Links from Gene
Items: 1 to 20 of 18221
2.
rs1491282024 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,C
[Show Flanks]
- Chromosome:
- 9:122659573
(GRCh38)
9:125421853
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122659573::A,NC_000009.12:122659573::C
- Gene:
- OR1B1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.00008/2
(GnomAD)
- HGVS:
4.
rs1491167147 has merged into rs35316590 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:122659586
(GRCh38)
9:125421865
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122659572:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OR1B1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000009.12:g.122659586_122659591del, NC_000009.12:g.122659587_122659591del, NC_000009.12:g.122659589_122659591del, NC_000009.12:g.122659590_122659591del, NC_000009.12:g.122659591del, NC_000009.12:g.122659591dup, NC_000009.12:g.122659590_122659591dup, NC_000009.12:g.122659589_122659591dup, NC_000009.12:g.122659588_122659591dup, NC_000009.12:g.122659587_122659591dup, NC_000009.12:g.122659586_122659591dup, NC_000009.12:g.122659585_122659591dup, NC_000009.12:g.122659584_122659591dup, NC_000009.11:g.125421865_125421870del, NC_000009.11:g.125421866_125421870del, NC_000009.11:g.125421868_125421870del, NC_000009.11:g.125421869_125421870del, NC_000009.11:g.125421870del, NC_000009.11:g.125421870dup, NC_000009.11:g.125421869_125421870dup, NC_000009.11:g.125421868_125421870dup, NC_000009.11:g.125421867_125421870dup, NC_000009.11:g.125421866_125421870dup, NC_000009.11:g.125421865_125421870dup, NC_000009.11:g.125421864_125421870dup, NC_000009.11:g.125421863_125421870dup, NG_034002.1:g.2871_2876del, NG_034002.1:g.2872_2876del, NG_034002.1:g.2874_2876del, NG_034002.1:g.2875_2876del, NG_034002.1:g.2876del, NG_034002.1:g.2876dup, NG_034002.1:g.2875_2876dup, NG_034002.1:g.2874_2876dup, NG_034002.1:g.2873_2876dup, NG_034002.1:g.2872_2876dup, NG_034002.1:g.2871_2876dup, NG_034002.1:g.2870_2876dup, NG_034002.1:g.2869_2876dup
5.
rs1491054540 has merged into rs34815159 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:122605339
(GRCh38)
9:125367618
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122605328:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.122605339_122605349del, NC_000009.12:g.122605340_122605349del, NC_000009.12:g.122605341_122605349del, NC_000009.12:g.122605342_122605349del, NC_000009.12:g.122605344_122605349del, NC_000009.12:g.122605345_122605349del, NC_000009.12:g.122605346_122605349del, NC_000009.12:g.122605347_122605349del, NC_000009.12:g.122605348_122605349del, NC_000009.12:g.122605349del, NC_000009.12:g.122605349dup, NC_000009.12:g.122605348_122605349dup, NC_000009.12:g.122605347_122605349dup, NC_000009.12:g.122605346_122605349dup, NC_000009.12:g.122605345_122605349dup, NC_000009.12:g.122605344_122605349dup, NC_000009.12:g.122605343_122605349dup, NC_000009.12:g.122605342_122605349dup, NC_000009.12:g.122605349_122605350insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.125367618_125367628del, NC_000009.11:g.125367619_125367628del, NC_000009.11:g.125367620_125367628del, NC_000009.11:g.125367621_125367628del, NC_000009.11:g.125367623_125367628del, NC_000009.11:g.125367624_125367628del, NC_000009.11:g.125367625_125367628del, NC_000009.11:g.125367626_125367628del, NC_000009.11:g.125367627_125367628del, NC_000009.11:g.125367628del, NC_000009.11:g.125367628dup, NC_000009.11:g.125367627_125367628dup, NC_000009.11:g.125367626_125367628dup, NC_000009.11:g.125367625_125367628dup, NC_000009.11:g.125367624_125367628dup, NC_000009.11:g.125367623_125367628dup, NC_000009.11:g.125367622_125367628dup, NC_000009.11:g.125367621_125367628dup, NC_000009.11:g.125367628_125367629insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
6.
rs1491021020 has merged into rs34388109 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 9:122626381
(GRCh38)
9:125388660
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122626372:TTTTTTTTTT:TTTTTTTT,NC_000009.12:122626372:TTTTTTTTTT:TTTTTTTTT,NC_000009.12:122626372:TTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:122626372:TTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:122626372:TTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- LOC124902265 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
T=0.375/15
(GENOME_DK)
T=0.3967/238
(NorthernSweden)
T=0.4398/1695
(ALSPAC)
T=0.445/1650
(TWINSUK)
T=0.4508/2015
(Estonian)
T=0.4545/2149
(1000Genomes)
- HGVS:
7.
rs1491000030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:122628561
(GRCh38)
9:125390840
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122628560:T:C
- Gene:
- OR1B1 (Varview), LOC124902265 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
8.
rs1490988486 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 9:122595867
(GRCh38)
9:125358147
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122595867:GG:GGG
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0./0
(
ALFA)
G=0.00005/7
(GnomAD)
G=0.000057/15
(TOPMED)
- HGVS:
9.
rs1490981059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:122610478
(GRCh38)
9:125372757
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122610477:T:G
- Gene:
- LOC124902265 (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:
10.
rs1490968956 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:122659261
(GRCh38)
9:125421540
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122659260:T:C
- Gene:
- OR1B1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000157/22
(GnomAD)
- HGVS:
11.
rs1490899424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:122649423
(GRCh38)
9:125411702
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122649422:G:A
- Gene:
- OR1B1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1490899067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:122603157
(GRCh38)
9:125365436
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122603156:A:G
- Validated:
- by frequency
- MAF:
G=0.000029/4
(GnomAD)
- HGVS:
13.
rs1490830758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:122632722
(GRCh38)
9:125395001
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122632721:A:G
- Gene:
- OR1B1 (Varview), LOC124902265 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490806149 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 9:122633671
(GRCh38)
9:125395950
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122633670:T:C,NC_000009.12:122633670:T:G
- Gene:
- OR1B1 (Varview), LOC124902265 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490754471 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 9:122634346
(GRCh38)
9:125396626
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122634346:A:AGA
- Gene:
- OR1B1 (Varview), LOC124902265 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGA=0./0
(
ALFA)
AG=0.000004/1
(TOPMED)
AG=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490690974 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTAT>-
[Show Flanks]
- Chromosome:
- 9:122639769
(GRCh38)
9:125402048
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122639765:TATTTAT:TAT
- Gene:
- OR1B1 (Varview), LOC124902265 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAT=0.000054/1
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.000051/7
(GnomAD)
- HGVS:
17.
rs1490643076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:122640283
(GRCh38)
9:125402562
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122640282:T:C
- Gene:
- OR1B1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
19.
rs1490607684 has merged into rs370191871 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAT>-,TATTAT
[Show Flanks]
- Chromosome:
- 9:122590157
(GRCh38)
9:125352436
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122590146:TTATTATTATTAT:TTATTATTAT,NC_000009.12:122590146:TTATTATTATTAT:TTATTATTATTATTAT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTATTATTAT=0.00055/10
(
ALFA)
-=0.00167/1
(NorthernSweden)
-=0.00179/8
(Estonian)
-=0.00953/48
(1000Genomes)
- HGVS:
20.
rs1490584249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 9:122601432
(GRCh38)
9:125363711
(GRCh37)
- Canonical SPDI:
- NC_000009.12:122601431:G:C,NC_000009.12:122601431:G:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS: