SNP Links for Nucleotide (Select 385719181) - SNP

Links from Nucleotide

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Select item 14914122421.

rs1491412242 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:94993624 (GRCh38)
12:95387400 (GRCh37)
Canonical SPDI:: NC_000012.12:94993623:CA:
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00036/5 (GnomAD)
HGVS:: NC_000012.12:g.94993624_94993625del, NC_000012.11:g.95387400_95387401del, NG_032672.1:g.15089_15090del

Select item 14913421002.

rs1491342100 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:95002437 (GRCh38)
12:95396213 (GRCh37)
Canonical SPDI:: NC_000012.12:95002436:CA:
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00008/1 (GnomAD)
HGVS:: NC_000012.12:g.95002437_95002438del, NC_000012.11:g.95396213_95396214del, NG_032672.1:g.6276_6277del

Select item 14912665603.

rs1491266560 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:94984750 (GRCh38)
12:95378526 (GRCh37)
Canonical SPDI:: NC_000012.12:94984749:AA:
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000012.12:g.94984750_94984751del, NC_000012.11:g.95378526_95378527del, NG_032672.1:g.23963_23964del

Select item 14912629164.

rs1491262916 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:94976038 (GRCh38)
12:95369814 (GRCh37)
Canonical SPDI:: NC_000012.12:94976037:AA:
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.94976038_94976039del, NC_000012.11:g.95369814_95369815del, NG_032672.1:g.32675_32676del

Select item 14912501105.

rs1491250110 has merged into rs55882937 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 12:95004152 (GRCh38)
12:95397928 (GRCh37)
Canonical SPDI:: NC_000012.12:95004143:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:95004143:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:95004143:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:95004143:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:95004143:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:95004143:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:95004143:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:95004143:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: NDUFA12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.375/3 (KOREAN)
HGVS:: NC_000012.12:g.95004152_95004159del, NC_000012.12:g.95004153_95004159del, NC_000012.12:g.95004157_95004159del, NC_000012.12:g.95004158_95004159del, NC_000012.12:g.95004159del, NC_000012.12:g.95004159dup, NC_000012.12:g.95004158_95004159dup, NC_000012.12:g.95004157_95004159dup, NC_000012.11:g.95397928_95397935del, NC_000012.11:g.95397929_95397935del, NC_000012.11:g.95397933_95397935del, NC_000012.11:g.95397934_95397935del, NC_000012.11:g.95397935del, NC_000012.11:g.95397935dup, NC_000012.11:g.95397934_95397935dup, NC_000012.11:g.95397933_95397935dup, NG_032672.1:g.4563_4570del, NG_032672.1:g.4564_4570del, NG_032672.1:g.4568_4570del, NG_032672.1:g.4569_4570del, NG_032672.1:g.4570del, NG_032672.1:g.4570dup, NG_032672.1:g.4569_4570dup, NG_032672.1:g.4568_4570dup

Select item 14912418486.

rs1491241848 has merged into rs61711763 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:94987800 (GRCh38)
12:95381576 (GRCh37)
Canonical SPDI:: NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94987791:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAA=0.025/1 (GENOME_DK)
-=0.206/794 (ALSPAC)
HGVS:: NC_000012.12:g.94987800_94987816del, NC_000012.12:g.94987803_94987816del, NC_000012.12:g.94987804_94987816del, NC_000012.12:g.94987805_94987816del, NC_000012.12:g.94987806_94987816del, NC_000012.12:g.94987808_94987816del, NC_000012.12:g.94987809_94987816del, NC_000012.12:g.94987810_94987816del, NC_000012.12:g.94987811_94987816del, NC_000012.12:g.94987812_94987816del, NC_000012.12:g.94987813_94987816del, NC_000012.12:g.94987814_94987816del, NC_000012.12:g.94987815_94987816del, NC_000012.12:g.94987816del, NC_000012.12:g.94987816dup, NC_000012.12:g.94987815_94987816dup, NC_000012.12:g.94987814_94987816dup, NC_000012.12:g.94987813_94987816dup, NC_000012.12:g.94987812_94987816dup, NC_000012.12:g.94987805_94987816dup, NC_000012.12:g.94987816_94987817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.94987816_94987817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.94987816_94987817insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.95381576_95381592del, NC_000012.11:g.95381579_95381592del, NC_000012.11:g.95381580_95381592del, NC_000012.11:g.95381581_95381592del, NC_000012.11:g.95381582_95381592del, NC_000012.11:g.95381584_95381592del, NC_000012.11:g.95381585_95381592del, NC_000012.11:g.95381586_95381592del, NC_000012.11:g.95381587_95381592del, NC_000012.11:g.95381588_95381592del, NC_000012.11:g.95381589_95381592del, NC_000012.11:g.95381590_95381592del, NC_000012.11:g.95381591_95381592del, NC_000012.11:g.95381592del, NC_000012.11:g.95381592dup, NC_000012.11:g.95381591_95381592dup, NC_000012.11:g.95381590_95381592dup, NC_000012.11:g.95381589_95381592dup, NC_000012.11:g.95381588_95381592dup, NC_000012.11:g.95381581_95381592dup, NC_000012.11:g.95381592_95381593insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.95381592_95381593insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.95381592_95381593insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032672.1:g.20906_20922del, NG_032672.1:g.20909_20922del, NG_032672.1:g.20910_20922del, NG_032672.1:g.20911_20922del, NG_032672.1:g.20912_20922del, NG_032672.1:g.20914_20922del, NG_032672.1:g.20915_20922del, NG_032672.1:g.20916_20922del, NG_032672.1:g.20917_20922del, NG_032672.1:g.20918_20922del, NG_032672.1:g.20919_20922del, NG_032672.1:g.20920_20922del, NG_032672.1:g.20921_20922del, NG_032672.1:g.20922del, NG_032672.1:g.20922dup, NG_032672.1:g.20921_20922dup, NG_032672.1:g.20920_20922dup, NG_032672.1:g.20919_20922dup, NG_032672.1:g.20918_20922dup, NG_032672.1:g.20911_20922dup, NG_032672.1:g.20922_20923insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032672.1:g.20922_20923insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032672.1:g.20922_20923insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912323677.

rs1491232367 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:94987791 (GRCh38)
12:95381567 (GRCh37)
Canonical SPDI:: NC_000012.12:94987790:CA:
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000012.12:g.94987791_94987792del, NC_000012.11:g.95381567_95381568del, NG_032672.1:g.20922_20923del

Select item 14912080648.

rs1491208064 has merged into rs112243139 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 12:95007029 (GRCh38)
12:95400805 (GRCh37)
Canonical SPDI:: NC_000012.12:95007018:TTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:95007018:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:95007018:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:95007018:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:95007018:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.159194/42137 (TOPMED)
-=0.18151/909 (1000Genomes)
-=0.188963/113 (NorthernSweden)
-=0.197681/733 (TWINSUK)
-=0.202647/781 (ALSPAC)
-=0.225/9 (GENOME_DK)
-=0.228457/228 (GoNL)
HGVS:: NC_000012.12:g.95007029_95007030del, NC_000012.12:g.95007030del, NC_000012.12:g.95007030dup, NC_000012.12:g.95007029_95007030dup, NC_000012.12:g.95007022_95007030dup, NC_000012.11:g.95400805_95400806del, NC_000012.11:g.95400806del, NC_000012.11:g.95400806dup, NC_000012.11:g.95400805_95400806dup, NC_000012.11:g.95400798_95400806dup, NG_032672.1:g.1694_1695del, NG_032672.1:g.1695del, NG_032672.1:g.1695dup, NG_032672.1:g.1694_1695dup, NG_032672.1:g.1687_1695dup

Select item 14911903049.

rs1491190304 has merged into rs57582405 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAAATAAATAA>-,ATAA,ATAAATAA,ATAAATAAATAAATAA,ATAAATAAATAAATAAATAA,ATAAATAAATAAATAAATAAATAA,ATAAATAAATAAATAAATAAATAAATAA [Show Flanks]
Chromosome:: 12:94986105 (GRCh38)
12:95379881 (GRCh37)
Canonical SPDI:: NC_000012.12:94986085:TAAATAAATAAATAAATAAATAAATAAATAA:TAAATAAATAAATAAATAA,NC_000012.12:94986085:TAAATAAATAAATAAATAAATAAATAAATAA:TAAATAAATAAATAAATAAATAA,NC_000012.12:94986085:TAAATAAATAAATAAATAAATAAATAAATAA:TAAATAAATAAATAAATAAATAAATAA,NC_000012.12:94986085:TAAATAAATAAATAAATAAATAAATAAATAA:TAAATAAATAAATAAATAAATAAATAAATAAATAA,NC_000012.12:94986085:TAAATAAATAAATAAATAAATAAATAAATAA:TAAATAAATAAATAAATAAATAAATAAATAAATAAATAA,NC_000012.12:94986085:TAAATAAATAAATAAATAAATAAATAAATAA:TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA,NC_000012.12:94986085:TAAATAAATAAATAAATAAATAAATAAATAA:TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.94986089ATAA[4], NC_000012.12:g.94986089ATAA[5], NC_000012.12:g.94986089ATAA[6], NC_000012.12:g.94986089ATAA[8], NC_000012.12:g.94986089ATAA[9], NC_000012.12:g.94986089ATAA[10], NC_000012.12:g.94986089ATAA[11], NC_000012.11:g.95379865ATAA[4], NC_000012.11:g.95379865ATAA[5], NC_000012.11:g.95379865ATAA[6], NC_000012.11:g.95379865ATAA[8], NC_000012.11:g.95379865ATAA[9], NC_000012.11:g.95379865ATAA[10], NC_000012.11:g.95379865ATAA[11], NG_032672.1:g.22601TTTA[4], NG_032672.1:g.22601TTTA[5], NG_032672.1:g.22601TTTA[6], NG_032672.1:g.22601TTTA[8], NG_032672.1:g.22601TTTA[9], NG_032672.1:g.22601TTTA[10], NG_032672.1:g.22601TTTA[11]

Select item 149118488210.

rs1491184882 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 12:94984761 (GRCh38)
12:95378537 (GRCh37)
Canonical SPDI:: NC_000012.12:94984750:ATATATATATAT:ATATATATAT,NC_000012.12:94984750:ATATATATATAT:ATATATATATATAT
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000012.12:g.94984751AT[5], NC_000012.12:g.94984751AT[7], NC_000012.11:g.95378527AT[5], NC_000012.11:g.95378527AT[7], NG_032672.1:g.23952AT[5], NG_032672.1:g.23952AT[7]

Select item 149111283611.

rs1491112836 has merged into rs61481976 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:94993635 (GRCh38)
12:95387411 (GRCh37)
Canonical SPDI:: NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:94993624:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000012.12:g.94993635_94993653del, NC_000012.12:g.94993636_94993653del, NC_000012.12:g.94993637_94993653del, NC_000012.12:g.94993638_94993653del, NC_000012.12:g.94993639_94993653del, NC_000012.12:g.94993640_94993653del, NC_000012.12:g.94993641_94993653del, NC_000012.12:g.94993642_94993653del, NC_000012.12:g.94993643_94993653del, NC_000012.12:g.94993644_94993653del, NC_000012.12:g.94993645_94993653del, NC_000012.12:g.94993646_94993653del, NC_000012.12:g.94993647_94993653del, NC_000012.12:g.94993648_94993653del, NC_000012.12:g.94993649_94993653del, NC_000012.12:g.94993650_94993653del, NC_000012.12:g.94993651_94993653del, NC_000012.12:g.94993652_94993653del, NC_000012.12:g.94993653del, NC_000012.12:g.94993653dup, NC_000012.12:g.94993652_94993653dup, NC_000012.12:g.94993651_94993653dup, NC_000012.12:g.94993650_94993653dup, NC_000012.12:g.94993649_94993653dup, NC_000012.12:g.94993648_94993653dup, NC_000012.12:g.94993647_94993653dup, NC_000012.12:g.94993646_94993653dup, NC_000012.12:g.94993645_94993653dup, NC_000012.12:g.94993644_94993653dup, NC_000012.12:g.94993643_94993653dup, NC_000012.12:g.94993641_94993653dup, NC_000012.12:g.94993637_94993653dup, NC_000012.12:g.94993636_94993653dup, NC_000012.12:g.94993634_94993653dup, NC_000012.12:g.94993633_94993653dup, NC_000012.11:g.95387411_95387429del, NC_000012.11:g.95387412_95387429del, NC_000012.11:g.95387413_95387429del, NC_000012.11:g.95387414_95387429del, NC_000012.11:g.95387415_95387429del, NC_000012.11:g.95387416_95387429del, NC_000012.11:g.95387417_95387429del, NC_000012.11:g.95387418_95387429del, NC_000012.11:g.95387419_95387429del, NC_000012.11:g.95387420_95387429del, NC_000012.11:g.95387421_95387429del, NC_000012.11:g.95387422_95387429del, NC_000012.11:g.95387423_95387429del, NC_000012.11:g.95387424_95387429del, NC_000012.11:g.95387425_95387429del, NC_000012.11:g.95387426_95387429del, NC_000012.11:g.95387427_95387429del, NC_000012.11:g.95387428_95387429del, NC_000012.11:g.95387429del, NC_000012.11:g.95387429dup, NC_000012.11:g.95387428_95387429dup, NC_000012.11:g.95387427_95387429dup, NC_000012.11:g.95387426_95387429dup, NC_000012.11:g.95387425_95387429dup, NC_000012.11:g.95387424_95387429dup, NC_000012.11:g.95387423_95387429dup, NC_000012.11:g.95387422_95387429dup, NC_000012.11:g.95387421_95387429dup, NC_000012.11:g.95387420_95387429dup, NC_000012.11:g.95387419_95387429dup, NC_000012.11:g.95387417_95387429dup, NC_000012.11:g.95387413_95387429dup, NC_000012.11:g.95387412_95387429dup, NC_000012.11:g.95387410_95387429dup, NC_000012.11:g.95387409_95387429dup, NG_032672.1:g.15071_15089del, NG_032672.1:g.15072_15089del, NG_032672.1:g.15073_15089del, NG_032672.1:g.15074_15089del, NG_032672.1:g.15075_15089del, NG_032672.1:g.15076_15089del, NG_032672.1:g.15077_15089del, NG_032672.1:g.15078_15089del, NG_032672.1:g.15079_15089del, NG_032672.1:g.15080_15089del, NG_032672.1:g.15081_15089del, NG_032672.1:g.15082_15089del, NG_032672.1:g.15083_15089del, NG_032672.1:g.15084_15089del, NG_032672.1:g.15085_15089del, NG_032672.1:g.15086_15089del, NG_032672.1:g.15087_15089del, NG_032672.1:g.15088_15089del, NG_032672.1:g.15089del, NG_032672.1:g.15089dup, NG_032672.1:g.15088_15089dup, NG_032672.1:g.15087_15089dup, NG_032672.1:g.15086_15089dup, NG_032672.1:g.15085_15089dup, NG_032672.1:g.15084_15089dup, NG_032672.1:g.15083_15089dup, NG_032672.1:g.15082_15089dup, NG_032672.1:g.15081_15089dup, NG_032672.1:g.15080_15089dup, NG_032672.1:g.15079_15089dup, NG_032672.1:g.15077_15089dup, NG_032672.1:g.15073_15089dup, NG_032672.1:g.15072_15089dup, NG_032672.1:g.15070_15089dup, NG_032672.1:g.15069_15089dup

Select item 149104531012.

rs1491045310 has merged into rs34412426 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 12:94979677 (GRCh38)
12:95373453 (GRCh37)
Canonical SPDI:: NC_000012.12:94979667:AAAAAAAAAAA:AAAAAAAAA,NC_000012.12:94979667:AAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:94979667:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:94979667:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:94979667:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2715/1257 (1000Genomes)
HGVS:: NC_000012.12:g.94979677_94979678del, NC_000012.12:g.94979678del, NC_000012.12:g.94979678dup, NC_000012.12:g.94979677_94979678dup, NC_000012.12:g.94979676_94979678dup, NC_000012.11:g.95373453_95373454del, NC_000012.11:g.95373454del, NC_000012.11:g.95373454dup, NC_000012.11:g.95373453_95373454dup, NC_000012.11:g.95373452_95373454dup, NG_032672.1:g.29045_29046del, NG_032672.1:g.29046del, NG_032672.1:g.29046dup, NG_032672.1:g.29045_29046dup, NG_032672.1:g.29044_29046dup

Select item 149103382413.

rs1491033824 has merged into rs67946703 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 12:94990282 (GRCh38)
12:95384058 (GRCh37)
Canonical SPDI:: NC_000012.12:94990271:AAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:94990271:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:94990271:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:94990271:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:94990271:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4073/2040 (1000Genomes)
HGVS:: NC_000012.12:g.94990282_94990283del, NC_000012.12:g.94990283del, NC_000012.12:g.94990283dup, NC_000012.12:g.94990282_94990283dup, NC_000012.12:g.94990277_94990283dup, NC_000012.11:g.95384058_95384059del, NC_000012.11:g.95384059del, NC_000012.11:g.95384059dup, NC_000012.11:g.95384058_95384059dup, NC_000012.11:g.95384053_95384059dup, NG_032672.1:g.18441_18442del, NG_032672.1:g.18442del, NG_032672.1:g.18442dup, NG_032672.1:g.18441_18442dup, NG_032672.1:g.18436_18442dup

Select item 149102751614.

rs1491027516 has merged into rs112667532 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:95004707 (GRCh38)
12:95398483 (GRCh37)
Canonical SPDI:: NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95004695:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NDUFA12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
T=0.221446/1109 (1000Genomes)
HGVS:: NC_000012.12:g.95004707_95004712del, NC_000012.12:g.95004708_95004712del, NC_000012.12:g.95004709_95004712del, NC_000012.12:g.95004710_95004712del, NC_000012.12:g.95004711_95004712del, NC_000012.12:g.95004712del, NC_000012.12:g.95004712dup, NC_000012.12:g.95004711_95004712dup, NC_000012.12:g.95004710_95004712dup, NC_000012.12:g.95004708_95004712dup, NC_000012.12:g.95004707_95004712dup, NC_000012.12:g.95004705_95004712dup, NC_000012.12:g.95004703_95004712dup, NC_000012.12:g.95004702_95004712dup, NC_000012.12:g.95004701_95004712dup, NC_000012.11:g.95398483_95398488del, NC_000012.11:g.95398484_95398488del, NC_000012.11:g.95398485_95398488del, NC_000012.11:g.95398486_95398488del, NC_000012.11:g.95398487_95398488del, NC_000012.11:g.95398488del, NC_000012.11:g.95398488dup, NC_000012.11:g.95398487_95398488dup, NC_000012.11:g.95398486_95398488dup, NC_000012.11:g.95398484_95398488dup, NC_000012.11:g.95398483_95398488dup, NC_000012.11:g.95398481_95398488dup, NC_000012.11:g.95398479_95398488dup, NC_000012.11:g.95398478_95398488dup, NC_000012.11:g.95398477_95398488dup, NG_032672.1:g.4013_4018del, NG_032672.1:g.4014_4018del, NG_032672.1:g.4015_4018del, NG_032672.1:g.4016_4018del, NG_032672.1:g.4017_4018del, NG_032672.1:g.4018del, NG_032672.1:g.4018dup, NG_032672.1:g.4017_4018dup, NG_032672.1:g.4016_4018dup, NG_032672.1:g.4014_4018dup, NG_032672.1:g.4013_4018dup, NG_032672.1:g.4011_4018dup, NG_032672.1:g.4009_4018dup, NG_032672.1:g.4008_4018dup, NG_032672.1:g.4007_4018dup

Select item 149101875015.

rs1491018750 has merged into rs10654978 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 12:94996833 (GRCh38)
12:95390609 (GRCh37)
Canonical SPDI:: NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:94996819:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.94996833_94996835del, NC_000012.12:g.94996834_94996835del, NC_000012.12:g.94996835del, NC_000012.12:g.94996835dup, NC_000012.12:g.94996834_94996835dup, NC_000012.12:g.94996833_94996835dup, NC_000012.12:g.94996832_94996835dup, NC_000012.11:g.95390609_95390611del, NC_000012.11:g.95390610_95390611del, NC_000012.11:g.95390611del, NC_000012.11:g.95390611dup, NC_000012.11:g.95390610_95390611dup, NC_000012.11:g.95390609_95390611dup, NC_000012.11:g.95390608_95390611dup, NG_032672.1:g.11892_11894del, NG_032672.1:g.11893_11894del, NG_032672.1:g.11894del, NG_032672.1:g.11894dup, NG_032672.1:g.11893_11894dup, NG_032672.1:g.11892_11894dup, NG_032672.1:g.11891_11894dup

Select item 149099231016.

rs1490992310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:94972544 (GRCh38)
12:95366320 (GRCh37)
Canonical SPDI:: NC_000012.12:94972543:G:A
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_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_000012.12:g.94972544G>A, NC_000012.11:g.95366320G>A, NG_032672.1:g.36170C>T

Select item 149091171017.

rs1490911710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:94996723 (GRCh38)
12:95390499 (GRCh37)
Canonical SPDI:: NC_000012.12:94996722:G:A,NC_000012.12:94996722:G:T
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.94996723G>A, NC_000012.12:g.94996723G>T, NC_000012.11:g.95390499G>A, NC_000012.11:g.95390499G>T, NG_032672.1:g.11991C>T, NG_032672.1:g.11991C>A

Select item 149080112118.

rs1490801121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:94981988 (GRCh38)
12:95375764 (GRCh37)
Canonical SPDI:: NC_000012.12:94981987:C:A
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.94981988C>A, NC_000012.11:g.95375764C>A, NG_032672.1:g.26726G>T

Select item 149066296619.

rs1490662966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:94980443 (GRCh38)
12:95374219 (GRCh37)
Canonical SPDI:: NC_000012.12:94980442:T:G
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.94980443T>G, NC_000012.11:g.95374219T>G, NG_032672.1:g.28271A>C

Select item 149054009020.

rs1490540090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:94981370 (GRCh38)
12:95375146 (GRCh37)
Canonical SPDI:: NC_000012.12:94981369:C:G
Gene:: NDUFA12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.94981370C>G, NC_000012.11:g.95375146C>G, NG_032672.1:g.27344G>C

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