Links from Gene
Items: 1 to 20 of 1498
1.
rs1491053833 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:9186930
(GRCh38)
19:9297606
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9186928:TCT:T
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490509795 has merged into rs755935536 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:9183967
(GRCh38)
19:9294643
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9183955:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.05/2
(GENOME_DK)
- HGVS:
NC_000019.10:g.9183967_9183993del, NC_000019.10:g.9183968_9183993del, NC_000019.10:g.9183969_9183993del, NC_000019.10:g.9183970_9183993del, NC_000019.10:g.9183971_9183993del, NC_000019.10:g.9183972_9183993del, NC_000019.10:g.9183973_9183993del, NC_000019.10:g.9183974_9183993del, NC_000019.10:g.9183975_9183993del, NC_000019.10:g.9183976_9183993del, NC_000019.10:g.9183977_9183993del, NC_000019.10:g.9183978_9183993del, NC_000019.10:g.9183979_9183993del, NC_000019.10:g.9183980_9183993del, NC_000019.10:g.9183981_9183993del, NC_000019.10:g.9183982_9183993del, NC_000019.10:g.9183983_9183993del, NC_000019.10:g.9183984_9183993del, NC_000019.10:g.9183985_9183993del, NC_000019.10:g.9183986_9183993del, NC_000019.10:g.9183987_9183993del, NC_000019.10:g.9183988_9183993del, NC_000019.10:g.9183989_9183993del, NC_000019.10:g.9183991_9183993del, NC_000019.10:g.9183992_9183993del, NC_000019.10:g.9183993del, NC_000019.10:g.9183993dup, NC_000019.10:g.9183992_9183993dup, NC_000019.10:g.9183991_9183993dup, NC_000019.10:g.9183990_9183993dup, NC_000019.10:g.9183989_9183993dup, NC_000019.10:g.9183988_9183993dup, NC_000019.10:g.9183984_9183993dup, NC_000019.10:g.9183983_9183993dup, NC_000019.10:g.9183982_9183993dup, NC_000019.10:g.9183981_9183993dup, NC_000019.10:g.9183978_9183993dup, NC_000019.10:g.9183977_9183993dup, NC_000019.10:g.9183976_9183993dup, NC_000019.10:g.9183975_9183993dup, NC_000019.10:g.9183974_9183993dup, NC_000019.10:g.9183973_9183993dup, NC_000019.10:g.9183972_9183993dup, NC_000019.10:g.9183970_9183993dup, NC_000019.10:g.9183969_9183993dup, NC_000019.10:g.9183968_9183993dup, NC_000019.10:g.9183963_9183993dup, NC_000019.9:g.9294643_9294669del, NC_000019.9:g.9294644_9294669del, NC_000019.9:g.9294645_9294669del, NC_000019.9:g.9294646_9294669del, NC_000019.9:g.9294647_9294669del, NC_000019.9:g.9294648_9294669del, NC_000019.9:g.9294649_9294669del, NC_000019.9:g.9294650_9294669del, NC_000019.9:g.9294651_9294669del, NC_000019.9:g.9294652_9294669del, NC_000019.9:g.9294653_9294669del, NC_000019.9:g.9294654_9294669del, NC_000019.9:g.9294655_9294669del, NC_000019.9:g.9294656_9294669del, NC_000019.9:g.9294657_9294669del, NC_000019.9:g.9294658_9294669del, NC_000019.9:g.9294659_9294669del, NC_000019.9:g.9294660_9294669del, NC_000019.9:g.9294661_9294669del, NC_000019.9:g.9294662_9294669del, NC_000019.9:g.9294663_9294669del, NC_000019.9:g.9294664_9294669del, NC_000019.9:g.9294665_9294669del, NC_000019.9:g.9294667_9294669del, NC_000019.9:g.9294668_9294669del, NC_000019.9:g.9294669del, NC_000019.9:g.9294669dup, NC_000019.9:g.9294668_9294669dup, NC_000019.9:g.9294667_9294669dup, NC_000019.9:g.9294666_9294669dup, NC_000019.9:g.9294665_9294669dup, NC_000019.9:g.9294664_9294669dup, NC_000019.9:g.9294660_9294669dup, NC_000019.9:g.9294659_9294669dup, NC_000019.9:g.9294658_9294669dup, NC_000019.9:g.9294657_9294669dup, NC_000019.9:g.9294654_9294669dup, NC_000019.9:g.9294653_9294669dup, NC_000019.9:g.9294652_9294669dup, NC_000019.9:g.9294651_9294669dup, NC_000019.9:g.9294650_9294669dup, NC_000019.9:g.9294649_9294669dup, NC_000019.9:g.9294648_9294669dup, NC_000019.9:g.9294646_9294669dup, NC_000019.9:g.9294645_9294669dup, NC_000019.9:g.9294644_9294669dup, NC_000019.9:g.9294639_9294669dup
3.
