Links from Gene
Items: 1 to 20 of 6660
1.
rs1491326913 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 9:83997108
(GRCh38)
9:86612023
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83997107:CT:
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00017/2
(
ALFA)
-=0.00002/2
(GnomAD)
- HGVS:
2.
rs1491133764 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 9:83989679
(GRCh38)
9:86604594
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83989677:ATA:A
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000105/11
(GnomAD)
-=0.000284/5
(TOMMO)
-=0.118578/457
(ALSPAC)
-=0.135653/503
(TWINSUK)
- HGVS:
3.
rs1491017469 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 9:83999198
(GRCh38)
9:86614113
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83999196:ATA:A
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000053/14
(TOPMED)
-=0.000057/8
(GnomAD)
- HGVS:
4.
rs1490888011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:84000355
(GRCh38)
9:86615270
(GRCh37)
- Canonical SPDI:
- NC_000009.12:84000354:A:G
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490841538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:83986261
(GRCh38)
9:86601176
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83986260:G:C
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
- HGVS:
6.
rs1490733113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:83980280
(GRCh38)
9:86595195
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83980279:G:A
- Gene:
- HNRNPK (Varview), RMI1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490568022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:83979985
(GRCh38)
9:86594900
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83979984:G:C
- Gene:
- HNRNPK (Varview), RMI1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
8.
rs1490542295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:83979502
(GRCh38)
9:86594417
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83979501:G:A
- Gene:
- HNRNPK (Varview), RMI1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490510607 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:83988853
(GRCh38)
9:86603768
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83988852:A:G
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000034/9
(TOPMED)
- HGVS:
10.
rs1490347570 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:83987605
(GRCh38)
9:86602520
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83987604:A:G
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS:
11.
rs1490346654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:84002915
(GRCh38)
9:86617830
(GRCh37)
- Canonical SPDI:
- NC_000009.12:84002914:G:T
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000009.12:g.84002915G>T, NC_000009.11:g.86617830G>T, NM_024945.3:c.*51G>T, NM_024945.2:c.*51G>T, XM_017015140.2:c.*51G>T, XM_017015140.1:c.*51G>T, NM_001358292.2:c.*51G>T, NM_001358292.1:c.*51G>T, NM_001358294.2:c.*51G>T, NM_001358294.1:c.*51G>T, NM_001358293.2:c.*51G>T, NM_001358293.1:c.*51G>T, NM_001358291.2:c.*51G>T, NM_001358291.1:c.*51G>T
12.
rs1490319726 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:83985282
(GRCh38)
9:86600197
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83985281:A:G
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490208296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:83979935
(GRCh38)
9:86594850
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83979934:G:A
- Gene:
- HNRNPK (Varview), RMI1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
14.
rs1489685564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:83991339
(GRCh38)
9:86606254
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83991338:C:G,NC_000009.12:83991338:C:T
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- 5_prime_UTR_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)
T=0.00006/1
(TOMMO)
- HGVS:
15.
rs1489598093 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:83986672
(GRCh38)
9:86601587
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83986671:G:A
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1489213674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:83984491
(GRCh38)
9:86599406
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83984490:G:T
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.00004/1
(TOMMO)
- HGVS:
17.
rs1489088897 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTT>-
[Show Flanks]
- Chromosome:
- 9:83978837
(GRCh38)
9:86593752
(GRCh37)
- Canonical SPDI:
- NC_000009.12:83978835:TATTT:T
- Gene:
- HNRNPK (Varview), RMI1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488994953 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:84001028
(GRCh38)
9:86615943
(GRCh37)
- Canonical SPDI:
- NC_000009.12:84001027:T:A
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000009.12:g.84001028T>A, NC_000009.11:g.86615943T>A, NM_024945.3:c.42T>A, NM_024945.2:c.42T>A, XM_017015140.2:c.42T>A, XM_017015140.1:c.42T>A, NM_001358292.2:c.42T>A, NM_001358292.1:c.42T>A, NM_001358294.2:c.42T>A, NM_001358294.1:c.42T>A, NM_001358293.2:c.42T>A, NM_001358293.1:c.42T>A, NM_001358291.2:c.42T>A, NM_001358291.1:c.42T>A
19.
rs1488878654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:84000785
(GRCh38)
9:86615700
(GRCh37)
- Canonical SPDI:
- NC_000009.12:84000784:T:A
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1488871315 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:84004359
(GRCh38)
9:86619274
(GRCh37)
- Canonical SPDI:
- NC_000009.12:84004358:G:A
- Gene:
- RMI1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: