Links from Gene
Items: 1 to 20 of 1794
1.
rs1490765705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:111874722
(GRCh38)
11:111745446
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111874721:C:T
- Gene:
- FDXACB1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/2
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS:
2.
rs1490593408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:111873685
(GRCh38)
11:111744409
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111873684:C:G
- Gene:
- FDXACB1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490390330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:111881256
(GRCh38)
11:111751980
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111881255:C:T
- Gene:
- C11orf1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
4.
rs1489723801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:111880713
(GRCh38)
11:111751437
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111880712:A:G
- Gene:
- C11orf1 (Varview), FDXACB1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489672976 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:111879819
(GRCh38)
11:111750543
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111879818:C:G
- Gene:
- C11orf1 (Varview), FDXACB1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.00003/8
(TOPMED)
- HGVS:
6.
rs1489458854 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:111875809
(GRCh38)
11:111746533
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111875808:C:G,NC_000011.10:111875808:C:T
- Gene:
- FDXACB1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.111875809C>G, NC_000011.10:g.111875809C>T, NC_000011.9:g.111746533C>G, NC_000011.9:g.111746533C>T, NG_009210.2:g.772G>C, NG_009210.2:g.772G>A, NG_009210.1:g.773G>C, NG_009210.1:g.773G>A, NG_029081.1:g.8649G>C, NG_029081.1:g.8649G>A, NM_138378.3:c.988G>C, NM_138378.3:c.988G>A, NM_138378.2:c.988G>C, NM_138378.2:c.988G>A, NR_038364.2:n.864G>C, NR_038364.2:n.864G>A, NR_038364.1:n.1156G>C, NR_038364.1:n.1156G>A, NW_003871080.1:g.127800C>G, NW_003871080.1:g.127800C>T, NP_612387.1:p.Asp330His, NP_612387.1:p.Asp330Asn
7.
rs1487855162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:111881167
(GRCh38)
11:111751891
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111881166:T:C,NC_000011.10:111881166:T:G
- Gene:
- C11orf1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1487169399 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:111873816
(GRCh38)
11:111744540
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111873815:A:G
- Gene:
- FDXACB1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1486312989 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:111878473
(GRCh38)
11:111749197
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111878472:G:A
- Gene:
- C11orf1 (Varview), FDXACB1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_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.
rs1485655478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:111879238
(GRCh38)
11:111749962
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111879237:C:T
- Gene:
- C11orf1 (Varview), FDXACB1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
11.
rs1485103086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:111879155
(GRCh38)
11:111749879
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111879154:G:C
- Gene:
- C11orf1 (Varview), FDXACB1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1484890720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:111874731
(GRCh38)
11:111745455
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111874730:C:G,NC_000011.10:111874730:C:T
- Gene:
- FDXACB1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000011.10:g.111874731C>G, NC_000011.10:g.111874731C>T, NC_000011.9:g.111745455C>G, NC_000011.9:g.111745455C>T, NG_009210.2:g.1850G>C, NG_009210.2:g.1850G>A, NG_009210.1:g.1851G>C, NG_009210.1:g.1851G>A, NG_029081.1:g.9727G>C, NG_029081.1:g.9727G>A, NM_138378.3:c.*191G>C, NM_138378.3:c.*191G>A, NM_138378.2:c.*191G>C, NM_138378.2:c.*191G>A, NR_038364.2:n.1942G>C, NR_038364.2:n.1942G>A, NR_038364.1:n.2234G>C, NR_038364.1:n.2234G>A, NW_003871080.1:g.126722C>G, NW_003871080.1:g.126722C>T
13.
rs1484353358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:111877512
(GRCh38)
11:111748236
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111877511:C:T
- Gene:
- FDXACB1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00008/1
(
ALFA)
T=0.02977/87
(KOREAN)
- HGVS:
14.
rs1484259222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:111876268
(GRCh38)
11:111746992
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111876267:A:C
- Gene:
- FDXACB1 (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:
15.
rs1484101752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:111881011
(GRCh38)
11:111751735
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111881010:A:C
- Gene:
- C11orf1 (Varview), FDXACB1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
17.
rs1483322771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 11:111875671
(GRCh38)
11:111746395
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111875670:C:A,NC_000011.10:111875670:C:T
- Gene:
- FDXACB1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000011.10:g.111875671C>A, NC_000011.10:g.111875671C>T, NC_000011.9:g.111746395C>A, NC_000011.9:g.111746395C>T, NG_009210.2:g.910G>T, NG_009210.2:g.910G>A, NG_009210.1:g.911G>T, NG_009210.1:g.911G>A, NG_029081.1:g.8787G>T, NG_029081.1:g.8787G>A, NM_138378.3:c.1126G>T, NM_138378.3:c.1126G>A, NM_138378.2:c.1126G>T, NM_138378.2:c.1126G>A, NR_038364.2:n.1002G>T, NR_038364.2:n.1002G>A, NR_038364.1:n.1294G>T, NR_038364.1:n.1294G>A, NW_003871080.1:g.127662C>A, NW_003871080.1:g.127662C>T, NP_612387.1:p.Val376Phe, NP_612387.1:p.Val376Ile
18.
rs1483139313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 11:111878308
(GRCh38)
11:111749032
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111878307:C:A,NC_000011.10:111878307:C:G,NC_000011.10:111878307:C:T
- Gene:
- C11orf1 (Varview), FDXACB1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.111878308C>A, NC_000011.10:g.111878308C>G, NC_000011.10:g.111878308C>T, NC_000011.9:g.111749032C>A, NC_000011.9:g.111749032C>G, NC_000011.9:g.111749032C>T, NG_029081.1:g.6150G>T, NG_029081.1:g.6150G>C, NG_029081.1:g.6150G>A, NW_003871080.1:g.130299C>A, NW_003871080.1:g.130299C>G, NW_003871080.1:g.130299C>T
19.
rs1483088705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 11:111877299
(GRCh38)
11:111748023
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111877298:A:C,NC_000011.10:111877298:A:G
- Gene:
- FDXACB1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
20.
rs1483021528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:111880903
(GRCh38)
11:111751627
(GRCh37)
- Canonical SPDI:
- NC_000011.10:111880902:A:T
- Gene:
- C11orf1 (Varview), FDXACB1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: