Links from Gene
Items: 1 to 20 of 857
1.
rs1489650584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:149885129
(GRCh38)
1:149856679
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149885128:C:T
- Gene:
- H2AC20 (Varview), H2BC21 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
2.
rs1487293802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:149885508
(GRCh38)
1:149857058
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149885507:C:T
- Gene:
- H2AC20 (Varview), H2BC21 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000038/10
(TOPMED)
- HGVS:
3.
rs1487280491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:149886919
(GRCh38)
1:149858469
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149886918:A:G
- Gene:
- H2AC20 (Varview), H2BC21 (Varview)
- Functional Consequence:
- upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- 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.
rs1486267321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:149886858
(GRCh38)
1:149858408
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149886857:A:C,NC_000001.11:149886857:A:G
- Gene:
- H2AC20 (Varview), H2BC21 (Varview)
- Functional Consequence:
- 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)
C=0.000035/1
(TOMMO)
G=0.000156/1
(1000Genomes)
- HGVS:
6.
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:
7.
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:
8.
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:
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.
rs1483898719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:149885980
(GRCh38)
1:149857530
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149885979:C:G
- Gene:
- H2AC20 (Varview), H2BC21 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1483241331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:149886779
(GRCh38)
1:149858329
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149886778:T:A
- Gene:
- H2AC20 (Varview), H2BC21 (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)
- HGVS:
12.
rs1483090291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:149885913
(GRCh38)
1:149857463
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149885912:C:G
- Gene:
- H2AC20 (Varview), H2BC21 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1480098027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:149885728
(GRCh38)
1:149857278
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149885727:C:G
- Gene:
- H2AC20 (Varview), H2BC21 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1479118395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:149886143
(GRCh38)
1:149857693
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149886142:C:G,NC_000001.11:149886142:C:T
- Gene:
- H2AC20 (Varview), H2BC21 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1479005616 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:149885095
(GRCh38)
1:149856645
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149885094:CT:
- Gene:
- H2AC20 (Varview), H2BC21 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
16.
rs1477349710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:149885230
(GRCh38)
1:149856780
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149885229:T:G
- Gene:
- H2AC20 (Varview), H2BC21 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
17.
rs1476766587 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGCG>-,AGCGAGCG
[Show Flanks]
- Chromosome:
- 1:149886238
(GRCh38)
1:149857788
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149886227:CGAGCGAGCGAGCG:CGAGCGAGCG,NC_000001.11:149886227:CGAGCGAGCGAGCG:CGAGCGAGCGAGCGAGCG
- Gene:
- H2AC20 (Varview), H2BC21 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGAGCGAGCGAGCGAGCG=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
18.
rs1476128526 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:149886951
(GRCh38)
1:149858501
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149886949:TCT:T
- Gene:
- H2AC20 (Varview), H2BC21 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000011/3
(TOPMED)
- HGVS:
19.
rs1475701551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:149886062
(GRCh38)
1:149857612
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149886061:T:C,NC_000001.11:149886061:T:G
- Gene:
- H2AC20 (Varview), H2BC21 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
20.
rs1473666956 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:149885476
(GRCh38)
1:149857026
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149885475:C:T
- Gene:
- H2AC20 (Varview), H2BC21 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS: