OR1N2 - SNP

Search results

Items: 1 to 20 of 1579

<< First< Prev

Page of 79

Next >Last >>

Select item 1142387651.

rs114238765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:122553584 (GRCh38)
9:125315863 (GRCh37)
Canonical SPDI:: NC_000009.12:122553583:C:G,NC_000009.12:122553583:C:T
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000773/161 (ALFA)
T=0.000035/1 (TOMMO)
T=0.001873/1 (MGP)
T=0.002476/621 (GnomAD_exomes)
T=0.003156/383 (ExAC)
T=0.010046/1408 (GnomAD)
T=0.012071/157 (GoESP)
T=0.012961/65 (1000Genomes)
T=0.015162/1193 (PAGE_STUDY)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000009.12:g.122553584C>G, NC_000009.12:g.122553584C>T, NC_000009.11:g.125315863C>G, NC_000009.11:g.125315863C>T, NM_001004457.2:c.373C>G, NM_001004457.2:c.373C>T, NM_001004457.1:c.415C>G, NM_001004457.1:c.415C>T, NP_001004457.2:p.Arg125Gly, NP_001004457.2:p.Arg125Cys

Select item 11049072.

rs1104907 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 9:122551292 (GRCh38)
9:125313571 (GRCh37)
Canonical SPDI:: NC_000009.12:122551291:T:A,NC_000009.12:122551291:T:C,NC_000009.12:122551291:T:G
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.186809/4801 (ALFA)
C=0.191667/115 (NorthernSweden)
C=0.200401/200 (GoNL)
C=0.217907/808 (TWINSUK)
C=0.21942/983 (Estonian)
C=0.225/9 (GENOME_DK)
C=0.226518/873 (ALSPAC)
C=0.277778/60 (Qatari)
C=0.310718/82244 (TOPMED)
T=0.348837/120 (SGDP_PRJ)
C=0.380075/1903 (1000Genomes)
T=0.4/12 (Siberian)
C=0.457143/96 (Vietnamese)
T=0.467918/1371 (KOREAN)
C=0.488393/8185 (TOMMO)
T=0.492358/902 (Korea1K)
HGVS:: NC_000009.12:g.122551292T>A, NC_000009.12:g.122551292T>C, NC_000009.12:g.122551292T>G, NC_000009.11:g.125313571T>A, NC_000009.11:g.125313571T>C, NC_000009.11:g.125313571T>G

Select item 13410423.

rs1341042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:122553754 (GRCh38)
9:125316033 (GRCh37)
Canonical SPDI:: NC_000009.12:122553753:T:C
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.494484/26267 (ALFA)
T=0.270833/13 (Siberian)
T=0.271552/126 (SGDP_PRJ)
T=0.367235/1076 (KOREAN)
T=0.398472/730 (Korea1K)
C=0.403333/242 (NorthernSweden)
T=0.420412/7046 (TOMMO)
C=0.432589/1938 (Estonian)
T=0.440037/2204 (1000Genomes)
C=0.445892/445 (GoNL)
T=0.453871/856 (HapMap)
T=0.462658/122461 (TOPMED)
C=0.466887/141 (FINRISK)
C=0.475/19 (GENOME_DK)
C=0.47561/1833 (ALSPAC)
T=0.476852/103 (Qatari)
T=0.476922/66564 (GnomAD)
C=0.480043/1780 (TWINSUK)
T=0.480112/120413 (GnomAD_exomes)
T=0.481701/6265 (GoESP)
T=0.483029/58605 (ExAC)
T=0.5/267 (MGP)
HGVS:: NC_000009.12:g.122553754T>C, NC_000009.11:g.125316033T>C, NM_001004457.2:c.543T>C, NM_001004457.1:c.585T>C

Select item 13410434.

rs1341043 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:122553763 (GRCh38)
9:125316042 (GRCh37)
Canonical SPDI:: NC_000009.12:122553762:T:C,NC_000009.12:122553762:T:G
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.498334/90624 (ALFA)
T=0.270833/13 (Siberian)
T=0.271552/126 (SGDP_PRJ)
T=0.367918/1078 (KOREAN)
T=0.399017/731 (Korea1K)
C=0.403333/242 (NorthernSweden)
T=0.420447/7047 (TOMMO)
C=0.432589/1938 (Estonian)
T=0.440037/2204 (1000Genomes)
C=0.445892/445 (GoNL)
T=0.453439/857 (HapMap)
T=0.462651/122459 (TOPMED)
C=0.470395/143 (FINRISK)
C=0.475/19 (GENOME_DK)
C=0.475869/1834 (ALSPAC)
T=0.476852/103 (Qatari)
T=0.476899/66577 (GnomAD)
C=0.479234/1777 (TWINSUK)
T=0.48006/120424 (GnomAD_exomes)
T=0.481701/6265 (GoESP)
T=0.483038/58607 (ExAC)
T=0.488764/261 (MGP)
HGVS:: NC_000009.12:g.122553763T>C, NC_000009.12:g.122553763T>G, NC_000009.11:g.125316042T>C, NC_000009.11:g.125316042T>G, NM_001004457.2:c.552T>C, NM_001004457.2:c.552T>G, NM_001004457.1:c.594T>C, NM_001004457.1:c.594T>G

Select item 13410445.

rs1341044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 9:122553900 (GRCh38)
9:125316179 (GRCh37)
Canonical SPDI:: NC_000009.12:122553899:T:A,NC_000009.12:122553899:T:G
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.277498/99650 (ALFA)
T=0.000955/16 (TOMMO)
T=0.002729/5 (Korea1K)
T=0.00273/8 (KOREAN)
T=0.004886/3 (Vietnamese)
T=0.010101/8 (PRJEB37584)
T=0.106618/58 (SGDP_PRJ)
T=0.159216/12530 (PAGE_STUDY)
T=0.160749/335 (HGDP_Stanford)
T=0.162037/35 (Qatari)
T=0.168176/842 (1000Genomes)
T=0.172414/10 (PRJEB36033)
T=0.174392/301 (HapMap)
T=0.185185/10 (Siberian)
T=0.191358/217 (Daghestan)
T=0.225543/59699 (TOPMED)
T=0.242689/33976 (GnomAD)
T=0.243429/61167 (GnomAD_exomes)
T=0.245213/29764 (ExAC)
T=0.249885/3250 (GoESP)
T=0.2603/139 (MGP)
T=0.304619/1174 (ALSPAC)
T=0.309061/1146 (TWINSUK)
T=0.315789/96 (FINRISK)
T=0.345691/345 (GoNL)
T=0.35/14 (GENOME_DK)
T=0.377902/1693 (Estonian)
T=0.435/261 (NorthernSweden)
HGVS:: NC_000009.12:g.122553900T>A, NC_000009.12:g.122553900T>G, NC_000009.11:g.125316179T>A, NC_000009.11:g.125316179T>G, NM_001004457.2:c.689T>A, NM_001004457.2:c.689T>G, NM_001004457.1:c.731T>A, NM_001004457.1:c.731T>G, NP_001004457.2:p.Val230Asp, NP_001004457.2:p.Val230Gly

Select item 14112706.

rs1411270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:122553139 (GRCh38)
9:125315418 (GRCh37)
Canonical SPDI:: NC_000009.12:122553138:G:C
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.26282/7329 (ALFA)
C=0.191667/115 (NorthernSweden)
C=0.200401/200 (GoNL)
C=0.217228/116 (MGP)
C=0.218177/809 (TWINSUK)
C=0.21875/980 (Estonian)
C=0.225/9 (GENOME_DK)
C=0.226258/872 (ALSPAC)
C=0.277778/60 (Qatari)
C=0.284066/3694 (GoESP)
C=0.292763/89 (FINRISK)
C=0.296393/41453 (GnomAD)
C=0.306775/34333 (ExAC)
C=0.308806/65032 (GnomAD_exomes)
C=0.310556/82201 (TOPMED)
C=0.348233/335 (HapMap)
G=0.349711/121 (SGDP_PRJ)
C=0.378982/1898 (1000Genomes)
G=0.4/12 (Siberian)
G=0.471672/1382 (KOREAN)
C=0.476415/101 (Vietnamese)
C=0.487968/8178 (TOMMO)
G=0.495633/908 (Korea1K)
HGVS:: NC_000009.12:g.122553139G>C, NC_000009.11:g.125315418G>C, NM_001004457.2:c.-73G>C

Select item 14112717.

rs1411271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:122553499 (GRCh38)
9:125315778 (GRCh37)
Canonical SPDI:: NC_000009.12:122553498:G:A,NC_000009.12:122553498:G:C
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.457021/18949 (ALFA)
G=0.270833/13 (Siberian)
G=0.273707/127 (SGDP_PRJ)
G=0.310458/190 (Vietnamese)
G=0.36314/1064 (KOREAN)
G=0.394651/723 (Korea1K)
C=0.405/243 (NorthernSweden)
G=0.41935/7028 (TOMMO)
C=0.433705/1943 (Estonian)
G=0.439257/2200 (1000Genomes)
C=0.44489/444 (GoNL)
G=0.45296/857 (HapMap)
G=0.462541/122430 (TOPMED)
C=0.470395/143 (FINRISK)
C=0.475/19 (GENOME_DK)
G=0.476852/103 (Qatari)
C=0.477686/1841 (ALSPAC)
C=0.478695/1775 (TWINSUK)
G=0.481273/257 (MGP)
G=0.481778/6266 (GoESP)
HGVS:: NC_000009.12:g.122553499G>A, NC_000009.12:g.122553499G>C, NC_000009.11:g.125315778G>A, NC_000009.11:g.125315778G>C, NM_001004457.2:c.288G>A, NM_001004457.2:c.288G>C, NM_001004457.1:c.330G>A, NM_001004457.1:c.330G>C

Select item 14112728.

rs1411272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:122554071 (GRCh38)
9:125316350 (GRCh37)
Canonical SPDI:: NC_000009.12:122554070:C:A,NC_000009.12:122554070:C:T
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.457333/160317 (ALFA)
C=0.25431/118 (SGDP_PRJ)
C=0.270833/13 (Siberian)
C=0.300987/183 (Vietnamese)
C=0.310127/245 (PRJEB37584)
C=0.365188/1070 (KOREAN)
C=0.375/81 (Qatari)
C=0.391154/30783 (PAGE_STUDY)
C=0.393559/721 (Korea1K)
C=0.394332/821 (HGDP_Stanford)
C=0.408651/2047 (1000Genomes)
C=0.417989/474 (Daghestan)
C=0.419672/111083 (TOPMED)
C=0.421544/7065 (TOMMO)
C=0.422751/799 (HapMap)
C=0.430464/130 (FINRISK)
C=0.432584/231 (MGP)
C=0.434264/109016 (GnomAD_exomes)
C=0.435953/5670 (GoESP)
C=0.437813/53112 (ExAC)
T=0.466667/280 (NorthernSweden)
C=0.472222/1751 (TWINSUK)
C=0.472222/34 (PRJEB36033)
C=0.474053/1827 (ALSPAC)
T=0.47495/474 (GoNL)
T=0.475/19 (GENOME_DK)
T=0.489509/2193 (Estonian)
HGVS:: NC_000009.12:g.122554071C>A, NC_000009.12:g.122554071C>T, NC_000009.11:g.125316350C>A, NC_000009.11:g.125316350C>T, NM_001004457.2:c.860C>A, NM_001004457.2:c.860C>T, NM_001004457.1:c.902C>A, NM_001004457.1:c.902C>T, NP_001004457.2:p.Thr287Lys, NP_001004457.2:p.Thr287Met

LitVar

Select item 18069989.

rs1806998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:122551130 (GRCh38)
9:125313409 (GRCh37)
Canonical SPDI:: NC_000009.12:122551129:C:A,NC_000009.12:122551129:C:T
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.258139/4155 (ALFA)
T=0.191667/115 (NorthernSweden)
T=0.200401/200 (GoNL)
T=0.217907/808 (TWINSUK)
T=0.219196/982 (Estonian)
T=0.225/9 (GENOME_DK)
T=0.226518/873 (ALSPAC)
T=0.277778/60 (Qatari)
T=0.296583/41470 (GnomAD)
T=0.310733/82248 (TOPMED)
C=0.348837/120 (SGDP_PRJ)
T=0.380075/1903 (1000Genomes)
C=0.4/12 (Siberian)
C=0.467918/1371 (KOREAN)
T=0.481132/102 (Vietnamese)
T=0.488357/8185 (TOMMO)
C=0.492358/902 (Korea1K)
HGVS:: NC_000009.12:g.122551130C>A, NC_000009.12:g.122551130C>T, NC_000009.11:g.125313409C>A, NC_000009.11:g.125313409C>T

Select item 183136910.

