Links from Gene
Items: 1 to 20 of 41
1.
rs1484628674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:149850787
(GRCh38)
1:149822354
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149850786:A:T
- Gene:
- H3C15 (Varview), H2BC20P (Varview), H4C15 (Varview), H2AC19 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.03794/450
(
ALFA)
T=0.04599/63
(KOREAN)
- HGVS:
2.
rs1463058857 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:149850745
(GRCh38)
1:149822313
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149850745:CC:CCC
- Gene:
- H3C15 (Varview), H2BC20P (Varview), H4C15 (Varview), H2AC19 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCC=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000189/2
(TOMMO)
- HGVS:
3.
rs1463014284 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:149850637
(GRCh38)
1:149822204
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149850636:A:T
- Gene:
- H3C15 (Varview), H2BC20P (Varview), H4C15 (Varview), H2AC19 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00008/1
(
ALFA)
T=0.00002/1
(GnomAD)
T=0.00004/2
(GnomAD_exomes)
- HGVS:
8.
rs1419844361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:149850715
(GRCh38)
1:149822282
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149850714:G:A,NC_000001.11:149850714:G:C
- Gene:
- H3C15 (Varview), H2BC20P (Varview), H4C15 (Varview), H2AC19 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00004/2
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.149850715G>A, NC_000001.11:g.149850715G>C, NW_003871055.3:g.6666128G>A, NW_003871055.3:g.6666128G>C, NC_000001.10:g.149822282G>A, NC_000001.10:g.149822282G>C, XM_024451708.2:c.*4371C>T, XM_024451708.2:c.*4371C>G, XM_047424434.1:c.*4941C>T, XM_047424434.1:c.*4941C>G, XM_047424439.1:c.*4585C>T, XM_047424439.1:c.*4585C>G, XM_047424442.1:c.*4191C>T, XM_047424442.1:c.*4191C>G, NR_036461.1:n.59C>T, NR_036461.1:n.59C>G
12.
rs1382911280 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:149850957
(GRCh38)
1:149822524
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149850956:G:T
- Gene:
- H3C15 (Varview), H2BC20P (Varview), H4C15 (Varview), H2AC19 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00008/1
(
ALFA)
T=0.016/83
(TOMMO)
T=0.045/18
(KOREAN)
- HGVS:
13.
rs1378230838 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:149850658
(GRCh38)
1:149822225
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149850657:G:C
- Gene:
- H3C15 (Varview), H2BC20P (Varview), H4C15 (Varview), H2AC19 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00008/1
(
ALFA)
C=0.00006/2
(GnomAD)
- HGVS:
14.
rs1362105620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:149850706
(GRCh38)
1:149822273
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149850705:T:C,NC_000001.11:149850705:T:G
- Gene:
- H3C15 (Varview), H2BC20P (Varview), H4C15 (Varview), H2AC19 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00008/1
(
ALFA)
G=0.00005/1
(TOMMO)
- HGVS:
NC_000001.11:g.149850706T>C, NC_000001.11:g.149850706T>G, NW_003871055.3:g.6666119T>C, NW_003871055.3:g.6666119T>G, NC_000001.10:g.149822273T>C, NC_000001.10:g.149822273T>G, XM_024451708.2:c.*4380A>G, XM_024451708.2:c.*4380A>C, XM_047424434.1:c.*4950A>G, XM_047424434.1:c.*4950A>C, XM_047424439.1:c.*4594A>G, XM_047424439.1:c.*4594A>C, XM_047424442.1:c.*4200A>G, XM_047424442.1:c.*4200A>C, NR_036461.1:n.68A>G, NR_036461.1:n.68A>C
16.
rs1326445310 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:149850650
(GRCh38)
1:149822217
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149850649:C:G,NC_000001.11:149850649:C:T
- Gene:
- H3C15 (Varview), H2BC20P (Varview), H4C15 (Varview), H2AC19 (Varview)
- Functional Consequence:
- upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00002/1
(GnomAD_exomes)
G=0.00003/1
(GnomAD)
T=0.00004/1
(TOMMO)
- HGVS:
NC_000001.11:g.149850650C>G, NC_000001.11:g.149850650C>T, NW_003871055.3:g.6666063C>G, NW_003871055.3:g.6666063C>T, NC_000001.10:g.149822217C>G, NC_000001.10:g.149822217C>T, XM_024451708.2:c.*4436G>C, XM_024451708.2:c.*4436G>A, XM_047424434.1:c.*5006G>C, XM_047424434.1:c.*5006G>A, XM_047424439.1:c.*4650G>C, XM_047424439.1:c.*4650G>A, XM_047424442.1:c.*4256G>C, XM_047424442.1:c.*4256G>A, NR_036461.1:n.124G>C, NR_036461.1:n.124G>A
17.
rs1325168790 has merged into rs1166121111 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACGGGACGGG>-,ACGGG
[Show Flanks]
- Chromosome:
- 1:149851700
(GRCh38)
1:149823296
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149851673:GACGGGACGGGACGGGACGGGACGGGACGGGACGGG:GACGGGACGGGACGGGACGGGACGGG,NC_000001.11:149851673:GACGGGACGGGACGGGACGGGACGGGACGGGACGGG:GACGGGACGGGACGGGACGGGACGGGACGGG
- Gene:
- H3C15 (Varview), H2BC20P (Varview), H4C15 (Varview), H2AC19 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by cluster
- HGVS:
NC_000001.11:g.149851675ACGGG[5], NC_000001.11:g.149851675ACGGG[6], NW_003871055.3:g.6667088ACGGG[5], NW_003871055.3:g.6667088ACGGG[6], NC_000001.10:g.149823271_149823272insACGG, NC_000001.10:g.149823267_149823272del, NC_000001.10:g.149823272del, XM_024451708.2:c.*3378CCGTC[5], XM_024451708.2:c.*3378CCGTC[6], XM_047424434.1:c.*3948CCGTC[5], XM_047424434.1:c.*3948CCGTC[6], XM_047424439.1:c.*3592CCGTC[5], XM_047424439.1:c.*3592CCGTC[6], XM_047424442.1:c.*3198CCGTC[5], XM_047424442.1:c.*3198CCGTC[6]
20.
rs1319795606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:149850698
(GRCh38)
1:149822265
(GRCh37)
- Canonical SPDI:
- NC_000001.11:149850697:C:T
- Gene:
- H3C15 (Varview), H2BC20P (Varview), H4C15 (Varview), H2AC19 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00002/1
(GnomAD_exomes)
- HGVS: