SNP Links for Nucleotide (Select 50979289) - SNP

Links from Nucleotide

Items: 1 to 20 of 354

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Select item 14871257311.

rs1487125731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:56642171 (GRCh38)
11:56409647 (GRCh37)
Canonical SPDI:: NC_000011.10:56642170:T:C
Gene:: OR5AP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.56642171T>C, NC_000011.9:g.56409647T>C, NM_001002925.1:c.269A>G, NP_001002925.1:p.Asn90Ser

Select item 14866172932.

rs1486617293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:56641689 (GRCh38)
11:56409165 (GRCh37)
Canonical SPDI:: NC_000011.10:56641688:G:A,NC_000011.10:56641688:G:C
Gene:: OR5AP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
HGVS:: NC_000011.10:g.56641689G>A, NC_000011.10:g.56641689G>C, NC_000011.9:g.56409165G>A, NC_000011.9:g.56409165G>C, NM_001002925.1:c.751C>T, NM_001002925.1:c.751C>G, NP_001002925.1:p.Leu251Phe, NP_001002925.1:p.Leu251Val

Select item 14825381523.

rs1482538152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:56642242 (GRCh38)
11:56409718 (GRCh37)
Canonical SPDI:: NC_000011.10:56642241:A:G
Gene:: OR5AP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56642242A>G, NC_000011.9:g.56409718A>G, NM_001002925.1:c.198T>C

Select item 14824341114.

rs1482434111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:56642251 (GRCh38)
11:56409727 (GRCh37)
Canonical SPDI:: NC_000011.10:56642250:G:A,NC_000011.10:56642250:G:T
Gene:: OR5AP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.56642251G>A, NC_000011.10:g.56642251G>T, NC_000011.9:g.56409727G>A, NC_000011.9:g.56409727G>T, NM_001002925.1:c.189C>T, NM_001002925.1:c.189C>A

Select item 14822070205.

rs1482207020 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:56641921 (GRCh38)
11:56409397 (GRCh37)
Canonical SPDI:: NC_000011.10:56641920:GG:G
Gene:: OR5AP2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56641922del, NC_000011.9:g.56409398del, NM_001002925.1:c.519del, NP_001002925.1:p.Cys175fs

Select item 14806691886.

rs1480669188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:56642259 (GRCh38)
11:56409735 (GRCh37)
Canonical SPDI:: NC_000011.10:56642258:G:T
Gene:: OR5AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.56642259G>T, NC_000011.9:g.56409735G>T, NM_001002925.1:c.181C>A, NP_001002925.1:p.Leu61Ile

Select item 14805671897.

rs1480567189 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:56641634 (GRCh38)
11:56409110 (GRCh37)
Canonical SPDI:: NC_000011.10:56641633:G:
Gene:: OR5AP2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56641634del, NC_000011.9:g.56409110del, NM_001002925.1:c.806del, NP_001002925.1:p.Thr269fs

Select item 14737144688.

rs1473714468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:56642071 (GRCh38)
11:56409547 (GRCh37)
Canonical SPDI:: NC_000011.10:56642070:C:T
Gene:: OR5AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.56642071C>T, NC_000011.9:g.56409547C>T, NM_001002925.1:c.369G>A, NP_001002925.1:p.Met123Ile

Select item 14715188559.

rs1471518855 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:56642027 (GRCh38)
11:56409503 (GRCh37)
Canonical SPDI:: NC_000011.10:56642026:T:C
Gene:: OR5AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.56642027T>C, NC_000011.9:g.56409503T>C, NM_001002925.1:c.413A>G, NP_001002925.1:p.Tyr138Cys

Select item 147016934210.

rs1470169342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:56641510 (GRCh38)
11:56408986 (GRCh37)
Canonical SPDI:: NC_000011.10:56641509:G:C
Gene:: OR5AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56641510G>C, NC_000011.9:g.56408986G>C, NM_001002925.1:c.930C>G, NP_001002925.1:p.Ile310Met

Select item 146996157011.

rs1469961570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:56641575 (GRCh38)
11:56409051 (GRCh37)
Canonical SPDI:: NC_000011.10:56641574:G:T
Gene:: OR5AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56641575G>T, NC_000011.9:g.56409051G>T, NM_001002925.1:c.865C>A, NP_001002925.1:p.Pro289Thr

Select item 146354509312.

rs1463545093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:56641606 (GRCh38)
11:56409082 (GRCh37)
Canonical SPDI:: NC_000011.10:56641605:C:T
Gene:: OR5AP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.56641606C>T, NC_000011.9:g.56409082C>T, NM_001002925.1:c.834G>A

Select item 146311737413.

rs1463117374 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:56642350 (GRCh38)
11:56409826 (GRCh37)
Canonical SPDI:: NC_000011.10:56642349:T:C,NC_000011.10:56642349:T:G
Gene:: OR5AP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.56642350T>C, NC_000011.10:g.56642350T>G, NC_000011.9:g.56409826T>C, NC_000011.9:g.56409826T>G, NM_001002925.1:c.90A>G, NM_001002925.1:c.90A>C, NP_001002925.1:p.Gln30His

Select item 146128602514.

rs1461286025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:56641751 (GRCh38)
11:56409227 (GRCh37)
Canonical SPDI:: NC_000011.10:56641750:G:A,NC_000011.10:56641750:G:C
Gene:: OR5AP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.56641751G>A, NC_000011.10:g.56641751G>C, NC_000011.9:g.56409227G>A, NC_000011.9:g.56409227G>C, NM_001002925.1:c.689C>T, NM_001002925.1:c.689C>G, NP_001002925.1:p.Ala230Val, NP_001002925.1:p.Ala230Gly

Select item 146037934415.

rs1460379344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:56641552 (GRCh38)
11:56409028 (GRCh37)
Canonical SPDI:: NC_000011.10:56641551:A:G
Gene:: OR5AP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.56641552A>G, NC_000011.9:g.56409028A>G, NM_001002925.1:c.888T>C

Select item 146033992816.

rs1460339928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:56641644 (GRCh38)
11:56409120 (GRCh37)
Canonical SPDI:: NC_000011.10:56641643:A:G
Gene:: OR5AP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.56641644A>G, NC_000011.9:g.56409120A>G, NM_001002925.1:c.796T>C

Select item 145085034317.

rs1450850343 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:56641528 (GRCh38)
11:56409004 (GRCh37)
Canonical SPDI:: NC_000011.10:56641527:T:G
Gene:: OR5AP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.56641528T>G, NC_000011.9:g.56409004T>G, NM_001002925.1:c.912A>C, NP_001002925.1:p.Lys304Asn

Select item 145060634718.

rs1450606347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:56641934 (GRCh38)
11:56409410 (GRCh37)
Canonical SPDI:: NC_000011.10:56641933:G:T
Gene:: OR5AP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.56641934G>T, NC_000011.9:g.56409410G>T, NM_001002925.1:c.506C>A, NP_001002925.1:p.Thr169Asn

Select item 144779495219.

rs1447794952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:56641708 (GRCh38)
11:56409184 (GRCh37)
Canonical SPDI:: NC_000011.10:56641707:G:A
Gene:: OR5AP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.56641708G>A, NC_000011.9:g.56409184G>A, NM_001002925.1:c.732C>T

Select item 144703327220.

rs1447033272 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:56642225 (GRCh38)
11:56409701 (GRCh37)
Canonical SPDI:: NC_000011.10:56642224:A:T
Gene:: OR5AP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.56642225A>T, NC_000011.9:g.56409701A>T, NM_001002925.1:c.215T>A, NP_001002925.1:p.Leu72His

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