Links from Gene
Items: 1 to 20 of 1000
1.
rs1491456076 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCA
[Show Flanks]
- Chromosome:
- 22:20252080
(GRCh38)
22:20239604
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20252080:CA:CACCA
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
CAC=0.00035/10
(TOMMO)
CAC=0.00328/6
(Korea1K)
- HGVS:
3.
rs1490956853 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:20261746
(GRCh38)
22:20249269
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20261745:C:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490866148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:20248279
(GRCh38)
22:20235802
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20248278:C:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000214/3
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
5.
rs1490744823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:20247537
(GRCh38)
22:20235060
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20247536:C:G
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490694390 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:20265591
(GRCh38)
22:20253114
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20265590:G:A,NC_000022.11:20265590:G:C
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000084/1
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000043/6
(GnomAD)
A=0.000342/1
(KOREAN)
- HGVS:
7.
rs1490606969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:20253297
(GRCh38)
22:20240820
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20253296:G:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490579852 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:20268195
(GRCh38)
22:20255718
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20268194:G:A
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490549087 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:20267521
(GRCh38)
22:20255044
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20267520:G:A
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000548/1
(Korea1K)
- HGVS:
11.
rs1490249109 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:20268889
(GRCh38)
22:20256412
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20268888:G:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- 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:
12.
rs1490202308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:20264732
(GRCh38)
22:20252255
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20264731:C:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
13.
rs1490002396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:20248543
(GRCh38)
22:20236066
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20248542:C:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489883332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 22:20246388
(GRCh38)
22:20233911
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20246387:C:A
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489729187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:20268468
(GRCh38)
22:20255991
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20268467:G:A
- Gene:
- RTN4R (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=0.000014/2
(GnomAD)
- HGVS:
17.
rs1489527876 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:20253435
(GRCh38)
22:20240958
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20253434:C:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
18.
rs1489406752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:20267533
(GRCh38)
22:20255056
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20267532:G:T
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489136274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:20242649
(GRCh38)
22:20230172
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20242648:G:A,NC_000022.11:20242648:G:C
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,stop_gained
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000022.11:g.20242649G>A, NC_000022.11:g.20242649G>C, NC_000022.10:g.20230172G>A, NC_000022.10:g.20230172G>C, NG_012176.2:g.30645C>T, NG_012176.2:g.30645C>G, NM_023004.6:c.484C>T, NM_023004.6:c.484C>G, NM_023004.5:c.484C>T, NM_023004.5:c.484C>G, NP_075380.1:p.Gln162Ter, NP_075380.1:p.Gln162Glu
20.
rs1489002881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:20241257
(GRCh38)
22:20228780
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20241256:G:A
- Gene:
- RTN4R (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: