Links from Gene
Items: 1 to 20 of 6469
1.
rs1491494626 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 22:32494128
(GRCh38)
22:32890115
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32494126:AGA:A
- Gene:
- FBXO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000094/13
(GnomAD)
- HGVS:
3.
rs1491403653 has merged into rs5845002 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 22:32479407
(GRCh38)
22:32875394
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FBXO7 (Varview)
- Functional Consequence:
- intron_variant
- Clinical significance:
- benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000022.11:g.32479407_32479416del, NC_000022.11:g.32479412_32479416del, NC_000022.11:g.32479413_32479416del, NC_000022.11:g.32479414_32479416del, NC_000022.11:g.32479415_32479416del, NC_000022.11:g.32479416del, NC_000022.11:g.32479416dup, NC_000022.11:g.32479415_32479416dup, NC_000022.11:g.32479408_32479416dup, NC_000022.11:g.32479405_32479416dup, NC_000022.11:g.32479416_32479417insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.32875394_32875403del, NC_000022.10:g.32875399_32875403del, NC_000022.10:g.32875400_32875403del, NC_000022.10:g.32875401_32875403del, NC_000022.10:g.32875402_32875403del, NC_000022.10:g.32875403del, NC_000022.10:g.32875403dup, NC_000022.10:g.32875402_32875403dup, NC_000022.10:g.32875395_32875403dup, NC_000022.10:g.32875392_32875403dup, NC_000022.10:g.32875403_32875404insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016001.2:g.9688_9697del, NG_016001.2:g.9693_9697del, NG_016001.2:g.9694_9697del, NG_016001.2:g.9695_9697del, NG_016001.2:g.9696_9697del, NG_016001.2:g.9697del, NG_016001.2:g.9697dup, NG_016001.2:g.9696_9697dup, NG_016001.2:g.9689_9697dup, NG_016001.2:g.9686_9697dup, NG_016001.2:g.9697_9698insTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491398802 has merged into rs913129167 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 22:32498964
(GRCh38)
22:32894951
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32498962:TGT:T
- Gene:
- FBXO7 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000498/7
(
ALFA)
-=0.000514/136
(TOPMED)
-=0.00099/82
(GnomAD)
- HGVS:
5.
rs1491163564 has merged into rs369465802 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGG>-,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG
[Show Flanks]
- Chromosome:
- 22:32474326
(GRCh38)
22:32870313
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGG
- Gene:
- FBXO7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGG=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
NC_000022.11:g.32474326_32474329del, NC_000022.11:g.32474328_32474329del, NC_000022.11:g.32474329del, NC_000022.11:g.32474329dup, NC_000022.11:g.32474328_32474329dup, NC_000022.11:g.32474327_32474329dup, NC_000022.11:g.32474326_32474329dup, NC_000022.11:g.32474325_32474329dup, NC_000022.11:g.32474324_32474329dup, NC_000022.11:g.32474323_32474329dup, NC_000022.10:g.32870313_32870316del, NC_000022.10:g.32870315_32870316del, NC_000022.10:g.32870316del, NC_000022.10:g.32870316dup, NC_000022.10:g.32870315_32870316dup, NC_000022.10:g.32870314_32870316dup, NC_000022.10:g.32870313_32870316dup, NC_000022.10:g.32870312_32870316dup, NC_000022.10:g.32870311_32870316dup, NC_000022.10:g.32870310_32870316dup, NG_016001.2:g.4607_4610del, NG_016001.2:g.4609_4610del, NG_016001.2:g.4610del, NG_016001.2:g.4610dup, NG_016001.2:g.4609_4610dup, NG_016001.2:g.4608_4610dup, NG_016001.2:g.4607_4610dup, NG_016001.2:g.4606_4610dup, NG_016001.2:g.4605_4610dup, NG_016001.2:g.4604_4610dup
7.
rs1491066580 has merged into rs145778211 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA,TATATA
[Show Flanks]
- Chromosome:
- 22:32491626
(GRCh38)
22:32887613
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32491620:ATATATA:ATATA,NC_000022.11:32491620:ATATATA:ATATATATA,NC_000022.11:32491620:ATATATA:ATATATATATA
- Gene:
- FBXO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATA=0./0
(
ALFA)
AT=0.00039/7
(TOMMO)
AT=0.03705/733
(GnomAD)
-=0.36062/1806
(1000Genomes)
- HGVS:
8.
rs1490914922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:32491449
(GRCh38)
22:32887436
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32491448:G:C
- Gene:
- FBXO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
10.
rs1490324419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:32487507
(GRCh38)
22:32883494
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32487506:T:C
- Gene:
- FBXO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490289946 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGA
[Show Flanks]
- Chromosome:
- 22:32472803
(GRCh38)
22:32868791
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32472803:A:ACGA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACGA=0.001939/23
(
ALFA)
ACG=0.001993/277
(GnomAD)
- HGVS:
13.
rs1490250603 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:32496738
(GRCh38)
22:32892725
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32496737:C:T
- Gene:
- FBXO7 (Varview)
- Functional Consequence:
- 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:
14.
rs1490223014 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTT>-
[Show Flanks]
- Chromosome:
- 22:32488544
(GRCh38)
22:32884531
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32488539:TCTTCTT:TCTT
- Gene:
- FBXO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
15.
rs1490064755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 22:32480471
(GRCh38)
22:32876458
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32480470:C:A,NC_000022.11:32480470:C:T
- Gene:
- FBXO7 (Varview)
- Functional Consequence:
- 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:
16.
rs1490027295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 22:32488223
(GRCh38)
22:32884210
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32488222:A:C,NC_000022.11:32488222:A:G
- Gene:
- FBXO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489902846 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:32480023
(GRCh38)
22:32876010
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32480022:C:T
- Gene:
- FBXO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000053/14
(TOPMED)
T=0.000086/12
(GnomAD)
- HGVS:
18.
rs1489130987 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:32481964
(GRCh38)
22:32877951
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32481963:T:C
- Gene:
- FBXO7 (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)
C=0.000342/1
(KOREAN)
- HGVS:
19.
rs1489103640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 22:32473471
(GRCh38)
22:32869458
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32473470:A:G,NC_000022.11:32473470:A:T
- Gene:
- FBXO7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
G=0.000106/2
(TOMMO)
- HGVS:
20.
rs1489072509 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:32476085
(GRCh38)
22:32872072
(GRCh37)
- Canonical SPDI:
- NC_000022.11:32476084:G:A,NC_000022.11:32476084:G:C
- Gene:
- FBXO7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
G=0.5/1
(SGDP_PRJ)
- HGVS: