Links from Gene
Items: 1 to 20 of 9578
1.
rs1491348622 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 6:53068638
(GRCh38)
6:52933437
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53068638:T:TGT
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0./0
(
ALFA)
TG=0.000004/1
(TOPMED)
TG=0.000071/1
(GnomAD)
- HGVS:
2.
rs1491319203 has merged into rs10667878 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT
[Show Flanks]
- Chromosome:
- 6:53068648
(GRCh38)
6:52933446
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53068637:ATATATATATATAT:ATATATATAT,NC_000006.12:53068637:ATATATATATATAT:ATATATATATAT,NC_000006.12:53068637:ATATATATATATAT:ATATATATATATATAT,NC_000006.12:53068637:ATATATATATATAT:ATATATATATATATATAT,NC_000006.12:53068637:ATATATATATATAT:ATATATATATATATATATAT,NC_000006.12:53068637:ATATATATATATAT:ATATATATATATATATATATAT
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATATAT=0./0
(
ALFA)
-=0.1409/603
(Estonian)
-=0.1881/942
(1000Genomes)
-=0.35/14
(GENOME_DK)
- HGVS:
NC_000006.12:g.53068638AT[5], NC_000006.12:g.53068638AT[6], NC_000006.12:g.53068638AT[8], NC_000006.12:g.53068638AT[9], NC_000006.12:g.53068638AT[10], NC_000006.12:g.53068638AT[11], NC_000006.11:g.52933436AT[5], NC_000006.11:g.52933436AT[6], NC_000006.11:g.52933436AT[8], NC_000006.11:g.52933436AT[9], NC_000006.11:g.52933436AT[10], NC_000006.11:g.52933436AT[11]
4.
rs1491067654 has merged into rs1554184080 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 6:53068098
(GRCh38)
6:52932896
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53068097:CT:
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000253/3
(
ALFA)
-=0.000162/43
(TOPMED)
-=0.000321/14
(GnomAD)
-=0.002513/32
(TOMMO)
-=0.003109/5
(Korea1K)
- HGVS:
5.
rs1490967529 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:53074362
(GRCh38)
6:52939160
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53074361:G:C
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490750942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:53091560
(GRCh38)
6:52956358
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53091559:G:A
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490638697 has merged into rs1186449811 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AAA
[Show Flanks]
- Chromosome:
- 6:53100186
(GRCh38)
6:52964984
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53100182:AAAAAAA:AAA,NC_000006.12:53100182:AAAAAAA:AAAAAA
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
NC_000006.12:g.53100186_53100189del, NC_000006.12:g.53100189del, NC_000006.11:g.52964984_52964987del, NC_000006.11:g.52964987del, XM_005248996.5:c.*2356_*2359del, XM_005248996.5:c.*2359del, XM_005248995.5:c.*2356_*2359del, XM_005248995.5:c.*2359del, NM_012347.4:c.*2356_*2359del, NM_012347.4:c.*2359del, NM_033480.3:c.*2356_*2359del, NM_033480.3:c.*2359del, NM_033480.2:c.*2356_*2359del, NM_033480.2:c.*2359del, NM_033481.3:c.*2356_*2359del, NM_033481.3:c.*2359del, XM_047418629.1:c.*2356_*2359del, XM_047418629.1:c.*2359del
9.
rs1490608181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:53101296
(GRCh38)
6:52966094
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53101295:G:C
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490593150 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:53089694
(GRCh38)
6:52954492
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53089693:C:G
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
11.
rs1490535276 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:53084488
(GRCh38)
6:52949286
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53084487:G:A
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490467261 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 6:53075746
(GRCh38)
6:52940545
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53075746::A
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000009/1
(GnomAD)
- HGVS:
13.
rs1490455101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:53069432
(GRCh38)
6:52934230
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53069431:A:G
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490450378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:53060689
(GRCh38)
6:52925487
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53060688:C:A
- Gene:
- CILK1 (Varview), FBXO9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1490372901 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:53059593
(GRCh38)
6:52924391
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53059592:G:T
- Gene:
- CILK1 (Varview), FBXO9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490249641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:53066182
(GRCh38)
6:52930980
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53066181:G:T
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- genic_upstream_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:
17.
rs1490171818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:53074922
(GRCh38)
6:52939720
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53074921:G:A
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490123650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:53075004
(GRCh38)
6:52939802
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53075003:T:C
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490110159 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 6:53091218
(GRCh38)
6:52956016
(GRCh37)
- Canonical SPDI:
- NC_000006.12:53091217:G:A,NC_000006.12:53091217:G:C
- Gene:
- FBXO9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS: