Links from Gene
Items: 1 to 20 of 5680
2.
rs1490742714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:73376344
(GRCh38)
11:73087389
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73376343:C:G
- Gene:
- RELT (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:
3.
rs1490646140 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 11:73384795
(GRCh38)
11:73095840
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73384794:GG:G
- Gene:
- RELT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
4.
rs1490596049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:73382667
(GRCh38)
11:73093712
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73382666:G:T
- Gene:
- RELT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490197558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:73375912
(GRCh38)
11:73086957
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73375911:C:G
- Gene:
- RELT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489827418 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATG
[Show Flanks]
- Chromosome:
- 11:73385890
(GRCh38)
11:73096936
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73385890:GCATG:GCATGCATG
- Gene:
- RELT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
GCAT=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489798086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:73387852
(GRCh38)
11:73098897
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73387851:G:A
- Gene:
- RELT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_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:
9.
rs1489752837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:73376888
(GRCh38)
11:73087933
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73376887:C:T
- Gene:
- RELT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1489298885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:73387902
(GRCh38)
11:73098947
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73387901:C:G,NC_000011.10:73387901:C:T
- Gene:
- RELT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489282775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:73389119
(GRCh38)
11:73100164
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73389118:A:G
- Gene:
- RELT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_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:
12.
rs1489124111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:73395883
(GRCh38)
11:73106928
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73395882:C:G
- Gene:
- RELT (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1489037401 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:73388923
(GRCh38)
11:73099968
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73388922:C:T
- Gene:
- RELT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1488764532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:73396549
(GRCh38)
11:73107594
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73396548:C:T
- Gene:
- RELT (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_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:
16.
rs1488734113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:73388751
(GRCh38)
11:73099796
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73388750:C:A
- Gene:
- RELT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1488713827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:73396681
(GRCh38)
11:73107726
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73396680:A:C
- Gene:
- RELT (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488539812 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:73381251
(GRCh38)
11:73092296
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73381250:G:A
- Gene:
- RELT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1488492862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:73384819
(GRCh38)
11:73095864
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73384818:A:G
- Gene:
- RELT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488419711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:73375422
(GRCh38)
11:73086467
(GRCh37)
- Canonical SPDI:
- NC_000011.10:73375421:C:A
- Gene:
- RELT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: