SNP Links for Gene (Select 442186) - SNP

Select item 14892927921.

rs1489292792 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:29110212 (GRCh38)
6:29077989 (GRCh37)
Canonical SPDI:: NC_000006.12:29110211:T:C
Gene:: OR2J3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.29110212T>C, NC_000006.11:g.29077989T>C, NG_033252.1:g.3403T>C, NT_113891.3:g.596756T>C, NT_113891.2:g.596862T>C, NT_167248.2:g.375797T>C, NT_167248.1:g.381393T>C, NT_167246.2:g.375775T>C, NT_167246.1:g.381395T>C, NT_167249.2:g.419580T>C, NT_167249.1:g.418878T>C, NT_167245.2:g.375818T>C, NT_167245.1:g.381403T>C, NT_167244.2:g.375840T>C, NT_167244.1:g.381434T>C, NT_167247.2:g.375959T>C, NT_167247.1:g.381544T>C

Select item 14889445322.

rs1488944532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:29112321 (GRCh38)
6:29080098 (GRCh37)
Canonical SPDI:: NC_000006.12:29112320:G:A,NC_000006.12:29112320:G:T
Gene:: OR2J3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29112321G>A, NC_000006.12:g.29112321G>T, NC_000006.11:g.29080098G>A, NC_000006.11:g.29080098G>T, NG_033252.1:g.5512G>A, NG_033252.1:g.5512G>T, NM_001005216.3:c.431G>A, NM_001005216.3:c.431G>T, NM_001005216.4:c.431G>A, NM_001005216.4:c.431G>T, NT_113891.3:g.598869G>A, NT_113891.3:g.598869G>T, NT_113891.2:g.598975G>A, NT_113891.2:g.598975G>T, NT_167248.2:g.377906G>A, NT_167248.2:g.377906G>T, NT_167248.1:g.383502G>A, NT_167248.1:g.383502G>T, NT_167246.2:g.377880G>A, NT_167246.2:g.377880G>T, NT_167246.1:g.383500G>A, NT_167246.1:g.383500G>T, NT_167249.2:g.421685G>A, NT_167249.2:g.421685G>T, NT_167249.1:g.420983G>A, NT_167249.1:g.420983G>T, NT_167245.2:g.377923G>A, NT_167245.2:g.377923G>T, NT_167245.1:g.383508G>A, NT_167245.1:g.383508G>T, NT_167244.2:g.377941G>A, NT_167244.2:g.377941G>T, NT_167244.1:g.383535G>A, NT_167244.1:g.383535G>T, NT_167247.2:g.378060G>A, NT_167247.2:g.378060G>T, NT_167247.1:g.383645G>A, NT_167247.1:g.383645G>T, NP_001005216.2:p.Cys144Tyr, NP_001005216.2:p.Cys144Phe

Select item 14886355013.

rs1488635501 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:29112005 (GRCh38)
6:29079782 (GRCh37)
Canonical SPDI:: NC_000006.12:29112004:T:C
Gene:: OR2J3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000085/3 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.29112005T>C, NC_000006.11:g.29079782T>C, NG_033252.1:g.5196T>C, NM_001005216.3:c.115T>C, NM_001005216.4:c.115T>C, NT_113891.3:g.598553T>C, NT_113891.2:g.598659T>C, NT_167248.2:g.377590T>C, NT_167248.1:g.383186T>C, NT_167246.2:g.377564T>C, NT_167246.1:g.383184T>C, NT_167249.2:g.421369T>C, NT_167249.1:g.420667T>C, NT_167245.2:g.377607T>C, NT_167245.1:g.383192T>C, NT_167244.2:g.377625T>C, NT_167244.1:g.383219T>C, NT_167247.2:g.377744T>C, NT_167247.1:g.383329T>C

Select item 14880152384.

rs1488015238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:29112511 (GRCh38)
6:29080288 (GRCh37)
Canonical SPDI:: NC_000006.12:29112510:C:A,NC_000006.12:29112510:C:T
Gene:: OR2J3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29112511C>A, NC_000006.12:g.29112511C>T, NC_000006.11:g.29080288C>A, NC_000006.11:g.29080288C>T, NG_033252.1:g.5702C>A, NG_033252.1:g.5702C>T, NM_001005216.3:c.621C>A, NM_001005216.3:c.621C>T, NM_001005216.4:c.621C>A, NM_001005216.4:c.621C>T, NT_113891.3:g.599059C>A, NT_113891.3:g.599059C>T, NT_113891.2:g.599165C>A, NT_113891.2:g.599165C>T, NT_167248.2:g.378096C>A, NT_167248.2:g.378096C>T, NT_167248.1:g.383692C>A, NT_167248.1:g.383692C>T, NT_167246.2:g.378070C>A, NT_167246.2:g.378070C>T, NT_167246.1:g.383690C>A, NT_167246.1:g.383690C>T, NT_167249.2:g.421875C>A, NT_167249.2:g.421875C>T, NT_167249.1:g.421173C>A, NT_167249.1:g.421173C>T, NT_167245.2:g.378113C>A, NT_167245.2:g.378113C>T, NT_167245.1:g.383698C>A, NT_167245.1:g.383698C>T, NT_167244.2:g.378131C>A, NT_167244.2:g.378131C>T, NT_167244.1:g.383725C>A, NT_167244.1:g.383725C>T, NT_167247.2:g.378250C>A, NT_167247.2:g.378250C>T, NT_167247.1:g.383835C>A, NT_167247.1:g.383835C>T

Select item 14879815045.

rs1487981504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:29112637 (GRCh38)
6:29080414 (GRCh37)
Canonical SPDI:: NC_000006.12:29112636:G:C
Gene:: OR2J3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29112637G>C, NC_000006.11:g.29080414G>C, NG_033252.1:g.5828G>C, NM_001005216.3:c.747G>C, NM_001005216.4:c.747G>C, NT_113891.3:g.599185G>C, NT_113891.2:g.599291G>C, NT_167248.2:g.378222G>C, NT_167248.1:g.383818G>C, NT_167246.2:g.378196G>C, NT_167246.1:g.383816G>C, NT_167249.2:g.422001G>C, NT_167249.1:g.421299G>C, NT_167245.2:g.378239G>C, NT_167245.1:g.383824G>C, NT_167244.2:g.378257G>C, NT_167244.1:g.383851G>C, NT_167247.2:g.378376G>C, NT_167247.1:g.383961G>C, NP_001005216.2:p.Met249Ile

Select item 14861591366.

rs1486159136 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 6:29112793 (GRCh38)
6:29080570 (GRCh37)
Canonical SPDI:: NC_000006.12:29112792:A:
Gene:: OR2J3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29112793del, NC_000006.11:g.29080570del, NG_033252.1:g.5984del, NM_001005216.3:c.903del, NM_001005216.4:c.903del, NT_113891.3:g.599341del, NT_113891.2:g.599447del, NT_167248.2:g.378378del, NT_167248.1:g.383974del, NT_167246.2:g.378352del, NT_167246.1:g.383972del, NT_167249.2:g.422157del, NT_167249.1:g.421455del, NT_167245.2:g.378395del, NT_167245.1:g.383980del, NT_167244.2:g.378413del, NT_167244.1:g.384007del, NP_001005216.2:p.Ala303fs

Select item 14858364567.

rs1485836456 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:29113100 (GRCh38)
6:29080877 (GRCh37)
Canonical SPDI:: NC_000006.12:29113099:A:G
Gene:: OR2J3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29113100A>G, NC_000006.11:g.29080877A>G, NG_033252.1:g.6291A>G, NT_113891.3:g.599648A>G, NT_113891.2:g.599754A>G, NT_167248.2:g.378685A>G, NT_167248.1:g.384281A>G, NT_167246.2:g.378659A>G, NT_167246.1:g.384279A>G, NT_167249.2:g.422464A>G, NT_167249.1:g.421762A>G, NT_167245.2:g.378702A>G, NT_167245.1:g.384287A>G, NT_167244.2:g.378720A>G, NT_167244.1:g.384314A>G, NM_001005216.4:c.*274A>G

Select item 14844899268.

rs1484489926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:29113249 (GRCh38)
6:29081026 (GRCh37)
Canonical SPDI:: NC_000006.12:29113248:G:A
Gene:: OR2J3 (Varview)
Functional Consequence:: 3_prime_UTR_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_000006.12:g.29113249G>A, NC_000006.11:g.29081026G>A, NG_033252.1:g.6440G>A, NT_113891.3:g.599797G>A, NT_113891.2:g.599903G>A, NT_167248.2:g.378834G>A, NT_167248.1:g.384430G>A, NT_167246.2:g.378808G>A, NT_167246.1:g.384428G>A, NT_167249.2:g.422613G>A, NT_167249.1:g.421911G>A, NT_167245.2:g.378851G>A, NT_167245.1:g.384436G>A, NT_167244.2:g.378869G>A, NT_167244.1:g.384463G>A, NM_001005216.4:c.*423G>A

Select item 14841382689.

rs1484138268 [Homo sapiens]

Variant type:: DEL
Alleles:: GAG>- [Show Flanks]
Chromosome:: 6:29111853 (GRCh38)
6:29079630 (GRCh37)
Canonical SPDI:: NC_000006.12:29111852:GAG:
Gene:: OR2J3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0007/6 (ALFA)
HGVS:: NC_000006.12:g.29111853_29111855del, NC_000006.11:g.29079630_29079632del, NG_033252.1:g.5044_5046del, NM_001005216.3:c.-38_-36del, NT_113891.3:g.598401_598403del, NT_113891.2:g.598507_598509del, NT_167248.2:g.377438_377440del, NT_167248.1:g.383034_383036del, NT_167246.2:g.377412_377414del, NT_167246.1:g.383032_383034del, NT_167249.2:g.421217_421219del, NT_167249.1:g.420515_420517del, NT_167245.2:g.377455_377457del, NT_167245.1:g.383040_383042del, NT_167244.2:g.377473_377475del, NT_167244.1:g.383067_383069del, NT_167247.2:g.377592_377594del, NT_167247.1:g.383177_383179del

Select item 148137746510.

rs1481377465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:29112412 (GRCh38)
6:29080189 (GRCh37)
Canonical SPDI:: NC_000006.12:29112411:C:A,NC_000006.12:29112411:C:T
Gene:: OR2J3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.29112412C>A, NC_000006.12:g.29112412C>T, NC_000006.11:g.29080189C>A, NC_000006.11:g.29080189C>T, NG_033252.1:g.5603C>A, NG_033252.1:g.5603C>T, NM_001005216.3:c.522C>A, NM_001005216.3:c.522C>T, NM_001005216.4:c.522C>A, NM_001005216.4:c.522C>T, NT_113891.3:g.598960C>A, NT_113891.3:g.598960C>T, NT_113891.2:g.599066C>A, NT_113891.2:g.599066C>T, NT_167248.2:g.377997C>A, NT_167248.2:g.377997C>T, NT_167248.1:g.383593C>A, NT_167248.1:g.383593C>T, NT_167246.2:g.377971C>A, NT_167246.2:g.377971C>T, NT_167246.1:g.383591C>A, NT_167246.1:g.383591C>T, NT_167249.2:g.421776C>A, NT_167249.2:g.421776C>T, NT_167249.1:g.421074C>A, NT_167249.1:g.421074C>T, NT_167245.2:g.378014C>A, NT_167245.2:g.378014C>T, NT_167245.1:g.383599C>A, NT_167245.1:g.383599C>T, NT_167244.2:g.378032C>A, NT_167244.2:g.378032C>T, NT_167244.1:g.383626C>A, NT_167244.1:g.383626C>T, NT_167247.2:g.378151C>A, NT_167247.2:g.378151C>T, NT_167247.1:g.383736C>A, NT_167247.1:g.383736C>T, NP_001005216.2:p.His174Gln

Select item 147813733511.

rs1478137335 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:29110299 (GRCh38)
6:29078076 (GRCh37)
Canonical SPDI:: NC_000006.12:29110298:T:C
Gene:: OR2J3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.29110299T>C, NC_000006.11:g.29078076T>C, NG_033252.1:g.3490T>C, NT_113891.3:g.596843T>C, NT_113891.2:g.596949T>C, NT_167248.2:g.375884T>C, NT_167248.1:g.381480T>C, NT_167246.2:g.375862T>C, NT_167246.1:g.381482T>C, NT_167249.2:g.419667T>C, NT_167249.1:g.418965T>C, NT_167245.2:g.375905T>C, NT_167245.1:g.381490T>C, NT_167244.2:g.375927T>C, NT_167244.1:g.381521T>C, NT_167247.2:g.376046T>C, NT_167247.1:g.381631T>C

Select item 147648281312.

rs1476482813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29111961 (GRCh38)
6:29079738 (GRCh37)
Canonical SPDI:: NC_000006.12:29111960:C:T
Gene:: OR2J3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.29111961C>T, NC_000006.11:g.29079738C>T, NG_033252.1:g.5152C>T, NM_001005216.3:c.71C>T, NM_001005216.4:c.71C>T, NT_113891.3:g.598509C>T, NT_113891.2:g.598615C>T, NT_167248.2:g.377546C>T, NT_167248.1:g.383142C>T, NT_167246.2:g.377520C>T, NT_167246.1:g.383140C>T, NT_167249.2:g.421325C>T, NT_167249.1:g.420623C>T, NT_167245.2:g.377563C>T, NT_167245.1:g.383148C>T, NT_167244.2:g.377581C>T, NT_167244.1:g.383175C>T, NT_167247.2:g.377700C>T, NT_167247.1:g.383285C>T, NP_001005216.2:p.Pro24Leu

Select item 147578469513.

rs1475784695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:29110813 (GRCh38)
6:29078590 (GRCh37)
Canonical SPDI:: NC_000006.12:29110812:C:G,NC_000006.12:29110812:C:T
Gene:: OR2J3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.29110813C>G, NC_000006.12:g.29110813C>T, NC_000006.11:g.29078590C>G, NC_000006.11:g.29078590C>T, NG_033252.1:g.4004C>G, NG_033252.1:g.4004C>T, NT_113891.3:g.597357C>G, NT_113891.3:g.597357C>T, NT_113891.2:g.597463C>G, NT_113891.2:g.597463C>T, NT_167248.2:g.376398C>G, NT_167248.2:g.376398C>T, NT_167248.1:g.381994C>G, NT_167248.1:g.381994C>T, NT_167246.2:g.376376C>G, NT_167246.2:g.376376C>T, NT_167246.1:g.381996C>G, NT_167246.1:g.381996C>T, NT_167249.2:g.420181C>G, NT_167249.2:g.420181C>T, NT_167249.1:g.419479C>G, NT_167249.1:g.419479C>T, NT_167245.2:g.376419C>G, NT_167245.2:g.376419C>T, NT_167245.1:g.382004C>G, NT_167245.1:g.382004C>T, NT_167244.2:g.376441C>G, NT_167244.2:g.376441C>T, NT_167244.1:g.382035C>G, NT_167244.1:g.382035C>T, NT_167247.2:g.376560C>G, NT_167247.2:g.376560C>T, NT_167247.1:g.382145C>G, NT_167247.1:g.382145C>T

Select item 147563113614.

rs1475631136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:29112897 (GRCh38)
6:29080674 (GRCh37)
Canonical SPDI:: NC_000006.12:29112896:A:G,NC_000006.12:29112896:A:T
Gene:: OR2J3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.29112897A>G, NC_000006.12:g.29112897A>T, NC_000006.11:g.29080674A>G, NC_000006.11:g.29080674A>T, NG_033252.1:g.6088A>G, NG_033252.1:g.6088A>T, NT_113891.3:g.599445A>G, NT_113891.3:g.599445A>T, NT_113891.2:g.599551A>G, NT_113891.2:g.599551A>T, NT_167248.2:g.378482A>G, NT_167248.2:g.378482A>T, NT_167248.1:g.384078A>G, NT_167248.1:g.384078A>T, NT_167246.2:g.378456A>G, NT_167246.2:g.378456A>T, NT_167246.1:g.384076A>G, NT_167246.1:g.384076A>T, NT_167249.2:g.422261A>G, NT_167249.2:g.422261A>T, NT_167249.1:g.421559A>G, NT_167249.1:g.421559A>T, NT_167245.2:g.378499A>G, NT_167245.2:g.378499A>T, NT_167245.1:g.384084A>G, NT_167245.1:g.384084A>T, NT_167244.2:g.378517A>G, NT_167244.2:g.378517A>T, NT_167244.1:g.384111A>G, NT_167244.1:g.384111A>T, NM_001005216.4:c.*71A>G, NM_001005216.4:c.*71A>T

Select item 147533224715.

rs1475332247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:29110223 (GRCh38)
6:29078000 (GRCh37)
Canonical SPDI:: NC_000006.12:29110222:G:A
Gene:: OR2J3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.29110223G>A, NC_000006.11:g.29078000G>A, NG_033252.1:g.3414G>A, NT_113891.3:g.596767G>A, NT_113891.2:g.596873G>A, NT_167248.2:g.375808G>A, NT_167248.1:g.381404G>A, NT_167246.2:g.375786G>A, NT_167246.1:g.381406G>A, NT_167249.2:g.419591G>A, NT_167249.1:g.418889G>A, NT_167245.2:g.375829G>A, NT_167245.1:g.381414G>A, NT_167244.2:g.375851G>A, NT_167244.1:g.381445G>A, NT_167247.2:g.375970G>A, NT_167247.1:g.381555G>A

Select item 147399516516.

rs1473995165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:29113366 (GRCh38)
6:29081143 (GRCh37)
Canonical SPDI:: NC_000006.12:29113365:C:G
Gene:: OR2J3 (Varview)
Functional Consequence:: 3_prime_UTR_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_000006.12:g.29113366C>G, NC_000006.11:g.29081143C>G, NG_033252.1:g.6557C>G, NT_113891.3:g.599914C>G, NT_113891.2:g.600020C>G, NT_167248.2:g.378951C>G, NT_167248.1:g.384547C>G, NT_167246.2:g.378925C>G, NT_167246.1:g.384545C>G, NT_167249.2:g.422730C>G, NT_167249.1:g.422028C>G, NT_167245.2:g.378968C>G, NT_167245.1:g.384553C>G, NT_167244.2:g.378986C>G, NT_167244.1:g.384580C>G, NM_001005216.4:c.*540C>G

Select item 147392326017.

rs1473923260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:29112328 (GRCh38)
6:29080105 (GRCh37)
Canonical SPDI:: NC_000006.12:29112327:G:A
Gene:: OR2J3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000006.12:g.29112328G>A, NC_000006.11:g.29080105G>A, NG_033252.1:g.5519G>A, NM_001005216.3:c.438G>A, NM_001005216.4:c.438G>A, NT_113891.3:g.598876G>A, NT_113891.2:g.598982G>A, NT_167248.2:g.377913G>A, NT_167248.1:g.383509G>A, NT_167246.2:g.377887G>A, NT_167246.1:g.383507G>A, NT_167249.2:g.421692G>A, NT_167249.1:g.420990G>A, NT_167245.2:g.377930G>A, NT_167245.1:g.383515G>A, NT_167244.2:g.377948G>A, NT_167244.1:g.383542G>A, NT_167247.2:g.378067G>A, NT_167247.1:g.383652G>A

Select item 147365146618.

rs1473651466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:29110651 (GRCh38)
6:29078428 (GRCh37)
Canonical SPDI:: NC_000006.12:29110650:A:C
Gene:: OR2J3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.29110651A>C, NC_000006.11:g.29078428A>C, NG_033252.1:g.3842A>C, NT_113891.3:g.597195A>C, NT_113891.2:g.597301A>C, NT_167248.2:g.376236A>C, NT_167248.1:g.381832A>C, NT_167246.2:g.376214A>C, NT_167246.1:g.381834A>C, NT_167249.2:g.420019A>C, NT_167249.1:g.419317A>C, NT_167245.2:g.376257A>C, NT_167245.1:g.381842A>C, NT_167244.2:g.376279A>C, NT_167244.1:g.381873A>C, NT_167247.2:g.376398A>C, NT_167247.1:g.381983A>C

Select item 147280263419.

rs1472802634 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCA>- [Show Flanks]
Chromosome:: 6:29112195 (GRCh38)
6:29079972 (GRCh37)
Canonical SPDI:: NC_000006.12:29112193:ATTCA:A
Gene:: OR2J3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29112195_29112198del, NC_000006.11:g.29079972_29079975del, NG_033252.1:g.5386_5389del, NM_001005216.3:c.305_308del, NM_001005216.4:c.305_308del, NT_113891.3:g.598743_598746del, NT_113891.2:g.598849_598852del, NT_167248.2:g.377780_377783del, NT_167248.1:g.383376_383379del, NT_167246.2:g.377754_377757del, NT_167246.1:g.383374_383377del, NT_167249.2:g.421559_421562del, NT_167249.1:g.420857_420860del, NT_167245.2:g.377797_377800del, NT_167245.1:g.383382_383385del, NT_167244.2:g.377815_377818del, NT_167244.1:g.383409_383412del, NT_167247.2:g.377934_377937del, NT_167247.1:g.383519_383522del, NP_001005216.2:p.Ile102fs

Select item 147215060720.

rs1472150607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:29112830 (GRCh38)
6:29080607 (GRCh37)
Canonical SPDI:: NC_000006.12:29112829:T:A,NC_000006.12:29112829:T:G
Gene:: OR2J3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29112830T>A, NC_000006.12:g.29112830T>G, NC_000006.11:g.29080607T>A, NC_000006.11:g.29080607T>G, NG_033252.1:g.6021T>A, NG_033252.1:g.6021T>G, NM_001005216.3:c.*4T>A, NM_001005216.3:c.*4T>G, NM_001005216.4:c.*4T>A, NM_001005216.4:c.*4T>G, NT_113891.3:g.599378T>A, NT_113891.3:g.599378T>G, NT_113891.2:g.599484T>A, NT_113891.2:g.599484T>G, NT_167248.2:g.378415T>A, NT_167248.2:g.378415T>G, NT_167248.1:g.384011T>A, NT_167248.1:g.384011T>G, NT_167246.2:g.378389T>A, NT_167246.2:g.378389T>G, NT_167246.1:g.384009T>A, NT_167246.1:g.384009T>G, NT_167249.2:g.422194T>A, NT_167249.2:g.422194T>G, NT_167249.1:g.421492T>A, NT_167249.1:g.421492T>G, NT_167245.2:g.378432T>A, NT_167245.2:g.378432T>G, NT_167245.1:g.384017T>A, NT_167245.1:g.384017T>G, NT_167244.2:g.378450T>A, NT_167244.2:g.378450T>G, NT_167244.1:g.384044T>A, NT_167244.1:g.384044T>G

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Result Filters

Clinical Significance

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