Links from Gene
Items: 1 to 20 of 926
1.
rs1491283095 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 1:203729563
(GRCh38)
1:203698691
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203729561:AGA:A
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview), SNORA77 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000583/12
(
ALFA)
-=0.000066/9
(GnomAD)
- HGVS:
2.
rs1491159543 has merged into rs5780193 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:203729554
(GRCh38)
1:203698682
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203729544:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:203729544:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:203729544:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:203729544:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:203729544:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:203729544:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:203729544:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:203729544:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:203729544:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:203729544:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:203729544:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:203729544:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:203729544:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview), SNORA77 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.3361/1683
(1000Genomes)
A=0.425/17
(GENOME_DK)
- HGVS:
NC_000001.11:g.203729554_203729562del, NC_000001.11:g.203729556_203729562del, NC_000001.11:g.203729557_203729562del, NC_000001.11:g.203729558_203729562del, NC_000001.11:g.203729559_203729562del, NC_000001.11:g.203729560_203729562del, NC_000001.11:g.203729561_203729562del, NC_000001.11:g.203729562del, NC_000001.11:g.203729562dup, NC_000001.11:g.203729561_203729562dup, NC_000001.11:g.203729560_203729562dup, NC_000001.11:g.203729559_203729562dup, NC_000001.11:g.203729558_203729562dup, NC_000001.10:g.203698682_203698690del, NC_000001.10:g.203698684_203698690del, NC_000001.10:g.203698685_203698690del, NC_000001.10:g.203698686_203698690del, NC_000001.10:g.203698687_203698690del, NC_000001.10:g.203698688_203698690del, NC_000001.10:g.203698689_203698690del, NC_000001.10:g.203698690del, NC_000001.10:g.203698690dup, NC_000001.10:g.203698689_203698690dup, NC_000001.10:g.203698688_203698690dup, NC_000001.10:g.203698687_203698690dup, NC_000001.10:g.203698686_203698690dup, NG_029589.1:g.107768_107776del, NG_029589.1:g.107770_107776del, NG_029589.1:g.107771_107776del, NG_029589.1:g.107772_107776del, NG_029589.1:g.107773_107776del, NG_029589.1:g.107774_107776del, NG_029589.1:g.107775_107776del, NG_029589.1:g.107776del, NG_029589.1:g.107776dup, NG_029589.1:g.107775_107776dup, NG_029589.1:g.107774_107776dup, NG_029589.1:g.107773_107776dup, NG_029589.1:g.107772_107776dup
3.
rs1491046612 has merged into rs35528335 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:203731859
(GRCh38)
1:203700987
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:203731849:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000001.11:g.203731859_203731870del, NC_000001.11:g.203731861_203731870del, NC_000001.11:g.203731862_203731870del, NC_000001.11:g.203731863_203731870del, NC_000001.11:g.203731865_203731870del, NC_000001.11:g.203731866_203731870del, NC_000001.11:g.203731867_203731870del, NC_000001.11:g.203731868_203731870del, NC_000001.11:g.203731869_203731870del, NC_000001.11:g.203731870del, NC_000001.11:g.203731870dup, NC_000001.11:g.203731869_203731870dup, NC_000001.11:g.203731868_203731870dup, NC_000001.11:g.203731867_203731870dup, NC_000001.11:g.203731866_203731870dup, NC_000001.11:g.203731865_203731870dup, NC_000001.10:g.203700987_203700998del, NC_000001.10:g.203700989_203700998del, NC_000001.10:g.203700990_203700998del, NC_000001.10:g.203700991_203700998del, NC_000001.10:g.203700993_203700998del, NC_000001.10:g.203700994_203700998del, NC_000001.10:g.203700995_203700998del, NC_000001.10:g.203700996_203700998del, NC_000001.10:g.203700997_203700998del, NC_000001.10:g.203700998del, NC_000001.10:g.203700998dup, NC_000001.10:g.203700997_203700998dup, NC_000001.10:g.203700996_203700998dup, NC_000001.10:g.203700995_203700998dup, NC_000001.10:g.203700994_203700998dup, NC_000001.10:g.203700993_203700998dup, NG_029589.1:g.110073_110084del, NG_029589.1:g.110075_110084del, NG_029589.1:g.110076_110084del, NG_029589.1:g.110077_110084del, NG_029589.1:g.110079_110084del, NG_029589.1:g.110080_110084del, NG_029589.1:g.110081_110084del, NG_029589.1:g.110082_110084del, NG_029589.1:g.110083_110084del, NG_029589.1:g.110084del, NG_029589.1:g.110084dup, NG_029589.1:g.110083_110084dup, NG_029589.1:g.110082_110084dup, NG_029589.1:g.110081_110084dup, NG_029589.1:g.110080_110084dup, NG_029589.1:g.110079_110084dup, NM_032633.1:c.*904_*915del, NM_032633.1:c.*906_*915del, NM_032633.1:c.*907_*915del, NM_032633.1:c.*908_*915del, NM_032633.1:c.*910_*915del, NM_032633.1:c.*911_*915del, NM_032633.1:c.*912_*915del, NM_032633.1:c.*913_*915del, NM_032633.1:c.*914_*915del, NM_032633.1:c.*915del, NM_032633.1:c.*915dup, NM_032633.1:c.*914_*915dup, NM_032633.1:c.*913_*915dup, NM_032633.1:c.*912_*915dup, NM_032633.1:c.*911_*915dup, NM_032633.1:c.*910_*915dup
4.
rs1491020114 has merged into rs111392425 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:203730239
(GRCh38)
1:203699367
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203730230:AAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:203730230:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:203730230:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:203730230:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:203730230:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:203730230:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:203730230:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:203730230:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.075/3
(GENOME_DK)
-=0.17772/890
(1000Genomes)
- HGVS:
NC_000001.11:g.203730239_203730244del, NC_000001.11:g.203730242_203730244del, NC_000001.11:g.203730243_203730244del, NC_000001.11:g.203730244del, NC_000001.11:g.203730244dup, NC_000001.11:g.203730243_203730244dup, NC_000001.11:g.203730242_203730244dup, NC_000001.11:g.203730241_203730244dup, NC_000001.10:g.203699367_203699372del, NC_000001.10:g.203699370_203699372del, NC_000001.10:g.203699371_203699372del, NC_000001.10:g.203699372del, NC_000001.10:g.203699372dup, NC_000001.10:g.203699371_203699372dup, NC_000001.10:g.203699370_203699372dup, NC_000001.10:g.203699369_203699372dup, NG_029589.1:g.108453_108458del, NG_029589.1:g.108456_108458del, NG_029589.1:g.108457_108458del, NG_029589.1:g.108458del, NG_029589.1:g.108458dup, NG_029589.1:g.108457_108458dup, NG_029589.1:g.108456_108458dup, NG_029589.1:g.108455_108458dup
5.
rs1490863764 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAAA>-
[Show Flanks]
- Chromosome:
- 1:203729133
(GRCh38)
1:203698261
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203729127:AGAAAGAAA:AGAAA
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview), SNORA77 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAAA=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
6.
rs1490668200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:203730150
(GRCh38)
1:203699278
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203730149:A:G
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview), SNORA77 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
7.
rs1488277621 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:203732147
(GRCh38)
1:203701275
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203732146:G:A
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
- HGVS:
8.
rs1487943799 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 1:203732274
(GRCh38)
1:203701402
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203732273:C:
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
9.
rs1487829580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:203729529
(GRCh38)
1:203698657
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203729528:G:A
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview), SNORA77 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1487764865 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:203728620
(GRCh38)
1:203697748
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203728619:G:A
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview), SNORA77 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1487243324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:203729009
(GRCh38)
1:203698137
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203729008:T:A,NC_000001.11:203729008:T:C
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview), SNORA77 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1485696005 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:203730413
(GRCh38)
1:203699541
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203730412:C:G
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
15.
rs1484362262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:203728801
(GRCh38)
1:203697929
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203728800:G:A
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview), SNORA77 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1484054865 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:203731945
(GRCh38)
1:203701073
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203731944:A:G
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000169/2
(
ALFA)
G=0.000036/5
(GnomAD)
- HGVS:
17.
rs1483947054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:203731766
(GRCh38)
1:203700894
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203731765:C:T
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1481939134 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:203728875
(GRCh38)
1:203698003
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203728874:G:A
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview), SNORA77 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
19.
rs1481814135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:203730365
(GRCh38)
1:203699493
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203730364:C:T
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1479333102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:203730710
(GRCh38)
1:203699838
(GRCh37)
- Canonical SPDI:
- NC_000001.11:203730709:T:A
- Gene:
- ATP2B4 (Varview), LINC00260 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: