SNP Links for Gene (Select 390181) - SNP

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Select item 14899874671.

rs1489987467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:56990141 (GRCh38)
11:56757616 (GRCh37)
Canonical SPDI:: NC_000011.10:56990140:A:G
Gene:: OR5AK2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.56990141A>G, NC_000011.9:g.56757616A>G

Select item 14892030322.

rs1489203032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:56987169 (GRCh38)
11:56754644 (GRCh37)
Canonical SPDI:: NC_000011.10:56987168:G:C
Gene:: OR5AK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.56987169G>C, NC_000011.9:g.56754644G>C

Select item 14882195883.

rs1488219588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:56988231 (GRCh38)
11:56755706 (GRCh37)
Canonical SPDI:: NC_000011.10:56988230:C:T
Gene:: OR5AK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000011.10:g.56988231C>T, NC_000011.9:g.56755706C>T

Select item 14881172434.

rs1488117243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:56990183 (GRCh38)
11:56757658 (GRCh37)
Canonical SPDI:: NC_000011.10:56990182:A:G
Gene:: OR5AK2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000038/10 (TOPMED)
G=0.000057/8 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.56990183A>G, NC_000011.9:g.56757658A>G

Select item 14876663255.

rs1487666325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:56989723 (GRCh38)
11:56757198 (GRCh37)
Canonical SPDI:: NC_000011.10:56989722:T:C
Gene:: OR5AK2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.56989723T>C, NC_000011.9:g.56757198T>C, NM_001005323.1:c.810T>C

Select item 14873197666.

rs1487319766 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 11:56989616 (GRCh38)
11:56757091 (GRCh37)
Canonical SPDI:: NC_000011.10:56989615:AAAAAA:AAAAA,NC_000011.10:56989615:AAAAAA:AAAAAAA
Gene:: OR5AK2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.56989621del, NC_000011.10:g.56989621dup, NC_000011.9:g.56757096del, NC_000011.9:g.56757096dup, NM_001005323.1:c.708del, NM_001005323.1:c.708dup, NP_001005323.1:p.Lys236fs, NP_001005323.1:p.Ser237fs

Select item 14864787247.

rs1486478724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:56987192 (GRCh38)
11:56754667 (GRCh37)
Canonical SPDI:: NC_000011.10:56987191:C:A
Gene:: OR5AK2 (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=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.56987192C>A, NC_000011.9:g.56754667C>A

Select item 14863659598.

rs1486365959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:56988123 (GRCh38)
11:56755598 (GRCh37)
Canonical SPDI:: NC_000011.10:56988122:C:T
Gene:: OR5AK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.56988123C>T, NC_000011.9:g.56755598C>T

Select item 14863532529.

rs1486353252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:56988293 (GRCh38)
11:56755768 (GRCh37)
Canonical SPDI:: NC_000011.10:56988292:G:A
Gene:: OR5AK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.56988293G>A, NC_000011.9:g.56755768G>A

Select item 148604062410.

rs1486040624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:56987742 (GRCh38)
11:56755217 (GRCh37)
Canonical SPDI:: NC_000011.10:56987741:G:A
Gene:: OR5AK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.56987742G>A, NC_000011.9:g.56755217G>A

Select item 148601633611.

rs1486016336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:56988010 (GRCh38)
11:56755485 (GRCh37)
Canonical SPDI:: NC_000011.10:56988009:C:T
Gene:: OR5AK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.56988010C>T, NC_000011.9:g.56755485C>T

Select item 148432623312.

rs1484326233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:56988457 (GRCh38)
11:56755932 (GRCh37)
Canonical SPDI:: NC_000011.10:56988456:C:A
Gene:: OR5AK2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000049/13 (TOPMED)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000011.10:g.56988457C>A, NC_000011.9:g.56755932C>A

Select item 148342501813.

rs1483425018 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:56989512 (GRCh38)
11:56756987 (GRCh37)
Canonical SPDI:: NC_000011.10:56989511:T:C
Gene:: OR5AK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56989512T>C, NC_000011.9:g.56756987T>C, NM_001005323.1:c.599T>C, NP_001005323.1:p.Val200Ala

Select item 148285551814.

rs1482855518 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 11:56989416 (GRCh38)
11:56756891 (GRCh37)
Canonical SPDI:: NC_000011.10:56989413:CTTCT:CT
Gene:: OR5AK2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.00008/1 (GoESP)
HGVS:: NC_000011.10:g.56989416_56989418del, NC_000011.9:g.56756891_56756893del, NM_001005323.1:c.503_505del, NP_001005323.1:p.Phe168del

Select item 148274621715.

rs1482746217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:56989570 (GRCh38)
11:56757045 (GRCh37)
Canonical SPDI:: NC_000011.10:56989569:C:G
Gene:: OR5AK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56989570C>G, NC_000011.9:g.56757045C>G, NM_001005323.1:c.657C>G, NP_001005323.1:p.Ile219Met

Select item 148154904216.

rs1481549042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:56987837 (GRCh38)
11:56755312 (GRCh37)
Canonical SPDI:: NC_000011.10:56987836:G:A,NC_000011.10:56987836:G:T
Gene:: OR5AK2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000743/12 (TOMMO)
A=0.001711/5 (KOREAN)
HGVS:: NC_000011.10:g.56987837G>A, NC_000011.10:g.56987837G>T, NC_000011.9:g.56755312G>A, NC_000011.9:g.56755312G>T

Select item 147785933817.

rs1477859338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:56989961 (GRCh38)
11:56757436 (GRCh37)
Canonical SPDI:: NC_000011.10:56989960:T:A,NC_000011.10:56989960:T:C
Gene:: OR5AK2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.56989961T>A, NC_000011.10:g.56989961T>C, NC_000011.9:g.56757436T>A, NC_000011.9:g.56757436T>C

Select item 147757836818.

rs1477578368 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:56989988 (GRCh38)
11:56757463 (GRCh37)
Canonical SPDI:: NC_000011.10:56989987:A:G
Gene:: OR5AK2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.56989988A>G, NC_000011.9:g.56757463A>G

Select item 147751719819.

rs1477517198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:56988000 (GRCh38)
11:56755475 (GRCh37)
Canonical SPDI:: NC_000011.10:56987999:T:A
Gene:: OR5AK2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.56988000T>A, NC_000011.9:g.56755475T>A

Select item 147588845520.

rs1475888455 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACAAACAG>- [Show Flanks]
Chromosome:: 11:56989386 (GRCh38)
11:56756861 (GRCh37)
Canonical SPDI:: NC_000011.10:56989384:GTACAAACAG:G
Gene:: OR5AK2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.56989386_56989394del, NC_000011.9:g.56756861_56756869del, NM_001005323.1:c.473_481del, NP_001005323.1:p.Val158_Thr160del

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