Links from Gene
Items: 1 to 20 of 1000
1.
rs1490837268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:26043585
(GRCh38)
6:26043813
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26043584:T:C
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490700268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 6:26043877
(GRCh38)
6:26044105
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26043876:A:C,NC_000006.12:26043876:A:G
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490188117 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:26044180
(GRCh38)
6:26044408
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26044179:C:A
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
- HGVS:
4.
rs1489602963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 6:26044000
(GRCh38)
6:26044228
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26043999:G:A,NC_000006.12:26043999:G:C,NC_000006.12:26043999:G:T
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.00004/1
(TOMMO)
- HGVS:
5.
rs1489066145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:26044797
(GRCh38)
6:26045025
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26044796:A:G
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1486632426 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:26043994
(GRCh38)
6:26044222
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26043993:C:A
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
7.
rs1484928128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:26043879
(GRCh38)
6:26044107
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26043878:A:G
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000318/5
(TOMMO)
- HGVS:
8.
rs1484332415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:26044738
(GRCh38)
6:26044966
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26044737:G:T
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1484256355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 6:26044087
(GRCh38)
6:26044315
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26044086:T:A,NC_000006.12:26044086:T:C
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
- HGVS:
10.
rs1483450161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 6:26044380
(GRCh38)
6:26044608
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26044379:C:G,NC_000006.12:26044379:C:T
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
G=0.000156/1
(1000Genomes)
- HGVS:
11.
rs1481811623 has merged into rs779550523 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T
[Show Flanks]
- Chromosome:
- 6:26046059
(GRCh38)
6:26046287
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26046055:TTTTT:TTT,NC_000006.12:26046055:TTTTT:TTTT
- Gene:
- H3C3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
12.
rs1481673746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:26046109
(GRCh38)
6:26046337
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26046108:C:A
- Gene:
- H3C3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1481422360 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:26043579
(GRCh38)
6:26043807
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26043578:C:T
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1481234738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:26043431
(GRCh38)
6:26043659
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26043430:C:G
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000008/2
(GnomAD_exomes)
- HGVS:
15.
rs1480573878 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:26044054
(GRCh38)
6:26044282
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26044053:C:A
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD_exomes)
A=0.000021/3
(GnomAD)
- HGVS:
16.
rs1479920631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:26046005
(GRCh38)
6:26046233
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26046004:G:C
- Gene:
- H3C3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1479080551 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CACTC>-
[Show Flanks]
- Chromosome:
- 6:26044359
(GRCh38)
6:26044587
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26044358:CACTC:
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000111/1
(
ALFA)
-=0.000005/1
(GnomAD_exomes)
- HGVS:
18.
rs1478719999 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:26043792
(GRCh38)
6:26044020
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26043791:A:G
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1478100465 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GCGCC
[Show Flanks]
- Chromosome:
- 6:26044140
(GRCh38)
6:26044369
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26044140::GCGCC
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
GCGCC=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1478049495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 6:26045560
(GRCh38)
6:26045788
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26045559:C:A,NC_000006.12:26045559:C:T
- Gene:
- H2BC3 (Varview), H3C3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000008/2
(GnomAD_exomes)
- HGVS: