SNP Links for Gene (Select 138799) - SNP

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Select item 14912559461.

rs1491255946 has merged into rs10541505 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATGAATGAATG>-,AATG,AATGAATG,AATGAATGAATGAATG,AATGAATGAATGAATGAATG,AATGAATGAATGAATGAATGAATG [Show Flanks]
Chromosome:: 9:104599631 (GRCh38)
9:107361912 (GRCh37)
Canonical SPDI:: NC_000009.12:104599617:GAATGAATGAATGAATGAATGAATG:GAATGAATGAATG,NC_000009.12:104599617:GAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATG,NC_000009.12:104599617:GAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATG,NC_000009.12:104599617:GAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATG,NC_000009.12:104599617:GAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATGAATG,NC_000009.12:104599617:GAATGAATGAATGAATGAATGAATG:GAATGAATGAATGAATGAATGAATGAATGAATGAATG
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAATGAATGAATGAATG=0./0 (ALFA)
GAATGAATGAAT=0.00045/119 (TOPMED)
GAAT=0.450971/1789 (1000Genomes)
HGVS:: NC_000009.12:g.104599619AATG[3], NC_000009.12:g.104599619AATG[4], NC_000009.12:g.104599619AATG[5], NC_000009.12:g.104599619AATG[7], NC_000009.12:g.104599619AATG[8], NC_000009.12:g.104599619AATG[9], NC_000009.11:g.107361900AATG[3], NC_000009.11:g.107361900AATG[4], NC_000009.11:g.107361900AATG[5], NC_000009.11:g.107361900AATG[7], NC_000009.11:g.107361900AATG[8], NC_000009.11:g.107361900AATG[9]

Select item 14910859342.

rs1491085934 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 9:104599642 (GRCh38)
9:107361923 (GRCh37)
Canonical SPDI:: NC_000009.12:104599641:GG:
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.00003/4 (GnomAD)
HGVS:: NC_000009.12:g.104599642_104599643del, NC_000009.11:g.107361923_107361924del

Select item 14903955913.

rs1490395591 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:104600227 (GRCh38)
9:107362508 (GRCh37)
Canonical SPDI:: NC_000009.12:104600226:T:C
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.104600227T>C, NC_000009.11:g.107362508T>C

Select item 14889507124.

rs1488950712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:104600919 (GRCh38)
9:107363200 (GRCh37)
Canonical SPDI:: NC_000009.12:104600918:T:C
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000009.12:g.104600919T>C, NC_000009.11:g.107363200T>C

Select item 14883791055.

rs1488379105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:104600230 (GRCh38)
9:107362511 (GRCh37)
Canonical SPDI:: NC_000009.12:104600229:A:G
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000066/1 (ALFA)
G=0.000043/6 (GnomAD)
HGVS:: NC_000009.12:g.104600230A>G, NC_000009.11:g.107362511A>G

Select item 14879243406.

rs1487924340 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 9:104601058 (GRCh38)
9:107363339 (GRCh37)
Canonical SPDI:: NC_000009.12:104601057:TTTTTTT:TTTTTT,NC_000009.12:104601057:TTTTTTT:TTTTTTTT
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
T=0.000477/8 (TOMMO)
HGVS:: NC_000009.12:g.104601064del, NC_000009.12:g.104601064dup, NC_000009.11:g.107363345del, NC_000009.11:g.107363345dup

Select item 14843052967.

rs1484305296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:104599246 (GRCh38)
9:107361527 (GRCh37)
Canonical SPDI:: NC_000009.12:104599245:G:A
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.104599246G>A, NC_000009.11:g.107361527G>A, NM_001004482.1:c.168C>T

Select item 14836275858.

rs1483627585 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 9:104598666 (GRCh38)
9:107360948 (GRCh37)
Canonical SPDI:: NC_000009.12:104598666:TAT:TATAT
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency,by cluster
MAF:: TA=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.104598668_104598669dup, NC_000009.11:g.107360949_107360950dup, NM_001004482.1:c.746_747dup, NP_001004482.1:p.Thr250Ter

Select item 14820025629.

rs1482002562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:104598498 (GRCh38)
9:107360779 (GRCh37)
Canonical SPDI:: NC_000009.12:104598497:C:T
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.104598498C>T, NC_000009.11:g.107360779C>T, NM_001004482.1:c.916G>A, NP_001004482.1:p.Ala306Thr

Select item 148103568410.

rs1481035684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:104599935 (GRCh38)
9:107362216 (GRCh37)
Canonical SPDI:: NC_000009.12:104599934:C:G,NC_000009.12:104599934:C:T
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.104599935C>G, NC_000009.12:g.104599935C>T, NC_000009.11:g.107362216C>G, NC_000009.11:g.107362216C>T

Select item 148098422811.

