Links from Gene
Items: 1 to 20 of 1000
1.
rs1491134310 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 4:99948531
(GRCh38)
4:100869688
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99948527:GAGAG:GAG
- Gene:
- H2AZ1 (Varview), DNAJB14 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490827191 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GTT>-
[Show Flanks]
- Chromosome:
- 4:99948195
(GRCh38)
4:100869352
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99948194:GTT:
- Gene:
- H2AZ1 (Varview), DNAJB14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1489816201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:99950579
(GRCh38)
4:100871736
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99950578:G:T
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
4.
rs1489374291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 4:99949990
(GRCh38)
4:100871147
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99949989:C:A,NC_000004.12:99949989:C:T
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1488245471 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:99948878
(GRCh38)
4:100870035
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99948877:G:A
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
6.
rs1487311704 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:99948289
(GRCh38)
4:100869446
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99948288:G:A
- Gene:
- H2AZ1 (Varview), DNAJB14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1487269073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:99950208
(GRCh38)
4:100871365
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99950207:A:G
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1486610126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:99949409
(GRCh38)
4:100870566
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99949408:A:C
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1486040327 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:99949421
(GRCh38)
4:100870578
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99949420:A:G
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
10.
rs1485867195 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGT>-
[Show Flanks]
- Chromosome:
- 4:99952190
(GRCh38)
4:100873347
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99952187:GTGGT:GT
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
11.
rs1485306627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 4:99950132
(GRCh38)
4:100871289
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99950131:A:G,NC_000004.12:99950131:A:T
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00004/1
(TOMMO)
- HGVS:
12.
rs1484125842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:99950292
(GRCh38)
4:100871449
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99950291:C:T
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
13.
rs1483246585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:99948252
(GRCh38)
4:100869409
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99948251:T:C
- Gene:
- H2AZ1 (Varview), DNAJB14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1483213501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:99950731
(GRCh38)
4:100871888
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99950730:C:T
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1483180782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:99951741
(GRCh38)
4:100872898
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99951740:C:T
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000029/4
(GnomAD)
T=0.000035/1
(TOMMO)
T=0.000546/1
(Korea1K)
T=0.000684/2
(KOREAN)
C=0.5/1
(SGDP_PRJ)
- HGVS:
16.
rs1482673459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:99950535
(GRCh38)
4:100871692
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99950534:A:C
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_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.
rs1482643898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:99951374
(GRCh38)
4:100872531
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99951373:C:T
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1482318910 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:99951836
(GRCh38)
4:100872993
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99951835:T:G
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
19.
rs1481841708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:99951334
(GRCh38)
4:100872491
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99951333:T:C
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1481077540 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:99949183
(GRCh38)
4:100870340
(GRCh37)
- Canonical SPDI:
- NC_000004.12:99949182:G:C
- Gene:
- H2AZ1 (Varview), H2AZ1-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: