SNP Links for Gene (Select 119774) - SNP

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Select item 14912441511.

rs1491244151 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 11:4447645 (GRCh38)
11:4468875 (GRCh37)
Canonical SPDI:: NC_000011.10:4447644:AA:
Gene:: OR52K2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.4447645_4447646del, NC_000011.9:g.4468875_4468876del

Select item 14909008452.

rs1490900845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:4449291 (GRCh38)
11:4470521 (GRCh37)
Canonical SPDI:: NC_000011.10:4449290:G:A
Gene:: OR52K2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.4449291G>A, NC_000011.9:g.4470521G>A

Select item 14899325833.

rs1489932583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:4450847 (GRCh38)
11:4472077 (GRCh37)
Canonical SPDI:: NC_000011.10:4450846:T:C
Gene:: OR52K2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.4450847T>C, NC_000011.9:g.4472077T>C

Select item 14887361724.

rs1488736172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:4448555 (GRCh38)
11:4469785 (GRCh37)
Canonical SPDI:: NC_000011.10:4448554:A:G
Gene:: OR52K2 (Varview)
Functional Consequence:: 2KB_upstream_variant,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:: NC_000011.10:g.4448555A>G, NC_000011.9:g.4469785A>G

Select item 14884667215.

rs1488466721 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:4448013 (GRCh38)
11:4469243 (GRCh37)
Canonical SPDI:: NC_000011.10:4448012:T:C
Gene:: OR52K2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.4448013T>C, NC_000011.9:g.4469243T>C

Select item 14883081586.

rs1488308158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:4449403 (GRCh38)
11:4470633 (GRCh37)
Canonical SPDI:: NC_000011.10:4449402:C:A,NC_000011.10:4449402:C:T
Gene:: OR52K2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4449403C>A, NC_000011.10:g.4449403C>T, NC_000011.9:g.4470633C>A, NC_000011.9:g.4470633C>T, NM_001005172.2:c.64C>A, NM_001005172.2:c.64C>T, NP_001005172.2:p.Leu22Met

Select item 14877538207.

rs1487753820 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:4448917 (GRCh38)
11:4470147 (GRCh37)
Canonical SPDI:: NC_000011.10:4448916:T:G
Gene:: OR52K2 (Varview)
Functional Consequence:: 2KB_upstream_variant,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)
G=0.000035/1 (TOMMO)
G=0.000156/1 (1000Genomes)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.4448917T>G, NC_000011.9:g.4470147T>G

Select item 14846528788.

rs1484652878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:4447458 (GRCh38)
11:4468688 (GRCh37)
Canonical SPDI:: NC_000011.10:4447457:C:T
Gene:: OR52K2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.4447458C>T, NC_000011.9:g.4468688C>T

Select item 14840418759.

rs1484041875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:4448234 (GRCh38)
11:4469464 (GRCh37)
Canonical SPDI:: NC_000011.10:4448233:G:T
Gene:: OR52K2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.4448234G>T, NC_000011.9:g.4469464G>T

Select item 148401162710.

rs1484011627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:4447478 (GRCh38)
11:4468708 (GRCh37)
Canonical SPDI:: NC_000011.10:4447477:A:C
Gene:: OR52K2 (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=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.4447478A>C, NC_000011.9:g.4468708A>C

Select item 148195290111.

rs1481952901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:4449831 (GRCh38)
11:4471061 (GRCh37)
Canonical SPDI:: NC_000011.10:4449830:G:C
Gene:: OR52K2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.4449831G>C, NC_000011.9:g.4471061G>C, NM_001005172.2:c.492G>C

Select item 148067050512.

rs1480670505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:4450014 (GRCh38)
11:4471244 (GRCh37)
Canonical SPDI:: NC_000011.10:4450013:G:A,NC_000011.10:4450013:G:C
Gene:: OR52K2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.4450014G>A, NC_000011.10:g.4450014G>C, NC_000011.9:g.4471244G>A, NC_000011.9:g.4471244G>C, NM_001005172.2:c.675G>A, NM_001005172.2:c.675G>C, NP_001005172.2:p.Gln225His

Select item 147845387413.

rs1478453874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:4447768 (GRCh38)
11:4468998 (GRCh37)
Canonical SPDI:: NC_000011.10:4447767:C:A
Gene:: OR52K2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.4447768C>A, NC_000011.9:g.4468998C>A

Select item 147842032114.

rs1478420321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:4447832 (GRCh38)
11:4469062 (GRCh37)
Canonical SPDI:: NC_000011.10:4447831:G:T
Gene:: OR52K2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.4447832G>T, NC_000011.9:g.4469062G>T

Select item 147832644515.

rs1478326445 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:4448901 (GRCh38)
11:4470131 (GRCh37)
Canonical SPDI:: NC_000011.10:4448898:CTCT:CT
Gene:: OR52K2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.4448899CT[1], NC_000011.9:g.4470129CT[1]

Select item 147747524616.

rs1477475246 has merged into rs1010870564 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 11:4448137 (GRCh38)
11:4469367 (GRCh37)
Canonical SPDI:: NC_000011.10:4448136:TTTTTTTT:TTTTTTT,NC_000011.10:4448136:TTTTTTTT:TTTTTTTTT
Gene:: OR52K2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00032/5 (TOMMO)
-=0.00055/1 (Korea1K)
HGVS:: NC_000011.10:g.4448144del, NC_000011.10:g.4448144dup, NC_000011.9:g.4469374del, NC_000011.9:g.4469374dup

Select item 147734120117.

rs1477341201 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAATT>- [Show Flanks]
Chromosome:: 11:4448978 (GRCh38)
11:4470208 (GRCh37)
Canonical SPDI:: NC_000011.10:4448975:TTGAATT:TT
Gene:: OR52K2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.4448978_4448982del, NC_000011.9:g.4470208_4470212del

Select item 147664979018.

rs1476649790 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:4449527 (GRCh38)
11:4470757 (GRCh37)
Canonical SPDI:: NC_000011.10:4449526:T:G
Gene:: OR52K2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4449527T>G, NC_000011.9:g.4470757T>G, NM_001005172.2:c.188T>G, NP_001005172.2:p.Leu63Arg

Select item 147632196419.

rs1476321964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:4449789 (GRCh38)
11:4471019 (GRCh37)
Canonical SPDI:: NC_000011.10:4449788:T:C
Gene:: OR52K2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4449789T>C, NC_000011.9:g.4471019T>C, NM_001005172.2:c.450T>C

Select item 147617308820.

rs1476173088 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:4450327 (GRCh38)
11:4471557 (GRCh37)
Canonical SPDI:: NC_000011.10:4450326:T:C
Gene:: OR52K2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.4450327T>C, NC_000011.9:g.4471557T>C, NM_001005172.2:c.*43T>C

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