Links from Gene
Items: 1 to 20 of 839
1.
rs1490743922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:149889870
(GRCh38)
1:149861420
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149889869:G:T
- Gene:
- H2AC21 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490578938 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GCGG
[Show Flanks]
- Chromosome:
- 1:149889455
(GRCh38)
1:149861006
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149889455::GCGG
- Gene:
- H2AC21 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGG=0./0
(
ALFA)
GCGG=0.000004/1
(TOPMED)
GCGG=0.000007/1
(GnomAD)
- HGVS:
3.
rs1489756554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:149888124
(GRCh38)
1:149859674
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149888123:G:C
- Gene:
- H2BC21 (Varview), H2AC21 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000043/6
(GnomAD)
- HGVS:
4.
rs1486591670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:149887138
(GRCh38)
1:149858688
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149887137:T:C,NC_000001.11:149887137:T:G
- Gene:
- H2AC20 (Varview), H2BC21 (Varview), H2AC21 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000043/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
G=0.001652/3
(Korea1K)
- HGVS:
NC_000001.11:g.149887138T>C, NC_000001.11:g.149887138T>G, NW_003871055.3:g.6702551T>C, NW_003871055.3:g.6702551T>G, NC_000001.10:g.149858688T>C, NC_000001.10:g.149858688T>G, NM_003517.3:c.164T>C, NM_003517.3:c.164T>G, NM_003517.2:c.164T>C, NM_003517.2:c.164T>G, NP_003508.1:p.Val55Ala, NP_003508.1:p.Val55Gly
5.
rs1485833590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:149887461
(GRCh38)
1:149859011
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149887460:T:C
- Gene:
- H2AC20 (Varview), H2BC21 (Varview), H2AC21 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
6.
rs1485684161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:149887506
(GRCh38)
1:149859056
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149887505:T:C
- Gene:
- H2AC20 (Varview), H2BC21 (Varview), H2AC21 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
7.
rs1485615235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:149887454
(GRCh38)
1:149859004
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149887453:C:T
- Gene:
- H2AC20 (Varview), H2BC21 (Varview), H2AC21 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_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:
8.
rs1485145418 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:149888283
(GRCh38)
1:149859833
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149888282:C:T
- Gene:
- H2BC21 (Varview), H2AC21 (Varview)
- Functional Consequence:
- upstream_transcript_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:
9.
rs1484814693 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:149887850
(GRCh38)
1:149859400
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149887849:C:T
- Gene:
- H2AC20 (Varview), H2BC21 (Varview), H2AC21 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1484163288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:149888639
(GRCh38)
1:149860189
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149888638:G:A,NC_000001.11:149888638:G:C
- Gene:
- H2BC21 (Varview), H2AC21 (Varview)
- Functional Consequence:
- upstream_transcript_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)
C=0.000035/1
(TOMMO)
- HGVS:
11.
rs1483433259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:149889259
(GRCh38)
1:149860809
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149889258:C:G
- Gene:
- H2AC21 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000038/10
(TOPMED)
- HGVS:
12.
rs1483361218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:149888370
(GRCh38)
1:149859920
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149888369:G:C
- Gene:
- H2BC21 (Varview), H2AC21 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1480784136 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:149889497
(GRCh38)
1:149861047
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149889496:C:T
- Gene:
- H2AC21 (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:
14.
rs1479929630 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTTG
[Show Flanks]
- Chromosome:
- 1:149888255
(GRCh38)
1:149859806
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149888255:TTTGCTTTGCTTTG:TTTGCTTTGCTTTGCTTTG
- Gene:
- H2BC21 (Varview), H2AC21 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTGCTTTGCTTTGCTTTG=0./0
(
ALFA)
TTTGC=0.000014/2
(GnomAD)
TTTGC=0.000015/4
(TOPMED)
- HGVS:
15.
rs1476892574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:149888611
(GRCh38)
1:149860161
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149888610:A:G
- Gene:
- H2BC21 (Varview), H2AC21 (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=0.000007/1
(GnomAD)
- HGVS:
16.
rs1476021273 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:149889861
(GRCh38)
1:149861411
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149889860:G:
- Gene:
- H2AC21 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.001239/21
(TOMMO)
- HGVS:
17.
rs1475249780 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTG>-
[Show Flanks]
- Chromosome:
- 1:149888029
(GRCh38)
1:149859579
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149888025:TTGATTG:TTG
- Gene:
- H2BC21 (Varview), H2AC21 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TTG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
18.
rs1474569326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:149888349
(GRCh38)
1:149859899
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149888348:G:A
- Gene:
- H2BC21 (Varview), H2AC21 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1473393182 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:149887548
(GRCh38)
1:149859098
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149887547:A:G
- Gene:
- H2AC20 (Varview), H2BC21 (Varview), H2AC21 (Varview)
- Functional Consequence:
- synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000087/2
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: