SNP Links for Gene (Select 393046) - SNP

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Select item 14897212051.

rs1489721205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:144050117 (GRCh38)
7:143747210 (GRCh37)
Canonical SPDI:: NC_000007.14:144050116:G:A
Gene:: OR2A5 (Varview)
Functional Consequence:: intron_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_000007.14:g.144050117G>A, NC_000007.13:g.143747210G>A, NW_018654715.1:g.4691G>A

Select item 14893257362.

rs1489325736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144050558 (GRCh38)
7:143747651 (GRCh37)
Canonical SPDI:: NC_000007.14:144050557:A:G
Gene:: OR2A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.144050558A>G, NC_000007.13:g.143747651A>G, NW_018654715.1:g.5132A>G, NM_012365.2:c.157A>G, NM_012365.1:c.157A>G, NP_036497.1:p.Arg53Gly

Select item 14889960923.

rs1488996092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144051737 (GRCh38)
7:143748830 (GRCh37)
Canonical SPDI:: NC_000007.14:144051736:T:C
Gene:: OR2A5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.144051737T>C, NC_000007.13:g.143748830T>C, NW_018654715.1:g.6311T>C, NM_012365.2:c.*400T>C

Select item 14883475044.

rs1488347504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:144050474 (GRCh38)
7:143747567 (GRCh37)
Canonical SPDI:: NC_000007.14:144050473:C:A,NC_000007.14:144050473:C:T
Gene:: OR2A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144050474C>A, NC_000007.14:g.144050474C>T, NC_000007.13:g.143747567C>A, NC_000007.13:g.143747567C>T, NW_018654715.1:g.5048C>A, NW_018654715.1:g.5048C>T, NM_012365.2:c.73C>A, NM_012365.2:c.73C>T, NM_012365.1:c.73C>A, NM_012365.1:c.73C>T, NP_036497.1:p.Leu25Ile, NP_036497.1:p.Leu25Phe

Select item 14883463955.

rs1488346395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144049937 (GRCh38)
7:143747030 (GRCh37)
Canonical SPDI:: NC_000007.14:144049936:C:T
Gene:: OR2A5 (Varview)
Functional Consequence:: 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_000007.14:g.144049937C>T, NC_000007.13:g.143747030C>T, NW_018654715.1:g.4511C>T

Select item 14877796586.

rs1487779658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:144049001 (GRCh38)
7:143746094 (GRCh37)
Canonical SPDI:: NC_000007.14:144049000:G:A,NC_000007.14:144049000:G:T
Gene:: OR2A5 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.144049001G>A, NC_000007.14:g.144049001G>T, NC_000007.13:g.143746094G>A, NC_000007.13:g.143746094G>T, NW_018654715.1:g.3575G>A, NW_018654715.1:g.3575G>T, NM_012365.2:c.-184G>A, NM_012365.2:c.-184G>T

Select item 14873534337.

rs1487353433 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 7:144049432 (GRCh38)
7:143746525 (GRCh37)
Canonical SPDI:: NC_000007.14:144049431:A:
Gene:: OR2A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144049432del, NC_000007.13:g.143746525del, NW_018654715.1:g.4006del

Select item 14846841968.

rs1484684196 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAGTGC>- [Show Flanks]
Chromosome:: 7:144051545 (GRCh38)
7:143748638 (GRCh37)
Canonical SPDI:: NC_000007.14:144051540:GTGCAAAGTGC:GTGC
Gene:: OR2A5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GTGC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.144051545_144051551del, NC_000007.13:g.143748638_143748644del, NW_018654715.1:g.6119_6125del, NM_012365.2:c.*208_*214del

Select item 14843344289.

rs1484334428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:144051209 (GRCh38)
7:143748302 (GRCh37)
Canonical SPDI:: NC_000007.14:144051208:C:A,NC_000007.14:144051208:C:T
Gene:: OR2A5 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.144051209C>A, NC_000007.14:g.144051209C>T, NC_000007.13:g.143748302C>A, NC_000007.13:g.143748302C>T, NW_018654715.1:g.5783C>A, NW_018654715.1:g.5783C>T, NM_012365.2:c.808C>A, NM_012365.2:c.808C>T, NM_012365.1:c.808C>A, NM_012365.1:c.808C>T, NP_036497.1:p.Gln270Lys, NP_036497.1:p.Gln270Ter

Select item 148088364910.

rs1480883649 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATC>- [Show Flanks]
Chromosome:: 7:144049510 (GRCh38)
7:143746603 (GRCh37)
Canonical SPDI:: NC_000007.14:144049508:CATC:C
Gene:: OR2A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000045/12 (TOPMED)
-=0.000064/9 (GnomAD)
HGVS:: NC_000007.14:g.144049510_144049512del, NC_000007.13:g.143746603_143746605del, NW_018654715.1:g.4084_4086del

Select item 148030198511.

rs1480301985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:144050926 (GRCh38)
7:143748019 (GRCh37)
Canonical SPDI:: NC_000007.14:144050925:C:A
Gene:: OR2A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.144050926C>A, NC_000007.13:g.143748019C>A, NW_018654715.1:g.5500C>A, NM_012365.2:c.525C>A, NM_012365.1:c.525C>A, NP_036497.1:p.Asn175Lys

Select item 147898925612.

rs1478989256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:144050953 (GRCh38)
7:143748046 (GRCh37)
Canonical SPDI:: NC_000007.14:144050952:C:G,NC_000007.14:144050952:C:T
Gene:: OR2A5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.144050953C>G, NC_000007.14:g.144050953C>T, NC_000007.13:g.143748046C>G, NC_000007.13:g.143748046C>T, NW_018654715.1:g.5527C>G, NW_018654715.1:g.5527C>T, NM_012365.2:c.552C>G, NM_012365.2:c.552C>T, NM_012365.1:c.552C>G, NM_012365.1:c.552C>T

Select item 147774056713.

rs1477740567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144049575 (GRCh38)
7:143746668 (GRCh37)
Canonical SPDI:: NC_000007.14:144049574:A:G
Gene:: OR2A5 (Varview)
Functional Consequence:: intron_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_000007.14:g.144049575A>G, NC_000007.13:g.143746668A>G, NW_018654715.1:g.4149A>G

Select item 147699938714.

rs1476999387 has merged into rs1170255708 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATCCATC>-,CATCCATCCATC,CATCCATCCATCCATC [Show Flanks]
Chromosome:: 7:144049517 (GRCh38)
7:143746610 (GRCh37)
Canonical SPDI:: NC_000007.14:144049502:TCCATCCATCCATCCATCCATC:TCCATCCATCCATC,NC_000007.14:144049502:TCCATCCATCCATCCATCCATC:TCCATCCATCCATCCATCCATCCATC,NC_000007.14:144049502:TCCATCCATCCATCCATCCATC:TCCATCCATCCATCCATCCATCCATCCATC
Gene:: OR2A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCATCCATCCATCCATCCATCCATC=0./0 (ALFA)
HGVS:: NC_000007.14:g.144049505CATC[3], NC_000007.14:g.144049505CATC[6], NC_000007.14:g.144049505CATC[7], NC_000007.13:g.143746598CATC[3], NC_000007.13:g.143746598CATC[6], NC_000007.13:g.143746598CATC[7], NW_018654715.1:g.4079CATC[3], NW_018654715.1:g.4079CATC[6], NW_018654715.1:g.4079CATC[7]

Select item 147670140215.

rs1476701402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:144050638 (GRCh38)
7:143747731 (GRCh37)
Canonical SPDI:: NC_000007.14:144050637:G:C
Gene:: OR2A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144050638G>C, NC_000007.13:g.143747731G>C, NW_018654715.1:g.5212G>C, NM_012365.2:c.237G>C, NM_012365.1:c.237G>C, NP_036497.1:p.Lys79Asn

Select item 147638892916.

rs1476388929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144048481 (GRCh38)
7:143745574 (GRCh37)
Canonical SPDI:: NC_000007.14:144048480:T:C
Gene:: OR2A5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.144048481T>C, NC_000007.13:g.143745574T>C, NW_018654715.1:g.3055T>C

Select item 147569895017.

rs1475698950 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144051647 (GRCh38)
7:143748740 (GRCh37)
Canonical SPDI:: NC_000007.14:144051646:T:C
Gene:: OR2A5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144051647T>C, NC_000007.13:g.143748740T>C, NW_018654715.1:g.6221T>C, NM_012365.2:c.*310T>C

Select item 147475684418.

rs1474756844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144051215 (GRCh38)
7:143748308 (GRCh37)
Canonical SPDI:: NC_000007.14:144051214:A:G
Gene:: OR2A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.144051215A>G, NC_000007.13:g.143748308A>G, NW_018654715.1:g.5789A>G, NM_012365.2:c.814A>G, NM_012365.1:c.814A>G, NP_036497.1:p.Lys272Glu

Select item 147380350619.

rs1473803506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:144050566 (GRCh38)
7:143747659 (GRCh37)
Canonical SPDI:: NC_000007.14:144050565:C:A
Gene:: OR2A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144050566C>A, NC_000007.13:g.143747659C>A, NW_018654715.1:g.5140C>A, NM_012365.2:c.165C>A, NM_012365.1:c.165C>A, NP_036497.1:p.His55Gln

Select item 146876503220.

rs1468765032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144050695 (GRCh38)
7:143747788 (GRCh37)
Canonical SPDI:: NC_000007.14:144050694:A:G
Gene:: OR2A5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144050695A>G, NC_000007.13:g.143747788A>G, NW_018654715.1:g.5269A>G, NM_012365.2:c.294A>G, NM_012365.1:c.294A>G

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