Links from Gene
Items: 1 to 20 of 1024
1.
rs1491351663 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:27837976
(GRCh38)
6:27805754
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27837975:CA:
- Gene:
- H2AC15 (Varview), H2BC15 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000043/1
(
ALFA)
-=0.000016/2
(ExAC)
-=0.00004/10
(GnomAD_exomes)
-=0.000053/14
(TOPMED)
-=0.000093/13
(GnomAD)
- HGVS:
2.
rs1490876957 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:27838217
(GRCh38)
6:27805995
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27838216:A:G
- Gene:
- H2AC15 (Varview), H2BC15 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
3.
rs1490838148 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GACA>-
[Show Flanks]
- Chromosome:
- 6:27839590
(GRCh38)
6:27807368
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27839587:CAGACA:CA
- Gene:
- H2AC15 (Varview), H2BC15 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
CA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490772884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:27837677
(GRCh38)
6:27805455
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27837676:T:G
- Gene:
- H2AC15 (Varview), H2BC15 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488536278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:27837872
(GRCh38)
6:27805650
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27837871:T:C
- Gene:
- H2AC15 (Varview), H2BC15 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1487672881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 6:27839253
(GRCh38)
6:27807031
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27839252:G:A,NC_000006.12:27839252:G:T
- Gene:
- H2AC15 (Varview), H2BC15 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1487500938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:27836883
(GRCh38)
6:27804661
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27836882:G:A
- Gene:
- H2BC15 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
8.
rs1487396662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:27837466
(GRCh38)
6:27805244
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27837465:A:C
- Gene:
- H2AC15 (Varview), H2BC15 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
9.
rs1487367058 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 6:27839323
(GRCh38)
6:27807101
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27839322:G:A,NC_000006.12:27839322:G:C
- Gene:
- H2AC15 (Varview), H2BC15 (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=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1483937411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:27838077
(GRCh38)
6:27805855
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27838076:A:T
- Gene:
- H2AC15 (Varview), H2BC15 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000031/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1483734853 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:27837968
(GRCh38)
6:27805746
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27837967:G:A
- Gene:
- H2AC15 (Varview), H2BC15 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1483635511 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AG
[Show Flanks]
- Chromosome:
- 6:27837207
(GRCh38)
6:27804986
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27837207:AG:AGAG
- Gene:
- H2BC15 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAG=0./0
(
ALFA)
AG=0.000007/1
(GnomAD)
- HGVS:
13.
rs1482727076 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATCT>-
[Show Flanks]
- Chromosome:
- 6:27837342
(GRCh38)
6:27805120
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27837338:TCTATCT:TCT
- Gene:
- H2BC15 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
14.
rs1482366023 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:27837239
(GRCh38)
6:27805017
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27837238:G:T
- Gene:
- H2BC15 (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:
16.
rs1481379236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:27838290
(GRCh38)
6:27806068
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27838289:G:A
- Gene:
- H2AC15 (Varview), H2BC15 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1480400571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:27837953
(GRCh38)
6:27805731
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27837952:G:A
- Gene:
- H2AC15 (Varview), H2BC15 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1478856248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:27836951
(GRCh38)
6:27804729
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27836950:A:C
- Gene:
- H2BC15 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1478661822 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 6:27838469
(GRCh38)
6:27806247
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27838468:GGG:GG
- Gene:
- H2AC15 (Varview), H2BC15 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1477872512 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 6:27837710
(GRCh38)
6:27805488
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27837709:G:A,NC_000006.12:27837709:G:T
- Gene:
- H2AC15 (Varview), H2BC15 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000106/2
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000446/2
(Estonian)
- HGVS: