Links from Gene
Items: 1 to 20 of 3737
1.
rs1490361998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:33109147
(GRCh38)
7:33148759
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33109146:C:T
- Gene:
- RP9 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
2.
rs1490330351 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 7:33106097
(GRCh38)
7:33145709
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33106095:AAA:A
- Gene:
- RP9 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490310415 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 7:33103631
(GRCh38)
7:33143243
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33103629:ATA:A
- Gene:
- RP9 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490284381 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 7:33102405
(GRCh38)
7:33142017
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33102404:GGG:GG
- Gene:
- RP9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.00046/8
(TOMMO)
-=0.002183/4
(Korea1K)
- HGVS:
5.
rs1490198096 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:33108130
(GRCh38)
7:33147742
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33108129:T:C
- Gene:
- RP9 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
7.
rs1489693623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:33109239
(GRCh38)
7:33148851
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33109238:A:G
- Gene:
- RP9 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489569959 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:33110812
(GRCh38)
7:33150424
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33110811:T:C
- Gene:
- RP9 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1489397017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:33100485
(GRCh38)
7:33140097
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33100484:C:T
- Gene:
- RP9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1489018005 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 7:33095650
(GRCh38)
7:33135262
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33095649:G:
- Gene:
- RP9 (Varview), LOC124901610 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
11.
rs1488943684 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:33104714
(GRCh38)
7:33144326
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33104713:G:A
- Gene:
- RP9 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1488809712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:33103470
(GRCh38)
7:33143082
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33103469:T:A
- Gene:
- RP9 (Varview)
- Functional Consequence:
- intron_variant,genic_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:
14.
rs1488554843 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGGG
[Show Flanks]
- Chromosome:
- 7:33107018
(GRCh38)
7:33146631
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33107018:GGGAGGG:GGGAGGGAGGG
- Gene:
- RP9 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGAGGGAGGG=0./0
(
ALFA)
GGGA=0.000007/1
(GnomAD)
GGGA=0.000011/3
(TOPMED)
- HGVS:
15.
rs1488528039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:33095257
(GRCh38)
7:33134869
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33095256:T:C
- Gene:
- RP9 (Varview), LOC124901610 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000007.14:g.33095257T>C, NC_000007.13:g.33134869T>C, NG_012968.1:g.19134A>G, NM_203288.2:c.643A>G, NM_203288.1:c.643A>G, XM_011515468.4:c.541A>G, XM_011515468.3:c.541A>G, XM_011515468.2:c.541A>G, XM_011515468.1:c.541A>G, XR_007060277.1:n.1184T>C, XR_007060278.1:n.1170T>C, XR_007060279.1:n.1055T>C, NP_976033.1:p.Asn215Asp, XP_011513770.1:p.Asn181Asp
16.
rs1488379513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:33100816
(GRCh38)
7:33140428
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33100815:A:C
- Gene:
- RP9 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1487959939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:33105194
(GRCh38)
7:33144806
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33105193:T:G
- Gene:
- RP9 (Varview)
- Functional Consequence:
- intron_variant,genic_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:
19.
rs1487273519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:33102414
(GRCh38)
7:33142026
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33102413:C:G
- Gene:
- RP9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
20.
rs1487119683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:33109317
(GRCh38)
7:33148929
(GRCh37)
- Canonical SPDI:
- NC_000007.14:33109316:C:G,NC_000007.14:33109316:C:T
- Gene:
- RP9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000013/1
(GnomAD_exomes)
G=0.000035/1
(TOMMO)
- HGVS:
NC_000007.14:g.33109317C>G, NC_000007.14:g.33109317C>T, NC_000007.13:g.33148929C>G, NC_000007.13:g.33148929C>T, NG_012968.1:g.5074G>C, NG_012968.1:g.5074G>A, NM_203288.2:c.56G>C, NM_203288.2:c.56G>A, NM_203288.1:c.56G>C, NM_203288.1:c.56G>A, NP_976033.1:p.Arg19Pro, NP_976033.1:p.Arg19His