SNP Links for Gene (Select 390061) - SNP

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Links from Gene

Items: 1 to 20 of 1110

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Select item 14901942981.

rs1490194298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:5423002 (GRCh38)
11:5444232 (GRCh37)
Canonical SPDI:: NC_000011.10:5423001:A:G
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.5423002A>G, NC_000011.9:g.5444232A>G, NM_001004757.2:c.802A>G, NP_001004757.1:p.Lys268Glu

Select item 14886726732.

rs1488672673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:5422182 (GRCh38)
11:5443412 (GRCh37)
Canonical SPDI:: NC_000011.10:5422181:G:T
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_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.5422182G>T, NC_000011.9:g.5443412G>T, NM_001004757.2:c.-19G>T

Select item 14880169253.

rs1488016925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:5421336 (GRCh38)
11:5442566 (GRCh37)
Canonical SPDI:: NC_000011.10:5421335:G:A,NC_000011.10:5421335:G:T
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.5421336G>A, NC_000011.10:g.5421336G>T, NC_000011.9:g.5442566G>A, NC_000011.9:g.5442566G>T

Select item 14875845374.

rs1487584537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:5422922 (GRCh38)
11:5444152 (GRCh37)
Canonical SPDI:: NC_000011.10:5422921:A:G
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000062/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.5422922A>G, NC_000011.9:g.5444152A>G, NM_001004757.2:c.722A>G, NP_001004757.1:p.Asn241Ser

Select item 14869706035.

rs1486970603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:5422405 (GRCh38)
11:5443635 (GRCh37)
Canonical SPDI:: NC_000011.10:5422404:G:A
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.5422405G>A, NC_000011.9:g.5443635G>A, NM_001004757.2:c.205G>A, NP_001004757.1:p.Ala69Thr

Select item 14865734146.

rs1486573414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:5423112 (GRCh38)
11:5444342 (GRCh37)
Canonical SPDI:: NC_000011.10:5423111:A:C
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.5423112A>C, NC_000011.9:g.5444342A>C, NM_001004757.2:c.912A>C

Select item 14863041527.

rs1486304152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:5420976 (GRCh38)
11:5442206 (GRCh37)
Canonical SPDI:: NC_000011.10:5420975:T:A
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.5420976T>A, NC_000011.9:g.5442206T>A

Select item 14862684838.

rs1486268483 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCTT>- [Show Flanks]
Chromosome:: 11:5421535 (GRCh38)
11:5442765 (GRCh37)
Canonical SPDI:: NC_000011.10:5421528:TCTCTTTCTCTT:TCTCTT
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTCTTTCTCTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.5421529TCTCTT[1], NC_000011.9:g.5442759TCTCTT[1]

Select item 14846048349.

rs1484604834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:5423101 (GRCh38)
11:5444331 (GRCh37)
Canonical SPDI:: NC_000011.10:5423100:A:T
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.5423101A>T, NC_000011.9:g.5444331A>T, NM_001004757.2:c.901A>T, NP_001004757.1:p.Ile301Phe

Select item 148432710510.

rs1484327105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:5421762 (GRCh38)
11:5442992 (GRCh37)
Canonical SPDI:: NC_000011.10:5421761:T:A
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.5421762T>A, NC_000011.9:g.5442992T>A

Select item 148430986911.

rs1484309869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:5422427 (GRCh38)
11:5443657 (GRCh37)
Canonical SPDI:: NC_000011.10:5422426:C:T
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.5422427C>T, NC_000011.9:g.5443657C>T, NM_001004757.2:c.227C>T, NP_001004757.1:p.Thr76Ile

Select item 148205027512.

rs1482050275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:5421346 (GRCh38)
11:5442576 (GRCh37)
Canonical SPDI:: NC_000011.10:5421345:G:A
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.5421346G>A, NC_000011.9:g.5442576G>A

Select item 147973570113.

rs1479735701 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:5423069 (GRCh38)
11:5444300 (GRCh37)
Canonical SPDI:: NC_000011.10:5423069:CCCC:CCCCC
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CCCCC=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.5423073dup, NC_000011.9:g.5444303dup, NM_001004757.2:c.873dup, NP_001004757.1:p.Ile292fs

Select item 147854371114.

rs1478543711 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:5421265 (GRCh38)
11:5442495 (GRCh37)
Canonical SPDI:: NC_000011.10:5421264:T:G
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_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.5421265T>G, NC_000011.9:g.5442495T>G

Select item 147821568015.

rs1478215680 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATTT>- [Show Flanks]
Chromosome:: 11:5420497 (GRCh38)
11:5441727 (GRCh37)
Canonical SPDI:: NC_000011.10:5420492:ATTTAATTT:ATTT
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTT=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.5420497_5420501del, NC_000011.9:g.5441727_5441731del

Select item 147779880016.

rs1477798800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:5422364 (GRCh38)
11:5443594 (GRCh37)
Canonical SPDI:: NC_000011.10:5422363:C:T
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.5422364C>T, NC_000011.9:g.5443594C>T, NM_001004757.2:c.164C>T, NP_001004757.1:p.Pro55Leu

Select item 147729244517.

rs1477292445 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:5422417 (GRCh38)
11:5443648 (GRCh37)
Canonical SPDI:: NC_000011.10:5422417:T:TT
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.5422418dup, NC_000011.9:g.5443648dup, NM_001004757.2:c.218dup, NP_001004757.1:p.Leu75fs

Select item 147583936418.

rs1475839364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:5421958 (GRCh38)
11:5443188 (GRCh37)
Canonical SPDI:: NC_000011.10:5421957:C:T
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_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.5421958C>T, NC_000011.9:g.5443188C>T

Select item 147578791619.

rs1475787916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:5421084 (GRCh38)
11:5442314 (GRCh37)
Canonical SPDI:: NC_000011.10:5421083:G:T
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.5421084G>T, NC_000011.9:g.5442314G>T

Select item 147507557820.

rs1475075578 [Homo sapiens]

Variant type:: DEL
Alleles:: AGT>- [Show Flanks]
Chromosome:: 11:5420387 (GRCh38)
11:5441617 (GRCh37)
Canonical SPDI:: NC_000011.10:5420386:AGT:
Gene:: OR51B5 (Varview), OR51Q1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.5420387_5420389del, NC_000011.9:g.5441617_5441619del

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