rs1490457708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:9184642
(GRCh38)
19:9295318
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9184641:G:A
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000043/6
(GnomAD)
A=0.000057/15
(TOPMED)
- HGVS:
4.
rs1490127722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:9188513
(GRCh38)
19:9299189
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9188512:C:T
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(KOREAN)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
T=0.000106/2
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS:
5.
rs1489964811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:9187581
(GRCh38)
19:9298257
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9187580:T:C
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000054/1
(
ALFA)
C=0.000023/6
(TOPMED)
C=0.000043/6
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
6.
rs1489266012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:9184629
(GRCh38)
19:9295305
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9184628:A:G
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000084/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1488869459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:9185031
(GRCh38)
19:9295707
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9185030:G:A
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488651035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:9185872
(GRCh38)
19:9296548
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9185871:T:C
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1488445583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:9187658
(GRCh38)
19:9298334
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9187657:A:G
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488394142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 19:9188717
(GRCh38)
19:9299393
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9188716:A:C,NC_000019.10:9188716:A:G
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0./0
(GnomAD)
- HGVS:
NC_000019.10:g.9188717A>C, NC_000019.10:g.9188717A>G, NC_000019.9:g.9299393A>C, NC_000019.9:g.9299393A>G, NM_175883.4:c.*1997A>C, NM_175883.4:c.*1997A>G, NM_175883.3:c.*1997A>C, NM_175883.3:c.*1997A>G, NM_175883.2:c.*1997A>C, NM_175883.2:c.*1997A>G, XM_047438317.1:c.*1997A>C, XM_047438317.1:c.*1997A>G, NM_001386112.1:c.*1997A>C, NM_001386112.1:c.*1997A>G
11.
rs1488284745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:9184180
(GRCh38)
19:9294856
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9184179:A:G
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488245992 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTATATATATGTATGTGT>-
[Show Flanks]
- Chromosome:
- 19:9184771
(GRCh38)
19:9295447
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9184747:TGTGTGTATATATATGTATGTGTGTGTATATATATGTATGTGT:TGTGTGTATATATATGTATGTGT
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTATATATATGTATGTGT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000318/5
(TOMMO)
-=0.001638/3
(Korea1K)
- HGVS:
13.
rs1487726450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:9185776
(GRCh38)
19:9296452
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9185775:A:G
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
14.
rs1487699513 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 19:9184286
(GRCh38)
19:9294962
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9184284:ATA:A
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1484123056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:9184743
(GRCh38)
19:9295419
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9184742:T:G
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1483379621 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:9184553
(GRCh38)
19:9295229
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9184552:A:G
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1482945572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 19:9183923
(GRCh38)
19:9294599
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9183922:A:C,NC_000019.10:9183922:A:G
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
C=0.00203/13
(1000Genomes)
- HGVS:
18.
rs1482305966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:9187763
(GRCh38)
19:9298439
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9187762:T:C
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1480733329 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 19:9186762
(GRCh38)
19:9297438
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9186761:AA:A
- Gene:
- OR7D2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000005/1
(GnomAD_exomes)
-=0.000007/1
(GnomAD)
- HGVS: