Links from Gene
Items: 1 to 20 of 872
2.
rs1489794328 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:3127925
(GRCh38)
17:3031219
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3127924:A:G
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1488384916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:3129343
(GRCh38)
17:3032637
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3129342:T:A
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
4.
rs1486486041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:3128295
(GRCh38)
17:3031589
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3128294:C:T
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
5.
rs1486157754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:3128630
(GRCh38)
17:3031924
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3128629:T:G
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
6.
rs1484585914 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTAA>-
[Show Flanks]
- Chromosome:
- 17:3126311
(GRCh38)
17:3029605
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3126307:TAACTAA:TAA
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1483172458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:3126122
(GRCh38)
17:3029416
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3126121:G:A
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1480643370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:3128355
(GRCh38)
17:3031649
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3128354:C:T
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1479571619 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 17:3126856
(GRCh38)
17:3030150
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3126855:CT:
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
10.
rs1477165952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 17:3128022
(GRCh38)
17:3031316
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3128021:A:C,NC_000017.11:3128021:A:G
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1476561300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:3128486
(GRCh38)
17:3031780
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3128485:C:T
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000223/1
(Estonian)
- HGVS:
13.
rs1475268879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 17:3126984
(GRCh38)
17:3030278
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3126983:T:C,NC_000017.11:3126983:T:G
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1474934612 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 17:3129151
(GRCh38)
17:3032445
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3129150:G:
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000457/7
(
ALFA)
-=0.000106/2
(TOMMO)
-=0.000967/121
(GnomAD)
- HGVS:
15.
rs1474009764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:3129261
(GRCh38)
17:3032555
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3129260:G:A
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1473736808 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:3126989
(GRCh38)
17:3030283
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3126988:G:A
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1472817641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:3126201
(GRCh38)
17:3029495
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3126200:G:A
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1472262887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:3127284
(GRCh38)
17:3030578
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3127283:G:A
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- stop_gained,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1470947776 has merged into rs5818891 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:3129140
(GRCh38)
17:3032434
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:3129130:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.3129140_3129150del, NC_000017.11:g.3129141_3129150del, NC_000017.11:g.3129142_3129150del, NC_000017.11:g.3129144_3129150del, NC_000017.11:g.3129145_3129150del, NC_000017.11:g.3129146_3129150del, NC_000017.11:g.3129147_3129150del, NC_000017.11:g.3129148_3129150del, NC_000017.11:g.3129149_3129150del, NC_000017.11:g.3129150del, NC_000017.11:g.3129150dup, NC_000017.11:g.3129149_3129150dup, NC_000017.11:g.3129148_3129150dup, NC_000017.11:g.3129147_3129150dup, NC_000017.11:g.3129146_3129150dup, NC_000017.11:g.3129145_3129150dup, NC_000017.11:g.3129144_3129150dup, NC_000017.11:g.3129143_3129150dup, NC_000017.11:g.3129142_3129150dup, NC_000017.11:g.3129141_3129150dup, NC_000017.11:g.3129140_3129150dup, NC_000017.11:g.3129139_3129150dup, NC_000017.11:g.3129137_3129150dup, NC_000017.11:g.3129136_3129150dup, NC_000017.11:g.3129135_3129150dup, NC_000017.11:g.3129134_3129150dup, NC_000017.11:g.3129133_3129150dup, NC_000017.11:g.3129131_3129150dup, NC_000017.11:g.3129150_3129151insTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.3129150_3129151insTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.3032434_3032444del, NC_000017.10:g.3032435_3032444del, NC_000017.10:g.3032436_3032444del, NC_000017.10:g.3032438_3032444del, NC_000017.10:g.3032439_3032444del, NC_000017.10:g.3032440_3032444del, NC_000017.10:g.3032441_3032444del, NC_000017.10:g.3032442_3032444del, NC_000017.10:g.3032443_3032444del, NC_000017.10:g.3032444del, NC_000017.10:g.3032444dup, NC_000017.10:g.3032443_3032444dup, NC_000017.10:g.3032442_3032444dup, NC_000017.10:g.3032441_3032444dup, NC_000017.10:g.3032440_3032444dup, NC_000017.10:g.3032439_3032444dup, NC_000017.10:g.3032438_3032444dup, NC_000017.10:g.3032437_3032444dup, NC_000017.10:g.3032436_3032444dup, NC_000017.10:g.3032435_3032444dup, NC_000017.10:g.3032434_3032444dup, NC_000017.10:g.3032433_3032444dup, NC_000017.10:g.3032431_3032444dup, NC_000017.10:g.3032430_3032444dup, NC_000017.10:g.3032429_3032444dup, NC_000017.10:g.3032428_3032444dup, NC_000017.10:g.3032427_3032444dup, NC_000017.10:g.3032425_3032444dup, NC_000017.10:g.3032444_3032445insTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.3032444_3032445insTTTTTTTTTTTTTTTTTTTTTT
20.
rs1470652402 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:3127960
(GRCh38)
17:3031254
(GRCh37)
- Canonical SPDI:
- NC_000017.11:3127959:G:C
- Gene:
- OR1G1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: