18], NG_008729.3:g.70450GT[19], NG_008729.3:g.70450GT[20], NG_008729.3:g.70450GT[21], NG_008729.3:g.70450GT[22], NG_008729.3:g.70450GT[24], NG_008729.3:g.70450GT[25], NG_008729.3:g.70450GT[26], NG_008729.3:g.70450GT[27], NG_008729.3:g.70450GT[28], NG_008729.3:g.70450GT[29], NG_008729.3:g.70450GT[30], NG_008729.3:g.70450GT[31], NG_008729.3:g.70450GT[32], NG_008729.3:g.70450GT[33], NG_008729.3:g.70450GT[34]

Select item 149115099820.

rs1491150998 has merged into rs35570449 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:159702861 (GRCh38)
6:160123893 (GRCh37)
Canonical SPDI:: NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:159702850:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SOD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.159702861_159702874del, NC_000006.12:g.159702862_159702874del, NC_000006.12:g.159702863_159702874del, NC_000006.12:g.159702865_159702874del, NC_000006.12:g.159702866_159702874del, NC_000006.12:g.159702867_159702874del, NC_000006.12:g.159702868_159702874del, NC_000006.12:g.159702869_159702874del, NC_000006.12:g.159702870_159702874del, NC_000006.12:g.159702871_159702874del, NC_000006.12:g.159702872_159702874del, NC_000006.12:g.159702873_159702874del, NC_000006.12:g.159702874del, NC_000006.12:g.159702874dup, NC_000006.12:g.159702873_159702874dup, NC_000006.12:g.159702872_159702874dup, NC_000006.12:g.159702871_159702874dup, NC_000006.12:g.159702870_159702874dup, NC_000006.12:g.159702869_159702874dup, NC_000006.12:g.159702868_159702874dup, NC_000006.12:g.159702865_159702874dup, NC_000006.12:g.159702863_159702874dup, NC_000006.11:g.160123893_160123906del, NC_000006.11:g.160123894_160123906del, NC_000006.11:g.160123895_160123906del, NC_000006.11:g.160123897_160123906del, NC_000006.11:g.160123898_160123906del, NC_000006.11:g.160123899_160123906del, NC_000006.11:g.160123900_160123906del, NC_000006.11:g.160123901_160123906del, NC_000006.11:g.160123902_160123906del, NC_000006.11:g.160123903_160123906del, NC_000006.11:g.160123904_160123906del, NC_000006.11:g.160123905_160123906del, NC_000006.11:g.160123906del, NC_000006.11:g.160123906dup, NC_000006.11:g.160123905_160123906dup, NC_000006.11:g.160123904_160123906dup, NC_000006.11:g.160123903_160123906dup, NC_000006.11:g.160123902_160123906dup, NC_000006.11:g.160123901_160123906dup, NC_000006.11:g.160123900_160123906dup, NC_000006.11:g.160123897_160123906dup, NC_000006.11:g.160123895_160123906dup, NG_008729.3:g.64666_64679del, NG_008729.3:g.64667_64679del, NG_008729.3:g.64668_64679del, NG_008729.3:g.64670_64679del, NG_008729.3:g.64671_64679del, NG_008729.3:g.64672_64679del, NG_008729.3:g.64673_64679del, NG_008729.3:g.64674_64679del, NG_008729.3:g.64675_64679del, NG_008729.3:g.64676_64679del, NG_008729.3:g.64677_64679del, NG_008729.3:g.64678_64679del, NG_008729.3:g.64679del, NG_008729.3:g.64679dup, NG_008729.3:g.64678_64679dup, NG_008729.3:g.64677_64679dup, NG_008729.3:g.64676_64679dup, NG_008729.3:g.64675_64679dup, NG_008729.3:g.64674_64679dup, NG_008729.3:g.64673_64679dup, NG_008729.3:g.64670_64679dup, NG_008729.3:g.64668_64679dup

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