rs1831369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:122553263 (GRCh38)
9:125315542 (GRCh37)
Canonical SPDI:: NC_000009.12:122553262:C:A,NC_000009.12:122553262:C:G,NC_000009.12:122553262:C:T
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.246111/84017 (ALFA)
G=0./0 (KOREAN)
T=0.173913/16 (PRJEB36033)
T=0.191667/115 (NorthernSweden)
T=0.200401/200 (GoNL)
T=0.216559/803 (TWINSUK)
T=0.21875/980 (Estonian)
T=0.225/9 (GENOME_DK)
T=0.225999/871 (ALSPAC)
T=0.230337/123 (MGP)
T=0.277778/60 (Qatari)
T=0.284407/3699 (GoESP)
T=0.292763/89 (FINRISK)
T=0.296302/41468 (GnomAD)
T=0.308646/37424 (ExAC)
T=0.310597/82212 (TOPMED)
T=0.315331/79131 (GnomAD_exomes)
C=0.348837/120 (SGDP_PRJ)
T=0.36455/689 (HapMap)
T=0.378982/1898 (1000Genomes)
T=0.381996/30060 (PAGE_STUDY)
T=0.392514/818 (HGDP_Stanford)
C=0.4/12 (Siberian)
C=0.443038/350 (PRJEB37584)
C=0.464812/284 (Vietnamese)
T=0.487933/8178 (TOMMO)
C=0.495633/908 (Korea1K)
HGVS:: NC_000009.12:g.122553263C>A, NC_000009.12:g.122553263C>G, NC_000009.12:g.122553263C>T, NC_000009.11:g.125315542C>A, NC_000009.11:g.125315542C>G, NC_000009.11:g.125315542C>T, NM_001004457.2:c.52C>A, NM_001004457.2:c.52C>G, NM_001004457.2:c.52C>T, NM_001004457.1:c.94C>A, NM_001004457.1:c.94C>G, NM_001004457.1:c.94C>T, NP_001004457.2:p.Leu18Ile, NP_001004457.2:p.Leu18Val

Select item 183137011.

rs1831370 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:122553278 (GRCh38)
9:125315557 (GRCh37)
Canonical SPDI:: NC_000009.12:122553277:T:A,NC_000009.12:122553277:T:C
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.494951/171743 (ALFA)
T=0.270833/13 (Siberian)
T=0.271552/126 (SGDP_PRJ)
T=0.309446/190 (Vietnamese)
T=0.368601/1080 (KOREAN)
T=0.39738/728 (Korea1K)
C=0.405/243 (NorthernSweden)
T=0.412584/859 (HGDP_Stanford)
T=0.413043/38 (PRJEB36033)
T=0.419527/7031 (TOMMO)
T=0.424619/33415 (PAGE_STUDY)
C=0.433482/1942 (Estonian)
T=0.440506/2206 (1000Genomes)
C=0.44489/444 (GoNL)
T=0.458555/863 (HapMap)
T=0.462711/122475 (TOPMED)
C=0.470395/143 (FINRISK)
C=0.475/19 (GENOME_DK)
T=0.47514/66455 (GnomAD)
C=0.475869/1834 (ALSPAC)
T=0.476852/103 (Qatari)
T=0.476991/539 (Daghestan)
C=0.477077/1769 (TWINSUK)
T=0.479891/120418 (GnomAD_exomes)
T=0.481778/6266 (GoESP)
T=0.482743/58521 (ExAC)
T=0.485019/259 (MGP)
HGVS:: NC_000009.12:g.122553278T>A, NC_000009.12:g.122553278T>C, NC_000009.11:g.125315557T>A, NC_000009.11:g.125315557T>C, NM_001004457.2:c.67T>A, NM_001004457.2:c.67T>C, NM_001004457.1:c.109T>A, NM_001004457.1:c.109T>C, NP_001004457.2:p.Trp23Arg, NP_001004457.2:p.Trp23Arg

Select item 241687212.

rs2416872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:122551829 (GRCh38)
9:125314108 (GRCh37)
Canonical SPDI:: NC_000009.12:122551828:C:G,NC_000009.12:122551828:C:T
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.251865/17830 (ALFA)
T=0.097561/8 (PRJEB36033)
T=0.191667/115 (NorthernSweden)
T=0.200401/200 (GoNL)
T=0.217368/806 (TWINSUK)
T=0.21942/983 (Estonian)
T=0.225/9 (GENOME_DK)
T=0.225999/871 (ALSPAC)
T=0.277778/60 (Qatari)
T=0.296777/41474 (GnomAD)
T=0.308099/350 (Daghestan)
T=0.310745/82251 (TOPMED)
C=0.348837/120 (SGDP_PRJ)
T=0.366138/692 (HapMap)
T=0.380075/1903 (1000Genomes)
T=0.393954/821 (HGDP_Stanford)
C=0.4/12 (Siberian)
C=0.467918/1371 (KOREAN)
T=0.485714/102 (Vietnamese)
T=0.488357/8185 (TOMMO)
C=0.492358/902 (Korea1K)
HGVS:: NC_000009.12:g.122551829C>G, NC_000009.12:g.122551829C>T, NC_000009.11:g.125314108C>G, NC_000009.11:g.125314108C>T

Select item 241687313.

rs2416873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:122552077 (GRCh38)
9:125314356 (GRCh37)
Canonical SPDI:: NC_000009.12:122552076:T:A
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.455771/7440 (ALFA)
T=0.014694/246 (TOMMO)
T=0.209864/1051 (1000Genomes)
T=0.307252/39142 (GnomAD)
T=0.364846/1069 (KOREAN)
T=0.414179/222 (SGDP_PRJ)
T=0.416667/90 (Qatari)
T=0.434783/20 (Siberian)
A=0.491667/295 (NorthernSweden)
HGVS:: NC_000009.12:g.122552077T>A, NC_000009.11:g.125314356T>A

Select item 241687414.

rs2416874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:122552086 (GRCh38)
9:125314365 (GRCh37)
Canonical SPDI:: NC_000009.12:122552085:C:G,NC_000009.12:122552085:C:T
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.237162/3727 (ALFA)
G=0.186667/112 (NorthernSweden)
G=0.233333/28 (HapMap)
G=0.277778/60 (Qatari)
G=0.291984/40372 (GnomAD)
G=0.381589/1911 (1000Genomes)
G=0.381868/29982 (PAGE_STUDY)
G=0.395904/1160 (KOREAN)
G=0.481441/882 (Korea1K)
G=0.486478/8153 (TOMMO)
C=0.494186/170 (SGDP_PRJ)
C=0.5/15 (Siberian)
HGVS:: NC_000009.12:g.122552086C>G, NC_000009.12:g.122552086C>T, NC_000009.11:g.125314365C>G, NC_000009.11:g.125314365C>T

Select item 241687515.

rs2416875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:122552121 (GRCh38)
9:125314400 (GRCh37)
Canonical SPDI:: NC_000009.12:122552120:T:A,NC_000009.12:122552120:T:C
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.495733/99805 (ALFA)
T=0.270833/13 (Siberian)
T=0.271552/126 (SGDP_PRJ)
T=0.364164/1067 (KOREAN)
T=0.373832/80 (Vietnamese)
T=0.394105/722 (Korea1K)
C=0.405/243 (NorthernSweden)
T=0.411623/857 (HGDP_Stanford)
T=0.419775/7035 (TOMMO)
C=0.432366/1937 (Estonian)
C=0.432432/32 (PRJEB36033)
T=0.439569/2201 (1000Genomes)
C=0.44489/444 (GoNL)
T=0.455556/861 (HapMap)
T=0.462549/122432 (TOPMED)
C=0.475/19 (GENOME_DK)
T=0.475159/66182 (GnomAD)
C=0.47561/1833 (ALSPAC)
C=0.476537/1767 (TWINSUK)
T=0.476852/103 (Qatari)
HGVS:: NC_000009.12:g.122552121T>A, NC_000009.12:g.122552121T>C, NC_000009.11:g.125314400T>A, NC_000009.11:g.125314400T>C

Select item 398386816.

rs3983868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:122551745 (GRCh38)
9:125314024 (GRCh37)
Canonical SPDI:: NC_000009.12:122551744:C:A,NC_000009.12:122551744:C:T
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.246136/43603 (ALFA)
T=0.113636/10 (PRJEB36033)
T=0.191667/115 (NorthernSweden)
T=0.200401/200 (GoNL)
T=0.217907/808 (TWINSUK)
T=0.21942/983 (Estonian)
T=0.226518/873 (ALSPAC)
T=0.277778/60 (Qatari)
T=0.296281/41426 (GnomAD)
T=0.310431/82168 (TOPMED)
C=0.351744/121 (SGDP_PRJ)
T=0.361229/682 (HapMap)
T=0.380075/1903 (1000Genomes)
T=0.392994/819 (HGDP_Stanford)
C=0.4/12 (Siberian)
C=0.468259/1372 (KOREAN)
T=0.488357/8185 (TOMMO)
C=0.492358/902 (Korea1K)
HGVS:: NC_000009.12:g.122551745C>A, NC_000009.12:g.122551745C>T, NC_000009.11:g.125314024C>A, NC_000009.11:g.125314024C>T

Select item 398386917.

rs3983869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:122551812 (GRCh38)
9:125314091 (GRCh37)
Canonical SPDI:: NC_000009.12:122551811:T:A,NC_000009.12:122551811:T:C
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.264955/5005 (ALFA)
C=0.191667/115 (NorthernSweden)
C=0.200401/200 (GoNL)
C=0.217098/805 (TWINSUK)
C=0.21942/983 (Estonian)
C=0.225/9 (GENOME_DK)
C=0.225999/871 (ALSPAC)
C=0.277778/60 (Qatari)
C=0.296499/41463 (GnomAD)
C=0.310718/82244 (TOPMED)
T=0.348837/120 (SGDP_PRJ)
C=0.380075/1903 (1000Genomes)
T=0.4/12 (Siberian)
T=0.468601/1373 (KOREAN)
C=0.485714/102 (Vietnamese)
C=0.488357/8185 (TOMMO)
T=0.492358/902 (Korea1K)
HGVS:: NC_000009.12:g.122551812T>A, NC_000009.12:g.122551812T>C, NC_000009.11:g.125314091T>A, NC_000009.11:g.125314091T>C

Select item 398387018.

rs3983870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:122552079 (GRCh38)
9:125314358 (GRCh37)
Canonical SPDI:: NC_000009.12:122552078:T:A
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.451856/7377 (ALFA)
T=0.009489/159 (TOMMO)
T=0.010371/19 (Korea1K)
T=0.209864/1051 (1000Genomes)
T=0.29677/37859 (GnomAD)
T=0.324915/952 (KOREAN)
T=0.391791/210 (SGDP_PRJ)
T=0.402778/87 (Qatari)
T=0.42/21 (Siberian)
T=0.496667/298 (NorthernSweden)
HGVS:: NC_000009.12:g.122552079T>A, NC_000009.11:g.125314358T>A

Select item 590053219.

rs5900532 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 9:122552050 (GRCh38)
9:125314329 (GRCh37)
Canonical SPDI:: NC_000009.12:122552036:ACACACACACACACACA:ACACACACACACA,NC_000009.12:122552036:ACACACACACACACACA:ACACACACACACACA,NC_000009.12:122552036:ACACACACACACACACA:ACACACACACACACACACA,NC_000009.12:122552036:ACACACACACACACACA:ACACACACACACACACACACA,NC_000009.12:122552036:ACACACACACACACACA:ACACACACACACACACACACACA
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.2424/1076 (1000Genomes)
HGVS:: NC_000009.12:g.122552038CA[6], NC_000009.12:g.122552038CA[7], NC_000009.12:g.122552038CA[9], NC_000009.12:g.122552038CA[10], NC_000009.12:g.122552038CA[11], NC_000009.11:g.125314317CA[6], NC_000009.11:g.125314317CA[7], NC_000009.11:g.125314317CA[9], NC_000009.11:g.125314317CA[10], NC_000009.11:g.125314317CA[11]

Select item 647856820.

rs6478568 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:122552676 (GRCh38)
9:125314955 (GRCh37)
Canonical SPDI:: NC_000009.12:122552675:A:G,NC_000009.12:122552675:A:T
Gene:: OR1J2 (Varview), OR1L8 (Varview), OR1N2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.335704/27184 (ALFA)
A=0./0 (Vietnamese)
A=0.004176/70 (TOMMO)
A=0.008191/24 (KOREAN)
A=0.009279/17 (Korea1K)
A=0.123134/66 (SGDP_PRJ)
A=0.185185/10 (Siberian)
A=0.191459/399 (HGDP_Stanford)
A=0.19558/354 (HapMap)
A=0.19722/988 (1000Genomes)
A=0.243243/18 (PRJEB36033)
A=0.252641/287 (Daghestan)
A=0.26638/70508 (TOPMED)
A=0.273148/59 (Qatari)
A=0.29216/40754 (GnomAD)
A=0.35/14 (GENOME_DK)
A=0.354177/1365 (ALSPAC)
A=0.359223/1332 (TWINSUK)
A=0.378758/378 (GoNL)
A=0.433705/1943 (Estonian)
A=0.496667/298 (NorthernSweden)
HGVS:: NC_000009.12:g.122552676A>G, NC_000009.12:g.122552676A>T, NC_000009.11:g.125314955A>G, NC_000009.11:g.125314955A>T

<< First< Prev

Page of 79

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 1 to 20 of 1579

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity