SNP Links for Protein (Select 52353332) - SNP

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Links from Protein

Items: 1 to 20 of 382

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Select item 14902606651.

rs1490260665 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:5489003 (GRCh38)
11:5510233 (GRCh37)
Canonical SPDI:: NC_000011.10:5489002:A:G
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.5489003A>G, NC_000011.9:g.5510233A>G, NM_001005163.2:c.297A>G

Select item 14782522962.

rs1478252296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:5489473 (GRCh38)
11:5510703 (GRCh37)
Canonical SPDI:: NC_000011.10:5489472:T:A
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.5489473T>A, NC_000011.9:g.5510703T>A, NM_001005163.2:c.767T>A, NP_001005163.1:p.Ile256Asn

Select item 14781618913.

rs1478161891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:5489366 (GRCh38)
11:5510596 (GRCh37)
Canonical SPDI:: NC_000011.10:5489365:C:G
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.5489366C>G, NC_000011.9:g.5510596C>G, NM_001005163.2:c.660C>G

Select item 14738359744.

rs1473835974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:5488842 (GRCh38)
11:5510072 (GRCh37)
Canonical SPDI:: NC_000011.10:5488841:G:T
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.5488842G>T, NC_000011.9:g.5510072G>T, NM_001005163.2:c.136G>T, NP_001005163.1:p.Ala46Ser

Select item 14709666665.

rs1470966666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:5489072 (GRCh38)
11:5510302 (GRCh37)
Canonical SPDI:: NC_000011.10:5489071:C:A,NC_000011.10:5489071:C:G
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.5489072C>A, NC_000011.10:g.5489072C>G, NC_000011.9:g.5510302C>A, NC_000011.9:g.5510302C>G, NM_001005163.2:c.366C>A, NM_001005163.2:c.366C>G

Select item 14679893856.

rs1467989385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:5488868 (GRCh38)
11:5510098 (GRCh37)
Canonical SPDI:: NC_000011.10:5488867:G:A
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.5488868G>A, NC_000011.9:g.5510098G>A, NM_001005163.2:c.162G>A, NP_001005163.1:p.Met54Ile

Select item 14674552937.

rs1467455293 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:5489162 (GRCh38)
11:5510392 (GRCh37)
Canonical SPDI:: NC_000011.10:5489161:A:G
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.5489162A>G, NC_000011.9:g.5510392A>G, NM_001005163.2:c.456A>G

Select item 14672853958.

rs1467285395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:5488782 (GRCh38)
11:5510012 (GRCh37)
Canonical SPDI:: NC_000011.10:5488781:G:T
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.5488782G>T, NC_000011.9:g.5510012G>T, NM_001005163.2:c.76G>T, NP_001005163.1:p.Ala26Ser

Select item 14663432719.

rs1466343271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:5489245 (GRCh38)
11:5510475 (GRCh37)
Canonical SPDI:: NC_000011.10:5489244:C:A
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.5489245C>A, NC_000011.9:g.5510475C>A, NM_001005163.2:c.539C>A, NP_001005163.1:p.Thr180Lys

Select item 146025552710.

rs1460255527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:5488833 (GRCh38)
11:5510063 (GRCh37)
Canonical SPDI:: NC_000011.10:5488832:G:T
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.5488833G>T, NC_000011.9:g.5510063G>T, NM_001005163.2:c.127G>T, NP_001005163.1:p.Val43Phe

Select item 145791267111.

rs1457912671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:5489006 (GRCh38)
11:5510236 (GRCh37)
Canonical SPDI:: NC_000011.10:5489005:C:A,NC_000011.10:5489005:C:T
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: synonymous_variant,stop_gained,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.5489006C>A, NC_000011.10:g.5489006C>T, NC_000011.9:g.5510236C>A, NC_000011.9:g.5510236C>T, NM_001005163.2:c.300C>A, NM_001005163.2:c.300C>T, NP_001005163.1:p.Cys100Ter

Select item 145578413412.

rs1455784134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:5489628 (GRCh38)
11:5510858 (GRCh37)
Canonical SPDI:: NC_000011.10:5489627:C:A
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.5489628C>A, NC_000011.9:g.5510858C>A, NM_001005163.2:c.922C>A, NP_001005163.1:p.Leu308Ile

Select item 145559525613.

rs1455595256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:5489083 (GRCh38)
11:5510313 (GRCh37)
Canonical SPDI:: NC_000011.10:5489082:A:T
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.5489083A>T, NC_000011.9:g.5510313A>T, NM_001005163.2:c.377A>T, NP_001005163.1:p.Tyr126Phe

Select item 145478297814.

rs1454782978 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:5488861 (GRCh38)
11:5510091 (GRCh37)
Canonical SPDI:: NC_000011.10:5488860:T:A,NC_000011.10:5488860:T:C
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.5488861T>A, NC_000011.10:g.5488861T>C, NC_000011.9:g.5510091T>A, NC_000011.9:g.5510091T>C, NM_001005163.2:c.155T>A, NM_001005163.2:c.155T>C, NP_001005163.1:p.Ile52Asn, NP_001005163.1:p.Ile52Thr

Select item 145338760215.

rs1453387602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:5489341 (GRCh38)
11:5510571 (GRCh37)
Canonical SPDI:: NC_000011.10:5489340:T:A
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_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.5489341T>A, NC_000011.9:g.5510571T>A, NM_001005163.2:c.635T>A, NP_001005163.1:p.Leu212Gln

Select item 145313427916.

rs1453134279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:5489067 (GRCh38)
11:5510297 (GRCh37)
Canonical SPDI:: NC_000011.10:5489066:A:G
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.5489067A>G, NC_000011.9:g.5510297A>G, NM_001005163.2:c.361A>G, NP_001005163.1:p.Met121Val

Select item 144968930517.

rs1449689305 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:5489582 (GRCh38)
11:5510812 (GRCh37)
Canonical SPDI:: NC_000011.10:5489581:T:A
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000068/3 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.5489582T>A, NC_000011.9:g.5510812T>A, NM_001005163.2:c.876T>A, NP_001005163.1:p.Asn292Lys

Select item 144952541118.

rs1449525411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:5489491 (GRCh38)
11:5510721 (GRCh37)
Canonical SPDI:: NC_000011.10:5489490:T:C
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.5489491T>C, NC_000011.9:g.5510721T>C, NM_001005163.2:c.785T>C, NP_001005163.1:p.Phe262Ser

Select item 144792911219.

rs1447929112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:5488883 (GRCh38)
11:5510113 (GRCh37)
Canonical SPDI:: NC_000011.10:5488882:T:A
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000011.10:g.5488883T>A, NC_000011.9:g.5510113T>A, NM_001005163.2:c.177T>A, NP_001005163.1:p.His59Gln

Select item 144596155720.

rs1445961557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:5489359 (GRCh38)
11:5510589 (GRCh37)
Canonical SPDI:: NC_000011.10:5489358:C:A,NC_000011.10:5489358:C:T
Gene:: OR51B5 (Varview), OR52D1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000495/8 (TOMMO)
HGVS:: NC_000011.10:g.5489359C>A, NC_000011.10:g.5489359C>T, NC_000011.9:g.5510589C>A, NC_000011.9:g.5510589C>T, NM_001005163.2:c.653C>A, NM_001005163.2:c.653C>T, NP_001005163.1:p.Ala218Asp, NP_001005163.1:p.Ala218Val