SNP Links for Gene (Select 120586) - SNP

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Select item 14907261941.

rs1490726194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:56092180 (GRCh38)
11:55859656 (GRCh37)
Canonical SPDI:: NC_000011.10:56092179:A:G,NC_000011.10:56092179:A:T
Gene:: OR8I2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.56092180A>G, NC_000011.10:g.56092180A>T, NC_000011.9:g.55859656A>G, NC_000011.9:g.55859656A>T

Select item 14905106342.

rs1490510634 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGATCCAGTCAGCAGCAGGCAGGCAGAAGG>- [Show Flanks]
Chromosome:: 11:56093983 (GRCh38)
11:55861459 (GRCh37)
Canonical SPDI:: NC_000011.10:56093981:GAGGATCCAGTCAGCAGCAGGCAGGCAGAAGG:G
Gene:: OR8I2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56093983_56094013del, NC_000011.9:g.55861459_55861489del, NM_001003750.1:c.676_706del, NP_001003750.1:p.Arg226fs

Select item 14900126433.

rs1490012643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:56091700 (GRCh38)
11:55859176 (GRCh37)
Canonical SPDI:: NC_000011.10:56091699:C:T
Gene:: OR8I2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.56091700C>T, NC_000011.9:g.55859176C>T

Select item 14876790204.

rs1487679020 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GACTAGAATCATATT [Show Flanks]
Chromosome:: 11:56092695 (GRCh38)
11:55860172 (GRCh37)
Canonical SPDI:: NC_000011.10:56092695:T:TGACTAGAATCATATT
Gene:: OR8I2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGACTAGAATCATATT=0./0 (ALFA)
TGACTAGAATCATAT=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.56092696_56092697insGACTAGAATCATATT, NC_000011.9:g.55860172_55860173insGACTAGAATCATATT

Select item 14870462415.

rs1487046241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 11:56091823 (GRCh38)
11:55859299 (GRCh37)
Canonical SPDI:: NC_000011.10:56091822:A:C,NC_000011.10:56091822:A:T
Gene:: OR8I2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.56091823A>C, NC_000011.10:g.56091823A>T, NC_000011.9:g.55859299A>C, NC_000011.9:g.55859299A>T

Select item 14862340676.

rs1486234067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:56091319 (GRCh38)
11:55858795 (GRCh37)
Canonical SPDI:: NC_000011.10:56091318:G:T
Gene:: OR8I2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000053/14 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000011.10:g.56091319G>T, NC_000011.9:g.55858795G>T

Select item 14860011597.

rs1486001159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:56093104 (GRCh38)
11:55860580 (GRCh37)
Canonical SPDI:: NC_000011.10:56093103:C:A,NC_000011.10:56093103:C:T
Gene:: OR8I2 (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)
A=0.000035/1 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.56093104C>A, NC_000011.10:g.56093104C>T, NC_000011.9:g.55860580C>A, NC_000011.9:g.55860580C>T

Select item 14836806048.

rs1483680604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:56093504 (GRCh38)
11:55860980 (GRCh37)
Canonical SPDI:: NC_000011.10:56093503:T:C
Gene:: OR8I2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.56093504T>C, NC_000011.9:g.55860980T>C, NM_001003750.1:c.197T>C, NP_001003750.1:p.Leu66Ser

Select item 14835472669.

rs1483547266 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:56094410 (GRCh38)
11:55861886 (GRCh37)
Canonical SPDI:: NC_000011.10:56094409:A:T
Gene:: OR8I2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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.56094410A>T, NC_000011.9:g.55861886A>T

Select item 148298858310.

rs1482988583 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:56092921 (GRCh38)
11:55860397 (GRCh37)
Canonical SPDI:: NC_000011.10:56092920:A:G
Gene:: OR8I2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.56092921A>G, NC_000011.9:g.55860397A>G

Select item 148212873711.

rs1482128737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:56093832 (GRCh38)
11:55861308 (GRCh37)
Canonical SPDI:: NC_000011.10:56093831:T:A
Gene:: OR8I2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56093832T>A, NC_000011.9:g.55861308T>A, NM_001003750.1:c.525T>A, NP_001003750.1:p.His175Gln

Select item 148204566212.

rs1482045662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:56093001 (GRCh38)
11:55860477 (GRCh37)
Canonical SPDI:: NC_000011.10:56093000:G:C
Gene:: OR8I2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000036/5 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000011.10:g.56093001G>C, NC_000011.9:g.55860477G>C

Select item 148142174113.

rs1481421741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:56093914 (GRCh38)
11:55861390 (GRCh37)
Canonical SPDI:: NC_000011.10:56093913:G:A,NC_000011.10:56093913:G:T
Gene:: OR8I2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.56093914G>A, NC_000011.10:g.56093914G>T, NC_000011.9:g.55861390G>A, NC_000011.9:g.55861390G>T, NM_001003750.1:c.607G>A, NM_001003750.1:c.607G>T, NP_001003750.1:p.Gly203Arg, NP_001003750.1:p.Gly203Ter

Select item 147985300014.

rs1479853000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:56091818 (GRCh38)
11:55859294 (GRCh37)
Canonical SPDI:: NC_000011.10:56091817:G:A
Gene:: OR8I2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.56091818G>A, NC_000011.9:g.55859294G>A

Select item 147978812415.

rs1479788124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:56093668 (GRCh38)
11:55861144 (GRCh37)
Canonical SPDI:: NC_000011.10:56093667:A:G
Gene:: OR8I2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56093668A>G, NC_000011.9:g.55861144A>G, NM_001003750.1:c.361A>G, NP_001003750.1:p.Asn121Asp

Select item 147898530616.

rs1478985306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:56093166 (GRCh38)
11:55860642 (GRCh37)
Canonical SPDI:: NC_000011.10:56093165:C:T
Gene:: OR8I2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.56093166C>T, NC_000011.9:g.55860642C>T

Select item 147807658417.

rs1478076584 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:56091348 (GRCh38)
11:55858824 (GRCh37)
Canonical SPDI:: NC_000011.10:56091347:A:G
Gene:: OR8I2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.56091348A>G, NC_000011.9:g.55858824A>G

Select item 147560970618.

rs1475609706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:56093294 (GRCh38)
11:55860770 (GRCh37)
Canonical SPDI:: NC_000011.10:56093293:C:G,NC_000011.10:56093293:C:T
Gene:: OR8I2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.56093294C>G, NC_000011.10:g.56093294C>T, NC_000011.9:g.55860770C>G, NC_000011.9:g.55860770C>T

Select item 147506016119.

rs1475060161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:56091455 (GRCh38)
11:55858931 (GRCh37)
Canonical SPDI:: NC_000011.10:56091454:T:A
Gene:: OR8I2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000142/2 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.56091455T>A, NC_000011.9:g.55858931T>A

Select item 147475654020.

rs1474756540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:56094276 (GRCh38)
11:55861752 (GRCh37)
Canonical SPDI:: NC_000011.10:56094275:A:G
Gene:: OR8I2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.56094276A>G, NC_000011.9:g.55861752A>G

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