Links from Gene
Items: 1 to 20 of 7612
1.
rs1491485154 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 8:73309627
(GRCh38)
8:74221863
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73309627:C:CC
- Gene:
- RDH10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000187/3
(
ALFA)
C=0.002526/298
(GnomAD)
- HGVS:
2.
rs1491248075 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 8:73294262
(GRCh38)
8:74206498
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73294262:A:AA
- Gene:
- RPL7 (Varview), RDH10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491238812 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTTT,GTTTTTGTTTT
[Show Flanks]
- Chromosome:
- 8:73320476
(GRCh38)
8:74232712
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73320476:TTTT:TTTTGTTTT,NC_000008.11:73320476:TTTT:TTTTGTTTTTGTTTT
- Gene:
- RDH10 (Varview), RDH10-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTGTTTTTGTTTT=0./0
(
ALFA)
- HGVS:
5.
rs1491001750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:73300946
(GRCh38)
8:74213181
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73300945:A:G
- Gene:
- RDH10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
G=0.000684/2
(KOREAN)
- HGVS:
7.
rs1490831411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:73294269
(GRCh38)
8:74206504
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73294268:A:G
- Gene:
- RPL7 (Varview), RDH10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490671345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 8:73294007
(GRCh38)
8:74206242
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73294006:G:A,NC_000008.11:73294006:G:C,NC_000008.11:73294006:G:T
- Gene:
- RPL7 (Varview), RDH10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.73294007G>A, NC_000008.11:g.73294007G>C, NC_000008.11:g.73294007G>T, NC_000008.10:g.74206242G>A, NC_000008.10:g.74206242G>C, NC_000008.10:g.74206242G>T, NM_001363737.2:c.-248C>T, NM_001363737.2:c.-248C>G, NM_001363737.2:c.-248C>A, NM_001363737.1:c.-248C>T, NM_001363737.1:c.-248C>G, NM_001363737.1:c.-248C>A
9.
rs1490655576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:73293460
(GRCh38)
8:74205695
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73293459:C:G
- Gene:
- RPL7 (Varview), RDH10 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
10.
rs1490556879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:73309028
(GRCh38)
8:74221263
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73309027:A:G
- Gene:
- RDH10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490398487 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 8:73300097
(GRCh38)
8:74212332
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73300095:TGT:T
- Gene:
- RDH10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490271177 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:73325275
(GRCh38)
8:74237510
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73325274:C:A,NC_000008.11:73325274:C:T
- Gene:
- RDH10 (Varview), RDH10-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
13.
rs1489976322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:73300107
(GRCh38)
8:74212342
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73300106:A:T
- Gene:
- RDH10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489858095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:73301424
(GRCh38)
8:74213659
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73301423:G:A
- Gene:
- RDH10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.0002/1
(
ALFA)
A=0.0002/1
(Estonian)
- HGVS:
16.
rs1489838980 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAA>-
[Show Flanks]
- Chromosome:
- 8:73293181
(GRCh38)
8:74205416
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73293178:AATAA:AA
- Gene:
- RPL7 (Varview), RDH10 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
18.
rs1489632595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 8:73308608
(GRCh38)
8:74220843
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73308607:C:A,NC_000008.11:73308607:C:G
- Gene:
- RDH10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489597706 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:73303894
(GRCh38)
8:74216129
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73303893:A:G
- Gene:
- RDH10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
20.
rs1489565183 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:73319561
(GRCh38)
8:74231796
(GRCh37)
- Canonical SPDI:
- NC_000008.11:73319560:C:T
- Gene:
- RDH10 (Varview), RDH10-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS: