SNP Links for Gene (Select 26687) - SNP

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Select item 14910953651.

rs1491095365 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC [Show Flanks]
Chromosome:: 14:21670351 (GRCh38)
14:22138567 (GRCh37)
Canonical SPDI:: NC_000014.9:21670351::CC
Gene:: OR4E1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.036689/164 (ALFA)
CC=0.00655/12 (Korea1K)
CC=0.007184/120 (TOMMO)
CC=0.034073/4772 (GnomAD)
CC=0.037054/166 (Estonian)
CC=0.038726/248 (1000Genomes)
CC=0.051667/31 (NorthernSweden)
HGVS:: NC_000014.9:g.21670351_21670352insCC, NC_000014.8:g.22138566_22138567insCC, NG_001332.3:g.48448_48449insCC, NM_001317107.2:c.584_585insGG, NM_001317107.1:c.584_585insGG, NP_001304036.1:p.Asp195fs

Select item 14895125182.

rs1489512518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21671043 (GRCh38)
14:22139258 (GRCh37)
Canonical SPDI:: NC_000014.9:21671042:C:T
Gene:: OR4E1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.21671043C>T, NC_000014.8:g.22139258C>T, NG_001332.3:g.49140C>T

Select item 14894884233.

rs1489488423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21670490 (GRCh38)
14:22138705 (GRCh37)
Canonical SPDI:: NC_000014.9:21670489:G:A
Gene:: OR4E1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000014.9:g.21670490G>A, NC_000014.8:g.22138705G>A, NG_001332.3:g.48587G>A, NM_001317107.2:c.446C>T, NM_001317107.1:c.446C>T, NP_001304036.1:p.Ala149Val

Select item 14894352354.

rs1489435235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:21669501 (GRCh38)
14:22137714 (GRCh37)
Canonical SPDI:: NC_000014.9:21669500:G:C
Gene:: OR4E1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000342/1 (KOREAN)
HGVS:: NC_000014.9:g.21669501G>C, NC_000014.8:g.22137714G>C, NG_001332.3:g.47598G>C, NM_001317107.2:c.*487C>G

Select item 14891175425.

rs1489117542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:21670583 (GRCh38)
14:22138798 (GRCh37)
Canonical SPDI:: NC_000014.9:21670582:A:G
Gene:: OR4E1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.21670583A>G, NC_000014.8:g.22138798A>G, NG_001332.3:g.48680A>G, NM_001317107.2:c.353T>C, NM_001317107.1:c.353T>C, NP_001304036.1:p.Leu118Pro

Select item 14879912016.

rs1487991201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 14:21671916 (GRCh38)
14:22140131 (GRCh37)
Canonical SPDI:: NC_000014.9:21671915:T:A,NC_000014.9:21671915:T:G
Gene:: OR4E1 (Varview)
Functional Consequence:: intron_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_000014.9:g.21671916T>A, NC_000014.9:g.21671916T>G, NC_000014.8:g.22140131T>A, NC_000014.8:g.22140131T>G, NG_001332.3:g.50013T>A, NG_001332.3:g.50013T>G

Select item 14871594437.

rs1487159443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21671524 (GRCh38)
14:22139739 (GRCh37)
Canonical SPDI:: NC_000014.9:21671523:G:A
Gene:: OR4E1 (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_000014.9:g.21671524G>A, NC_000014.8:g.22139739G>A, NG_001332.3:g.49621G>A

Select item 14870115678.

rs1487011567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21672337 (GRCh38)
14:22140552 (GRCh37)
Canonical SPDI:: NC_000014.9:21672336:G:A
Gene:: OR4E1 (Varview)
Functional Consequence:: intron_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_000014.9:g.21672337G>A, NC_000014.8:g.22140552G>A, NG_001332.3:g.50434G>A

Select item 14855531329.

rs1485553132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21672319 (GRCh38)
14:22140534 (GRCh37)
Canonical SPDI:: NC_000014.9:21672318:G:A
Gene:: OR4E1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.21672319G>A, NC_000014.8:g.22140534G>A, NG_001332.3:g.50416G>A

Select item 148405568210.

rs1484055682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:21669879 (GRCh38)
14:22138092 (GRCh37)
Canonical SPDI:: NC_000014.9:21669878:A:T
Gene:: OR4E1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.21669879A>T, NC_000014.8:g.22138092A>T, NG_001332.3:g.47976A>T, NM_001317107.2:c.*109T>A

Select item 148214405611.

rs1482144056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21671774 (GRCh38)
14:22139989 (GRCh37)
Canonical SPDI:: NC_000014.9:21671773:C:T
Gene:: OR4E1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.21671774C>T, NC_000014.8:g.22139989C>T, NG_001332.3:g.49871C>T

Select item 148152247912.

rs1481522479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21671882 (GRCh38)
14:22140097 (GRCh37)
Canonical SPDI:: NC_000014.9:21671881:C:T
Gene:: OR4E1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.21671882C>T, NC_000014.8:g.22140097C>T, NG_001332.3:g.49979C>T

Select item 148093660513.

rs1480936605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21670421 (GRCh38)
14:22138636 (GRCh37)
Canonical SPDI:: NC_000014.9:21670420:T:C
Gene:: OR4E1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21670421T>C, NC_000014.8:g.22138636T>C, NG_001332.3:g.48518T>C, NM_001317107.2:c.515A>G, NM_001317107.1:c.515A>G, NP_001304036.1:p.Tyr172Cys

Select item 148093233014.

rs1480932330 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:21669733 (GRCh38)
14:22137946 (GRCh37)
Canonical SPDI:: NC_000014.9:21669732:T:A
Gene:: OR4E1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000014.9:g.21669733T>A, NC_000014.8:g.22137946T>A, NG_001332.3:g.47830T>A, NM_001317107.2:c.*255A>T

Select item 148062044615.

rs1480620446 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAA [Show Flanks]
Chromosome:: 14:21669746 (GRCh38)
14:22137960 (GRCh37)
Canonical SPDI:: NC_000014.9:21669746:ACAAACAA:ACAAACAAACAA
Gene:: OR4E1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: ACAAACAAACAA=0.000071/1 (ALFA)
ACAA=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.21669747ACAA[3], NC_000014.8:g.22137960ACAA[3], NG_001332.3:g.47844ACAA[3], NM_001317107.2:c.*234TTGT[3]

Select item 148017354116.

rs1480173541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21672754 (GRCh38)
14:22140970 (GRCh37)
Canonical SPDI:: NC_000014.9:21672753:T:C
Gene:: OR4E1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.21672754T>C, NC_000014.8:g.22140970T>C, NG_001332.3:g.50851T>C

Select item 147994886417.

rs1479948864 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 14:21670140 (GRCh38)
14:22138353 (GRCh37)
Canonical SPDI:: NC_000014.9:21670139:A:
Gene:: OR4E1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21670140del, NC_000014.8:g.22138353del, NG_001332.3:g.48237del, NM_001317107.2:c.796del, NM_001317107.1:c.796del, NP_001304036.1:p.Ser266fs

Select item 147896846118.

rs1478968461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:21670579 (GRCh38)
14:22138794 (GRCh37)
Canonical SPDI:: NC_000014.9:21670578:G:A,NC_000014.9:21670578:G:T
Gene:: OR4E1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.21670579G>A, NC_000014.9:g.21670579G>T, NC_000014.8:g.22138794G>A, NC_000014.8:g.22138794G>T, NG_001332.3:g.48676G>A, NG_001332.3:g.48676G>T, NM_001317107.2:c.357C>T, NM_001317107.2:c.357C>A, NM_001317107.1:c.357C>T, NM_001317107.1:c.357C>A

Select item 147828752819.

rs1478287528 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21669847 (GRCh38)
14:22138060 (GRCh37)
Canonical SPDI:: NC_000014.9:21669846:T:C
Gene:: OR4E1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.21669847T>C, NC_000014.8:g.22138060T>C, NG_001332.3:g.47944T>C, NM_001317107.2:c.*141A>G

Select item 147802362420.

rs1478023624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:21671008 (GRCh38)
14:22139223 (GRCh37)
Canonical SPDI:: NC_000014.9:21671007:G:C
Gene:: OR4E1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000014.9:g.21671008G>C, NC_000014.8:g.22139223G>C, NG_001332.3:g.49105G>C

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