Links from Gene
Items: 1 to 20 of 1107
1.
rs1490314969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:26019838
(GRCh38)
6:26020066
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26019837:A:T
- Gene:
- H3C1 (Varview), H4C1 (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:
2.
rs1489555368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:26020892
(GRCh38)
6:26021120
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26020891:A:G
- Gene:
- H3C1 (Varview), H4C1 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1487937320 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:26018513
(GRCh38)
6:26018741
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26018512:G:T
- Gene:
- H1-1 (Varview), H3C1 (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:
4.
rs1487092856 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:26018975
(GRCh38)
6:26019203
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26018974:C:T
- Gene:
- H1-1 (Varview), H3C1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1485236341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 6:26021268
(GRCh38)
6:26021496
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26021267:G:A,NC_000006.12:26021267:G:C
- Gene:
- H3C1 (Varview), H4C1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
6.
rs1485122901 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:26019969
(GRCh38)
6:26020197
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26019968:G:A
- Gene:
- H3C1 (Varview), H4C1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1481346186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:26021348
(GRCh38)
6:26021576
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26021347:G:A
- Gene:
- H3C1 (Varview), H4C1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00011/29
(TOPMED)
A=0.000128/18
(GnomAD)
- HGVS:
8.
rs1480788370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:26018569
(GRCh38)
6:26018797
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26018568:A:G
- Gene:
- H1-1 (Varview), H3C1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
9.
rs1480740687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:26018752
(GRCh38)
6:26018980
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26018751:C:T
- Gene:
- H1-1 (Varview), H3C1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1479894653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:26018933
(GRCh38)
6:26019161
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26018932:G:C
- Gene:
- H1-1 (Varview), H3C1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000045/12
(TOPMED)
- HGVS:
12.
rs1479155924 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTT>-
[Show Flanks]
- Chromosome:
- 6:26019978
(GRCh38)
6:26020206
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26019976:TCTTT:T
- Gene:
- H3C1 (Varview), H4C1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
-=0.000016/2
(GnomAD)
- HGVS:
14.
rs1478285371 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 6:26020864
(GRCh38)
6:26021092
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26020863:CC:C
- Gene:
- H3C1 (Varview), H4C1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1476588522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:26019056
(GRCh38)
6:26019284
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26019055:G:C
- Gene:
- H1-1 (Varview), H3C1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1475028836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:26019544
(GRCh38)
6:26019772
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26019543:T:G
- Gene:
- H1-1 (Varview), H3C1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1469824645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:26019296
(GRCh38)
6:26019524
(GRCh37)
- Canonical SPDI:
- NC_000006.12:26019295:A:C
- Gene:
- H1-1 (Varview), H3C1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS: