SNP Links for Gene (Select 81466) - SNP

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Links from Gene

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Select item 14873042121.

rs1487304212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:248022706 (GRCh38)
1:248186008 (GRCh37)
Canonical SPDI:: NC_000001.11:248022705:C:G,NC_000001.11:248022705:C:T
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.248022706C>G, NC_000001.11:g.248022706C>T, NC_000001.10:g.248186008C>G, NC_000001.10:g.248186008C>T, NM_001258284.2:c.759C>G, NM_001258284.2:c.759C>T, NM_001258284.1:c.759C>G, NM_001258284.1:c.759C>T

Select item 14867178772.

rs1486717877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:248021622 (GRCh38)
1:248184924 (GRCh37)
Canonical SPDI:: NC_000001.11:248021621:G:A
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.248021622G>A, NC_000001.10:g.248184924G>A

Select item 14862520843.

rs1486252084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248020759 (GRCh38)
1:248184061 (GRCh37)
Canonical SPDI:: NC_000001.11:248020758:T:C
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.248020759T>C, NC_000001.10:g.248184061T>C

Select item 14855438524.

rs1485543852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248020826 (GRCh38)
1:248184128 (GRCh37)
Canonical SPDI:: NC_000001.11:248020825:T:C
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000001.11:g.248020826T>C, NC_000001.10:g.248184128T>C

Select item 14812751555.

rs1481275155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:248020451 (GRCh38)
1:248183753 (GRCh37)
Canonical SPDI:: NC_000001.11:248020450:C:T
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.248020451C>T, NC_000001.10:g.248183753C>T

Select item 14804771376.

rs1480477137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248021997 (GRCh38)
1:248185299 (GRCh37)
Canonical SPDI:: NC_000001.11:248021996:T:C
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000001.11:g.248021997T>C, NC_000001.10:g.248185299T>C, NM_001258284.2:c.50T>C, NM_001258284.1:c.50T>C, NP_001245213.1:p.Phe17Ser

Select item 14801036577.

rs1480103657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:248021125 (GRCh38)
1:248184427 (GRCh37)
Canonical SPDI:: NC_000001.11:248021124:A:T
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.248021125A>T, NC_000001.10:g.248184427A>T

Select item 14796702758.

rs1479670275 has merged into rs1178215880 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:248023320 (GRCh38)
1:248186622 (GRCh37)
Canonical SPDI:: NC_000001.11:248023319:TTTTT:TTTT,NC_000001.11:248023319:TTTTT:TTTTTT
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.248023324del, NC_000001.11:g.248023324dup, NC_000001.10:g.248186626del, NC_000001.10:g.248186626dup, NM_001258284.2:c.*438del, NM_001258284.2:c.*438dup

Select item 14788615359.

rs1478861535 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248023216 (GRCh38)
1:248186518 (GRCh37)
Canonical SPDI:: NC_000001.11:248023215:T:C
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,3_prime_UTR_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_000001.11:g.248023216T>C, NC_000001.10:g.248186518T>C, NM_001258284.2:c.*330T>C

Select item 147731879710.

rs1477318797 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:248022001 (GRCh38)
1:248185303 (GRCh37)
Canonical SPDI:: NC_000001.11:248022000:A:G
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.248022001A>G, NC_000001.10:g.248185303A>G, NM_001258284.2:c.54A>G, NM_001258284.1:c.54A>G

Select item 147707496611.

rs1477074966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:248022632 (GRCh38)
1:248185934 (GRCh37)
Canonical SPDI:: NC_000001.11:248022631:T:G
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.248022632T>G, NC_000001.10:g.248185934T>G, NM_001258284.2:c.685T>G, NM_001258284.1:c.685T>G, NP_001245213.1:p.Ser229Ala

Select item 147415915412.

rs1474159154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:248021364 (GRCh38)
1:248184666 (GRCh37)
Canonical SPDI:: NC_000001.11:248021363:A:G
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.248021364A>G, NC_000001.10:g.248184666A>G

Select item 147400318213.

rs1474003182 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:248022009 (GRCh38)
1:248185311 (GRCh37)
Canonical SPDI:: NC_000001.11:248022008:A:G
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.248022009A>G, NC_000001.10:g.248185311A>G, NM_001258284.2:c.62A>G, NM_001258284.1:c.62A>G, NP_001245213.1:p.Lys21Arg

Select item 147360624814.

rs1473606248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:248020840 (GRCh38)
1:248184142 (GRCh37)
Canonical SPDI:: NC_000001.11:248020839:C:T
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.248020840C>T, NC_000001.10:g.248184142C>T

Select item 147286227615.

rs1472862276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248022940 (GRCh38)
1:248186242 (GRCh37)
Canonical SPDI:: NC_000001.11:248022939:T:C
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.248022940T>C, NC_000001.10:g.248186242T>C, NM_001258284.2:c.*54T>C

Select item 147220222416.

rs1472202224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:248022212 (GRCh38)
1:248185514 (GRCh37)
Canonical SPDI:: NC_000001.11:248022211:A:G
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.248022212A>G, NC_000001.10:g.248185514A>G, NM_001258284.2:c.265A>G, NM_001258284.1:c.265A>G, NP_001245213.1:p.Lys89Glu

Select item 147129638417.

rs1471296384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:248022218 (GRCh38)
1:248185520 (GRCh37)
Canonical SPDI:: NC_000001.11:248022217:A:G
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.248022218A>G, NC_000001.10:g.248185520A>G, NM_001258284.2:c.271A>G, NM_001258284.1:c.271A>G, NP_001245213.1:p.Ile91Val

Select item 147112087218.

rs1471120872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248022396 (GRCh38)
1:248185698 (GRCh37)
Canonical SPDI:: NC_000001.11:248022395:T:C
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000001.11:g.248022396T>C, NC_000001.10:g.248185698T>C, NM_001258284.2:c.449T>C, NM_001258284.1:c.449T>C, NP_001245213.1:p.Ile150Thr

Select item 146907304519.

rs1469073045 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248020918 (GRCh38)
1:248184220 (GRCh37)
Canonical SPDI:: NC_000001.11:248020917:T:C
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.248020918T>C, NC_000001.10:g.248184220T>C

Select item 146883484720.

rs1468834847 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248022725 (GRCh38)
1:248186027 (GRCh37)
Canonical SPDI:: NC_000001.11:248022724:T:C
Gene:: OR2L5 (Varview), OR2L13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.248022725T>C, NC_000001.10:g.248186027T>C, NM_001258284.2:c.778T>C, NM_001258284.1:c.778T>C, NP_001245213.1:p.Cys260Arg