rs1480984228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:104600881 (GRCh38)
9:107363162 (GRCh37)
Canonical SPDI:: NC_000009.12:104600880:C:T
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000046/5 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000009.12:g.104600881C>T, NC_000009.11:g.107363162C>T

Select item 148052734712.

rs1480527347 has merged into rs34635631 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTATTTATTTATTTATTTATTT>-,ATTT,ATTTATTT,ATTTATTTATTT,ATTTATTTATTTATTT,ATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTT,ATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT [Show Flanks]
Chromosome:: 9:104601205 (GRCh38)
9:107363486 (GRCh37)
Canonical SPDI:: NC_000009.12:104601187:TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TATTTATTTATTTATTT,NC_000009.12:104601187:TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TATTTATTTATTTATTTATTT,NC_000009.12:104601187:TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TATTTATTTATTTATTTATTTATTT,NC_000009.12:104601187:TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TATTTATTTATTTATTTATTTATTTATTT,NC_000009.12:104601187:TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TATTTATTTATTTATTTATTTATTTATTTATTT,NC_000009.12:104601187:TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000009.12:104601187:TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000009.12:104601187:TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000009.12:104601187:TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT,NC_000009.12:104601187:TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTTATTTATTTATTTATTTATTT=0./0 (ALFA)
TATTTATTTATTTATTTATT=0./0 (GENOME_DK)
HGVS:: NC_000009.12:g.104601189ATTT[4], NC_000009.12:g.104601189ATTT[5], NC_000009.12:g.104601189ATTT[6], NC_000009.12:g.104601189ATTT[7], NC_000009.12:g.104601189ATTT[8], NC_000009.12:g.104601189ATTT[9], NC_000009.12:g.104601189ATTT[11], NC_000009.12:g.104601189ATTT[12], NC_000009.12:g.104601189ATTT[13], NC_000009.12:g.104601189ATTT[14], NC_000009.11:g.107363470ATTT[4], NC_000009.11:g.107363470ATTT[5], NC_000009.11:g.107363470ATTT[6], NC_000009.11:g.107363470ATTT[7], NC_000009.11:g.107363470ATTT[8], NC_000009.11:g.107363470ATTT[9], NC_000009.11:g.107363470ATTT[11], NC_000009.11:g.107363470ATTT[12], NC_000009.11:g.107363470ATTT[13], NC_000009.11:g.107363470ATTT[14]

Select item 147996950413.

rs1479969504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:104601125 (GRCh38)
9:107363406 (GRCh37)
Canonical SPDI:: NC_000009.12:104601124:C:A,NC_000009.12:104601124:C:T
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000009.12:g.104601125C>A, NC_000009.12:g.104601125C>T, NC_000009.11:g.107363406C>A, NC_000009.11:g.107363406C>T

Select item 147990201714.

rs1479902017 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:104598561 (GRCh38)
9:107360842 (GRCh37)
Canonical SPDI:: NC_000009.12:104598560:T:C
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.104598561T>C, NC_000009.11:g.107360842T>C, NM_001004482.1:c.853A>G, NP_001004482.1:p.Arg285Gly

Select item 147935150715.

rs1479351507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:104600925 (GRCh38)
9:107363206 (GRCh37)
Canonical SPDI:: NC_000009.12:104600924:A:T
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.04502/534 (ALFA)
T=0.01664/212 (TOMMO)
T=0.19864/466 (KOREAN)
HGVS:: NC_000009.12:g.104600925A>T, NC_000009.11:g.107363206A>T

Select item 147662707916.

rs1476627079 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:104600677 (GRCh38)
9:107362958 (GRCh37)
Canonical SPDI:: NC_000009.12:104600676:T:C
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000009/1 (GnomAD)
HGVS:: NC_000009.12:g.104600677T>C, NC_000009.11:g.107362958T>C

Select item 147552918417.

rs1475529184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:104598084 (GRCh38)
9:107360365 (GRCh37)
Canonical SPDI:: NC_000009.12:104598083:C:G
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.104598084C>G, NC_000009.11:g.107360365C>G

Select item 147536571418.

rs1475365714 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:104600114 (GRCh38)
9:107362395 (GRCh37)
Canonical SPDI:: NC_000009.12:104600113:A:C
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000108/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.104600114A>C, NC_000009.11:g.107362395A>C

Select item 147338195919.

rs1473381959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:104599611 (GRCh38)
9:107361892 (GRCh37)
Canonical SPDI:: NC_000009.12:104599610:G:C
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000009/1 (GnomAD)
HGVS:: NC_000009.12:g.104599611G>C, NC_000009.11:g.107361892G>C

Select item 147312224720.

rs1473122247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:104599128 (GRCh38)
9:107361409 (GRCh37)
Canonical SPDI:: NC_000009.12:104599127:C:T
Gene:: OR13C5 (Varview), LOC107987105 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.104599128C>T, NC_000009.11:g.107361409C>T, NM_001004482.1:c.286G>A, NP_001004482.1:p.Gly96Ser

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