Links from Gene
Items: 1 to 20 of 1472
1.
rs1490297700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:14031724
(GRCh38)
19:14142536
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14031723:A:G
- Gene:
- IL27RA (Varview), RLN3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
2.
rs1489747148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 19:14026198
(GRCh38)
19:14137010
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14026197:C:A,NC_000019.10:14026197:C:G,NC_000019.10:14026197:C:T
- Gene:
- RLN3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
4.
rs1488765521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:14027272
(GRCh38)
19:14138084
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14027271:C:T
- Gene:
- RLN3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
5.
rs1486905979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:14031784
(GRCh38)
19:14142596
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14031783:C:A
- Gene:
- IL27RA (Varview), RLN3 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
6.
rs1486631905 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:14027622
(GRCh38)
19:14138434
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14027621:G:A
- Gene:
- RLN3 (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:
7.
rs1486185882 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGAGGCCCCCACCCCC
[Show Flanks]
- Chromosome:
- 19:14031630
(GRCh38)
19:14142443
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14031630:CGGAGGCCCCCACCCCC:CGGAGGCCCCCACCCCCGGAGGCCCCCACCCCC
- Gene:
- IL27RA (Varview), RLN3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
CGGAGGCCCCCACCCCCGGAGGCCCCCACCCCC=0./0
(
ALFA)
CGGAGGCCCCCACCCC=0.000007/1
(GnomAD)
- HGVS:
8.
rs1486078394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:14026617
(GRCh38)
19:14137429
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14026616:G:C
- Gene:
- RLN3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1486070677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:14030512
(GRCh38)
19:14141324
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14030511:G:C
- Gene:
- IL27RA (Varview), RLN3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_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.
rs1485033677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:14027506
(GRCh38)
19:14138318
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14027505:A:C
- Gene:
- RLN3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1484998933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:14028041
(GRCh38)
19:14138853
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14028040:G:A
- Gene:
- RLN3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1484970444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:14030333
(GRCh38)
19:14141145
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14030332:T:A
- Gene:
- IL27RA (Varview), RLN3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,coding_sequence_variant,stop_gained,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
14.
rs1484364049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:14027140
(GRCh38)
19:14137952
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14027139:G:C
- Gene:
- RLN3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
C=0.000312/2
(1000Genomes)
- HGVS:
15.
rs1484031122 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:14029561
(GRCh38)
19:14140373
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14029560:G:C
- Gene:
- RLN3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1483402371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:14030300
(GRCh38)
19:14141112
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14030299:G:T
- Gene:
- IL27RA (Varview), RLN3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD_exomes)
- HGVS:
17.
rs1482487537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:14028896
(GRCh38)
19:14139708
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14028895:T:C
- Gene:
- RLN3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1482482515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:14026256
(GRCh38)
19:14137068
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14026255:G:A
- Gene:
- RLN3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
19.
rs1481052676 has merged into rs58482695 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTATTATTATTATT>-,ATT,ATTATT,ATTATTATT,ATTATTATTATT,ATTATTATTATTATTATT,ATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATTATTATTATTATT,ATTATTATTATTATTATTATTATTATTATTATTATTATT
[Show Flanks]
- Chromosome:
- 19:14029828
(GRCh38)
19:14140640
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATT,NC_000019.10:14029806:ATTATTATTATTATTATTATTATTATTATTATTATT:ATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATT
- Gene:
- IL27RA (Varview), RLN3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATTATTATTATTATTATTATTATT=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.14029807ATT[7], NC_000019.10:g.14029807ATT[8], NC_000019.10:g.14029807ATT[9], NC_000019.10:g.14029807ATT[10], NC_000019.10:g.14029807ATT[11], NC_000019.10:g.14029807ATT[13], NC_000019.10:g.14029807ATT[14], NC_000019.10:g.14029807ATT[15], NC_000019.10:g.14029807ATT[16], NC_000019.10:g.14029807ATT[17], NC_000019.10:g.14029807ATT[18], NC_000019.10:g.14029807ATT[19], NC_000019.10:g.14029807ATT[20], NC_000019.9:g.14140619ATT[7], NC_000019.9:g.14140619ATT[8], NC_000019.9:g.14140619ATT[9], NC_000019.9:g.14140619ATT[10], NC_000019.9:g.14140619ATT[11], NC_000019.9:g.14140619ATT[13], NC_000019.9:g.14140619ATT[14], NC_000019.9:g.14140619ATT[15], NC_000019.9:g.14140619ATT[16], NC_000019.9:g.14140619ATT[17], NC_000019.9:g.14140619ATT[18], NC_000019.9:g.14140619ATT[19], NC_000019.9:g.14140619ATT[20], NW_021160022.1:g.241648ATT[7], NW_021160022.1:g.241648ATT[8], NW_021160022.1:g.241648ATT[9], NW_021160022.1:g.241648ATT[10], NW_021160022.1:g.241648ATT[11], NW_021160022.1:g.241648ATT[13], NW_021160022.1:g.241648ATT[14], NW_021160022.1:g.241648ATT[15], NW_021160022.1:g.241648ATT[16], NW_021160022.1:g.241648ATT[17], NW_021160022.1:g.241648ATT[18], NW_021160022.1:g.241648ATT[19], NW_021160022.1:g.241648ATT[20]
20.
rs1479368059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:14030656
(GRCh38)
19:14141468
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14030655:T:G
- Gene:
- IL27RA (Varview), RLN3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: