Links from Gene
Items: 1 to 20 of 1000
1.
rs1491377598 has merged into rs35916279 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:103914844
(GRCh38)
14:104381181
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103914837:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAA=0.1/4
(GENOME_DK)
- HGVS:
NC_000014.9:g.103914844_103914857del, NC_000014.9:g.103914845_103914857del, NC_000014.9:g.103914846_103914857del, NC_000014.9:g.103914847_103914857del, NC_000014.9:g.103914851_103914857del, NC_000014.9:g.103914853_103914857del, NC_000014.9:g.103914854_103914857del, NC_000014.9:g.103914855_103914857del, NC_000014.9:g.103914856_103914857del, NC_000014.9:g.103914857del, NC_000014.9:g.103914857dup, NC_000014.9:g.103914856_103914857dup, NC_000014.9:g.103914855_103914857dup, NC_000014.9:g.103914854_103914857dup, NC_000014.9:g.103914853_103914857dup, NC_000014.9:g.103914852_103914857dup, NC_000014.9:g.103914851_103914857dup, NC_000014.9:g.103914850_103914857dup, NC_000014.9:g.103914849_103914857dup, NC_000014.9:g.103914848_103914857dup, NC_000014.9:g.103914847_103914857dup, NC_000014.9:g.103914846_103914857dup, NC_000014.9:g.103914845_103914857dup, NC_000014.9:g.103914844_103914857dup, NC_000014.9:g.103914843_103914857dup, NC_000014.9:g.103914842_103914857dup, NC_000014.9:g.103914841_103914857dup, NC_000014.9:g.103914840_103914857dup, NC_000014.9:g.103914839_103914857dup, NC_000014.9:g.103914838_103914857dup, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.103914857_103914858insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381181_104381194del, NC_000014.8:g.104381182_104381194del, NC_000014.8:g.104381183_104381194del, NC_000014.8:g.104381184_104381194del, NC_000014.8:g.104381188_104381194del, NC_000014.8:g.104381190_104381194del, NC_000014.8:g.104381191_104381194del, NC_000014.8:g.104381192_104381194del, NC_000014.8:g.104381193_104381194del, NC_000014.8:g.104381194del, NC_000014.8:g.104381194dup, NC_000014.8:g.104381193_104381194dup, NC_000014.8:g.104381192_104381194dup, NC_000014.8:g.104381191_104381194dup, NC_000014.8:g.104381190_104381194dup, NC_000014.8:g.104381189_104381194dup, NC_000014.8:g.104381188_104381194dup, NC_000014.8:g.104381187_104381194dup, NC_000014.8:g.104381186_104381194dup, NC_000014.8:g.104381185_104381194dup, NC_000014.8:g.104381184_104381194dup, NC_000014.8:g.104381183_104381194dup, NC_000014.8:g.104381182_104381194dup, NC_000014.8:g.104381181_104381194dup, NC_000014.8:g.104381180_104381194dup, NC_000014.8:g.104381179_104381194dup, NC_000014.8:g.104381178_104381194dup, NC_000014.8:g.104381177_104381194dup, NC_000014.8:g.104381176_104381194dup, NC_000014.8:g.104381175_104381194dup, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.104381194_104381195insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491223212 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:103919835
(GRCh38)
14:104386172
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103919834:CT:
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491199222 has merged into rs1176277496 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:103922650
(GRCh38)
14:104388987
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000014.9:g.103922650_103922658del, NC_000014.9:g.103922651_103922658del, NC_000014.9:g.103922652_103922658del, NC_000014.9:g.103922653_103922658del, NC_000014.9:g.103922654_103922658del, NC_000014.9:g.103922655_103922658del, NC_000014.9:g.103922656_103922658del, NC_000014.9:g.103922657_103922658del, NC_000014.9:g.103922658del, NC_000014.9:g.103922658dup, NC_000014.9:g.103922657_103922658dup, NC_000014.9:g.103922656_103922658dup, NC_000014.9:g.103922655_103922658dup, NC_000014.9:g.103922654_103922658dup, NC_000014.9:g.103922653_103922658dup, NC_000014.9:g.103922652_103922658dup, NC_000014.9:g.103922651_103922658dup, NC_000014.9:g.103922650_103922658dup, NC_000014.9:g.103922649_103922658dup, NC_000014.9:g.103922648_103922658dup, NC_000014.9:g.103922644_103922658dup, NC_000014.9:g.103922642_103922658dup, NC_000014.8:g.104388987_104388995del, NC_000014.8:g.104388988_104388995del, NC_000014.8:g.104388989_104388995del, NC_000014.8:g.104388990_104388995del, NC_000014.8:g.104388991_104388995del, NC_000014.8:g.104388992_104388995del, NC_000014.8:g.104388993_104388995del, NC_000014.8:g.104388994_104388995del, NC_000014.8:g.104388995del, NC_000014.8:g.104388995dup, NC_000014.8:g.104388994_104388995dup, NC_000014.8:g.104388993_104388995dup, NC_000014.8:g.104388992_104388995dup, NC_000014.8:g.104388991_104388995dup, NC_000014.8:g.104388990_104388995dup, NC_000014.8:g.104388989_104388995dup, NC_000014.8:g.104388988_104388995dup, NC_000014.8:g.104388987_104388995dup, NC_000014.8:g.104388986_104388995dup, NC_000014.8:g.104388985_104388995dup, NC_000014.8:g.104388981_104388995dup, NC_000014.8:g.104388979_104388995dup
5.
rs1491132971 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGAAAA
[Show Flanks]
- Chromosome:
- 14:103914838
(GRCh38)
14:104381176
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103914838:AAAA:AAAAGGAAAA
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
AAAAGG=0.00011/3
(TOMMO)
AAAAGG=0.00019/17
(GnomAD)
- HGVS:
6.
rs1491114992 has merged into rs201352532 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:103922355
(GRCh38)
14:104388692
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103922347:TTTTTTTTTT:TTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.00673/4
(NorthernSweden)
- HGVS:
NC_000014.9:g.103922355_103922357del, NC_000014.9:g.103922356_103922357del, NC_000014.9:g.103922357del, NC_000014.9:g.103922357dup, NC_000014.9:g.103922356_103922357dup, NC_000014.9:g.103922355_103922357dup, NC_000014.9:g.103922354_103922357dup, NC_000014.9:g.103922353_103922357dup, NC_000014.9:g.103922352_103922357dup, NC_000014.9:g.103922349_103922357dup, NC_000014.8:g.104388692_104388694del, NC_000014.8:g.104388693_104388694del, NC_000014.8:g.104388694del, NC_000014.8:g.104388694dup, NC_000014.8:g.104388693_104388694dup, NC_000014.8:g.104388692_104388694dup, NC_000014.8:g.104388691_104388694dup, NC_000014.8:g.104388690_104388694dup, NC_000014.8:g.104388689_104388694dup, NC_000014.8:g.104388686_104388694dup
7.
rs1491077337 has merged into rs36094054 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 14:103918367
(GRCh38)
14:104384704
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103918359:TTTTTTTTTTT:TTTTTTT,NC_000014.9:103918359:TTTTTTTTTTT:TTTTTTTTT,NC_000014.9:103918359:TTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:103918359:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:103918359:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:103918359:TTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0.1/4
(GENOME_DK)
T=0.12979/650
(1000Genomes)
T=0.13155/241
(Korea1K)
T=0.15667/94
(NorthernSweden)
T=0.18715/3136
(TOMMO)
T=0.1984/198
(GoNL)
- HGVS:
NC_000014.9:g.103918367_103918370del, NC_000014.9:g.103918369_103918370del, NC_000014.9:g.103918370del, NC_000014.9:g.103918370dup, NC_000014.9:g.103918369_103918370dup, NC_000014.9:g.103918368_103918370dup, NC_000014.8:g.104384704_104384707del, NC_000014.8:g.104384706_104384707del, NC_000014.8:g.104384707del, NC_000014.8:g.104384707dup, NC_000014.8:g.104384706_104384707dup, NC_000014.8:g.104384705_104384707dup
8.
rs1491024685 has merged into rs57538744 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:103920476
(GRCh38)
14:104386813
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103920468:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.103920476_103920490del, NC_000014.9:g.103920479_103920490del, NC_000014.9:g.103920480_103920490del, NC_000014.9:g.103920482_103920490del, NC_000014.9:g.103920483_103920490del, NC_000014.9:g.103920484_103920490del, NC_000014.9:g.103920485_103920490del, NC_000014.9:g.103920486_103920490del, NC_000014.9:g.103920487_103920490del, NC_000014.9:g.103920488_103920490del, NC_000014.9:g.103920489_103920490del, NC_000014.9:g.103920490del, NC_000014.9:g.103920490dup, NC_000014.9:g.103920489_103920490dup, NC_000014.9:g.103920488_103920490dup, NC_000014.9:g.103920487_103920490dup, NC_000014.9:g.103920486_103920490dup, NC_000014.9:g.103920485_103920490dup, NC_000014.9:g.103920483_103920490dup, NC_000014.8:g.104386813_104386827del, NC_000014.8:g.104386816_104386827del, NC_000014.8:g.104386817_104386827del, NC_000014.8:g.104386819_104386827del, NC_000014.8:g.104386820_104386827del, NC_000014.8:g.104386821_104386827del, NC_000014.8:g.104386822_104386827del, NC_000014.8:g.104386823_104386827del, NC_000014.8:g.104386824_104386827del, NC_000014.8:g.104386825_104386827del, NC_000014.8:g.104386826_104386827del, NC_000014.8:g.104386827del, NC_000014.8:g.104386827dup, NC_000014.8:g.104386826_104386827dup, NC_000014.8:g.104386825_104386827dup, NC_000014.8:g.104386824_104386827dup, NC_000014.8:g.104386823_104386827dup, NC_000014.8:g.104386822_104386827dup, NC_000014.8:g.104386820_104386827dup
9.
rs1490977986 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 14:103923444
(GRCh38)
14:104389781
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103923443:A:G,NC_000014.9:103923443:A:T
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.000071/2
(TOMMO)
- HGVS:
11.
rs1490326605 has merged into rs1176277496 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:103922650
(GRCh38)
14:104388987
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:103922634:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000014.9:g.103922650_103922658del, NC_000014.9:g.103922651_103922658del, NC_000014.9:g.103922652_103922658del, NC_000014.9:g.103922653_103922658del, NC_000014.9:g.103922654_103922658del, NC_000014.9:g.103922655_103922658del, NC_000014.9:g.103922656_103922658del, NC_000014.9:g.103922657_103922658del, NC_000014.9:g.103922658del, NC_000014.9:g.103922658dup, NC_000014.9:g.103922657_103922658dup, NC_000014.9:g.103922656_103922658dup, NC_000014.9:g.103922655_103922658dup, NC_000014.9:g.103922654_103922658dup, NC_000014.9:g.103922653_103922658dup, NC_000014.9:g.103922652_103922658dup, NC_000014.9:g.103922651_103922658dup, NC_000014.9:g.103922650_103922658dup, NC_000014.9:g.103922649_103922658dup, NC_000014.9:g.103922648_103922658dup, NC_000014.9:g.103922644_103922658dup, NC_000014.9:g.103922642_103922658dup, NC_000014.8:g.104388987_104388995del, NC_000014.8:g.104388988_104388995del, NC_000014.8:g.104388989_104388995del, NC_000014.8:g.104388990_104388995del, NC_000014.8:g.104388991_104388995del, NC_000014.8:g.104388992_104388995del, NC_000014.8:g.104388993_104388995del, NC_000014.8:g.104388994_104388995del, NC_000014.8:g.104388995del, NC_000014.8:g.104388995dup, NC_000014.8:g.104388994_104388995dup, NC_000014.8:g.104388993_104388995dup, NC_000014.8:g.104388992_104388995dup, NC_000014.8:g.104388991_104388995dup, NC_000014.8:g.104388990_104388995dup, NC_000014.8:g.104388989_104388995dup, NC_000014.8:g.104388988_104388995dup, NC_000014.8:g.104388987_104388995dup, NC_000014.8:g.104388986_104388995dup, NC_000014.8:g.104388985_104388995dup, NC_000014.8:g.104388981_104388995dup, NC_000014.8:g.104388979_104388995dup
12.
rs1489907254 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:103913938
(GRCh38)
14:104380275
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103913937:A:G
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000012/3
(GnomAD_exomes)
- HGVS:
13.
rs1489739422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:103912229
(GRCh38)
14:104378566
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103912228:C:T
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.00003/8
(TOPMED)
- HGVS:
14.
rs1489287090 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:103921141
(GRCh38)
14:104387478
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103921140:C:T
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488008711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:103914268
(GRCh38)
14:104380605
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103914267:G:T
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1487270257 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:103914397
(GRCh38)
14:104380734
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103914396:A:C
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1486841411 has merged into rs201352532 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:103922355
(GRCh38)
14:104388692
(GRCh37)
- Canonical SPDI:
- NC_000014.9:103922347:TTTTTTTTTT:TTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:103922347:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- ATP5MJ (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.00673/4
(NorthernSweden)
- HGVS:
NC_000014.9:g.103922355_103922357del, NC_000014.9:g.103922356_103922357del, NC_000014.9:g.103922357del, NC_000014.9:g.103922357dup, NC_000014.9:g.103922356_103922357dup, NC_000014.9:g.103922355_103922357dup, NC_000014.9:g.103922354_103922357dup, NC_000014.9:g.103922353_103922357dup, NC_000014.9:g.103922352_103922357dup, NC_000014.9:g.103922349_103922357dup, NC_000014.8:g.104388692_104388694del, NC_000014.8:g.104388693_104388694del, NC_000014.8:g.104388694del, NC_000014.8:g.104388694dup, NC_000014.8:g.104388693_104388694dup, NC_000014.8:g.104388692_104388694dup, NC_000014.8:g.104388691_104388694dup, NC_000014.8:g.104388690_104388694dup, NC_000014.8:g.104388689_104388694dup, NC_000014.8:g.104388686_104388694dup