SNP Links for Gene (Select 219952) - SNP

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Select item 14914308041.

rs1491430804 has merged into rs58928895 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:58029853 (GRCh38)
11:57797325 (GRCh37)
Canonical SPDI:: NC_000011.10:58029843:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:58029843:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:58029843:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:58029843:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:58029843:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:58029843:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:58029843:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:58029843:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:58029843:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:58029843:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:58029843:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:58029843:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1945/974 (1000Genomes)
HGVS:: NC_000011.10:g.58029853_58029859del, NC_000011.10:g.58029854_58029859del, NC_000011.10:g.58029856_58029859del, NC_000011.10:g.58029857_58029859del, NC_000011.10:g.58029858_58029859del, NC_000011.10:g.58029859del, NC_000011.10:g.58029859dup, NC_000011.10:g.58029858_58029859dup, NC_000011.10:g.58029857_58029859dup, NC_000011.10:g.58029856_58029859dup, NC_000011.10:g.58029855_58029859dup, NC_000011.10:g.58029854_58029859dup, NC_000011.9:g.57797325_57797331del, NC_000011.9:g.57797326_57797331del, NC_000011.9:g.57797328_57797331del, NC_000011.9:g.57797329_57797331del, NC_000011.9:g.57797330_57797331del, NC_000011.9:g.57797331del, NC_000011.9:g.57797331dup, NC_000011.9:g.57797330_57797331dup, NC_000011.9:g.57797329_57797331dup, NC_000011.9:g.57797328_57797331dup, NC_000011.9:g.57797327_57797331dup, NC_000011.9:g.57797326_57797331dup

Select item 14892895262.

rs1489289526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:58031761 (GRCh38)
11:57799233 (GRCh37)
Canonical SPDI:: NC_000011.10:58031760:C:T
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.58031761C>T, NC_000011.9:g.57799233C>T, NM_001005186.2:c.809C>T, NP_001005186.2:p.Ser270Phe

Select item 14885895353.

rs1488589535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:58030627 (GRCh38)
11:57798099 (GRCh37)
Canonical SPDI:: NC_000011.10:58030626:C:A
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.58030627C>A, NC_000011.9:g.57798099C>A

Select item 14884761424.

rs1488476142 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:58031716 (GRCh38)
11:57799188 (GRCh37)
Canonical SPDI:: NC_000011.10:58031715:T:A
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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.58031716T>A, NC_000011.9:g.57799188T>A, NM_001005186.2:c.764T>A, NP_001005186.2:p.Phe255Tyr

Select item 14874952555.

rs1487495255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:58032270 (GRCh38)
11:57799742 (GRCh37)
Canonical SPDI:: NC_000011.10:58032269:A:G
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.58032270A>G, NC_000011.9:g.57799742A>G

Select item 14871038086.

rs1487103808 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:58029020 (GRCh38)
11:57796492 (GRCh37)
Canonical SPDI:: NC_000011.10:58029019:A:C
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.58029020A>C, NC_000011.9:g.57796492A>C

Select item 14858554107.

rs1485855410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:58032203 (GRCh38)
11:57799675 (GRCh37)
Canonical SPDI:: NC_000011.10:58032202:A:C,NC_000011.10:58032202:A:G
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.58032203A>C, NC_000011.10:g.58032203A>G, NC_000011.9:g.57799675A>C, NC_000011.9:g.57799675A>G

Select item 14858274188.

rs1485827418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:58029668 (GRCh38)
11:57797140 (GRCh37)
Canonical SPDI:: NC_000011.10:58029667:T:C
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.58029668T>C, NC_000011.9:g.57797140T>C

Select item 14852107809.

rs1485210780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:58030749 (GRCh38)
11:57798221 (GRCh37)
Canonical SPDI:: NC_000011.10:58030748:G:A,NC_000011.10:58030748:G:T
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.58030749G>A, NC_000011.10:g.58030749G>T, NC_000011.9:g.57798221G>A, NC_000011.9:g.57798221G>T

Select item 148519155210.

rs1485191552 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:58031129 (GRCh38)
11:57798601 (GRCh37)
Canonical SPDI:: NC_000011.10:58031128:A:G
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.58031129A>G, NC_000011.9:g.57798601A>G, NM_001005186.2:c.177A>G

Select item 148474635511.

rs1484746355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:58032383 (GRCh38)
11:57799855 (GRCh37)
Canonical SPDI:: NC_000011.10:58032382:G:A
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000011.10:g.58032383G>A, NC_000011.9:g.57799855G>A

Select item 148359329812.

rs1483593298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:58032349 (GRCh38)
11:57799821 (GRCh37)
Canonical SPDI:: NC_000011.10:58032348:A:G
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.58032349A>G, NC_000011.9:g.57799821A>G

Select item 148196273613.

rs1481962736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:58031422 (GRCh38)
11:57798894 (GRCh37)
Canonical SPDI:: NC_000011.10:58031421:T:C
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.58031422T>C, NC_000011.9:g.57798894T>C, NM_001005186.2:c.470T>C, NP_001005186.2:p.Phe157Ser

Select item 148137167214.

rs1481371672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:58029867 (GRCh38)
11:57797339 (GRCh37)
Canonical SPDI:: NC_000011.10:58029866:A:T
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.58029867A>T, NC_000011.9:g.57797339A>T

Select item 147952931715.

rs1479529317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:58029800 (GRCh38)
11:57797272 (GRCh37)
Canonical SPDI:: NC_000011.10:58029799:C:T
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.58029800C>T, NC_000011.9:g.57797272C>T

Select item 147941812016.

rs1479418120 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:58030858 (GRCh38)
11:57798330 (GRCh37)
Canonical SPDI:: NC_000011.10:58030857:A:C,NC_000011.10:58030857:A:G
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.58030858A>C, NC_000011.10:g.58030858A>G, NC_000011.9:g.57798330A>C, NC_000011.9:g.57798330A>G

Select item 147904946117.

rs1479049461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:58030238 (GRCh38)
11:57797710 (GRCh37)
Canonical SPDI:: NC_000011.10:58030237:G:T
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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.58030238G>T, NC_000011.9:g.57797710G>T

Select item 147841421118.

rs1478414211 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:58031356 (GRCh38)
11:57798828 (GRCh37)
Canonical SPDI:: NC_000011.10:58031355:A:T
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.58031356A>T, NC_000011.9:g.57798828A>T, NM_001005186.2:c.404A>T, NP_001005186.2:p.His135Leu

Select item 147811978119.

rs1478119781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:58031820 (GRCh38)
11:57799292 (GRCh37)
Canonical SPDI:: NC_000011.10:58031819:A:G
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.58031820A>G, NC_000011.9:g.57799292A>G, NM_001005186.2:c.868A>G, NP_001005186.2:p.Asn290Asp

Select item 147806826620.

rs1478068266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:58030734 (GRCh38)
11:57798206 (GRCh37)
Canonical SPDI:: NC_000011.10:58030733:T:C
Gene:: OR6Q1 (Varview), OR9Q1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.58030734T>C, NC_000011.9:g.57798206T>C

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