Links from Gene
Items: 1 to 20 of 735
1.
rs1490510126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:132029550
(GRCh38)
12:132514095
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132029549:G:A
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000132/2
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000446/2
(Estonian)
- HGVS:
2.
rs1489370434 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:132031259
(GRCh38)
12:132515804
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132031258:T:C
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
3.
rs1489257869 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:132031598
(GRCh38)
12:132516143
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132031597:G:A
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
4.
rs1489123283 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:132030183
(GRCh38)
12:132514728
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132030182:T:A
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1488446884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:132029813
(GRCh38)
12:132514358
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132029812:C:T
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000016/4
(GnomAD_exomes)
- HGVS:
6.
rs1488042222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:132029852
(GRCh38)
12:132514397
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132029851:G:A
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1487984142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:132031783
(GRCh38)
12:132516328
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132031782:C:T
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_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.
rs1484337236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 12:132031784
(GRCh38)
12:132516329
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132031783:T:A,NC_000012.12:132031783:T:G
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1484204219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:132030960
(GRCh38)
12:132515505
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132030959:C:T
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1483880540 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:132031001
(GRCh38)
12:132515546
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132031000:C:G,NC_000012.12:132031000:C:T
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1482568787 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:132030448
(GRCh38)
12:132514993
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132030447:A:G
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1480867855 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 12:132030353
(GRCh38)
12:132514898
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132030352:G:
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1480483330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:132029303
(GRCh38)
12:132513848
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132029302:T:C
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1479365826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:132029745
(GRCh38)
12:132514290
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132029744:T:A
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
15.
rs1479063652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:132030092
(GRCh38)
12:132514637
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132030091:G:A
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000015/4
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
16.
rs1478030046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:132029760
(GRCh38)
12:132514305
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132029759:C:T
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1477532767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:132030258
(GRCh38)
12:132514803
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132030257:G:T
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000447/2
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.00067/3
(Estonian)
- HGVS:
18.
rs1477512550 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:132030944
(GRCh38)
12:132515489
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132030943:T:C
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1477079832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:132031404
(GRCh38)
12:132515949
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132031403:C:T
- Gene:
- EP400 (Varview), SNORA49 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS: