SNP Links for Nucleotide (Select 52317244) - SNP

Links from Nucleotide

Items: 1 to 20 of 352

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Select item 14877617551.

rs1487761755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:59457904 (GRCh38)
11:59225377 (GRCh37)
Canonical SPDI:: NC_000011.10:59457903:G:A,NC_000011.10:59457903:G:C
Gene:: OR4D6 (Varview)
Functional Consequence:: stop_lost,synonymous_variant,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.59457904G>A, NC_000011.10:g.59457904G>C, NC_000011.9:g.59225377G>A, NC_000011.9:g.59225377G>C, NM_001004708.1:c.944G>A, NM_001004708.1:c.944G>C, NP_001004708.1:p.Ter315Ser

Select item 14875695742.

rs1487569574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:59456976 (GRCh38)
11:59224449 (GRCh37)
Canonical SPDI:: NC_000011.10:59456975:C:T
Gene:: OR4D6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.59456976C>T, NC_000011.9:g.59224449C>T, NM_001004708.1:c.16C>T, NP_001004708.1:p.His6Tyr

Select item 14870553203.

rs1487055320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:59457490 (GRCh38)
11:59224963 (GRCh37)
Canonical SPDI:: NC_000011.10:59457489:T:C
Gene:: OR4D6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.59457490T>C, NC_000011.9:g.59224963T>C, NM_001004708.1:c.530T>C, NP_001004708.1:p.Phe177Ser

Select item 14858753124.

rs1485875312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:59457260 (GRCh38)
11:59224733 (GRCh37)
Canonical SPDI:: NC_000011.10:59457259:G:A,NC_000011.10:59457259:G:C
Gene:: OR4D6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.59457260G>A, NC_000011.10:g.59457260G>C, NC_000011.9:g.59224733G>A, NC_000011.9:g.59224733G>C, NM_001004708.1:c.300G>A, NM_001004708.1:c.300G>C, NP_001004708.1:p.Gln100His

Select item 14817832985.

rs1481783298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:59457565 (GRCh38)
11:59225038 (GRCh37)
Canonical SPDI:: NC_000011.10:59457564:A:G
Gene:: OR4D6 (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=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.59457565A>G, NC_000011.9:g.59225038A>G, NM_001004708.1:c.605A>G, NP_001004708.1:p.Asn202Ser

Select item 14775978526.

rs1477597852 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGAGCTTTTCATGATCT>- [Show Flanks]
Chromosome:: 11:59457544 (GRCh38)
11:59225017 (GRCh37)
Canonical SPDI:: NC_000011.10:59457542:TTGGAGCTTTTCATGATCT:T
Gene:: OR4D6 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.59457544_59457561del, NC_000011.9:g.59225017_59225034del, NM_001004708.1:c.584_601del, NP_001004708.1:p.Leu195_Ile200del

Select item 14749568167.

rs1474956816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:59457137 (GRCh38)
11:59224610 (GRCh37)
Canonical SPDI:: NC_000011.10:59457136:G:A
Gene:: OR4D6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.59457137G>A, NC_000011.9:g.59224610G>A, NM_001004708.1:c.177G>A, NP_001004708.1:p.Met59Ile

Select item 14694128048.

rs1469412804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:59457801 (GRCh38)
11:59225274 (GRCh37)
Canonical SPDI:: NC_000011.10:59457800:A:T
Gene:: OR4D6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.59457801A>T, NC_000011.9:g.59225274A>T, NM_001004708.1:c.841A>T, NP_001004708.1:p.Met281Leu

Select item 14636632029.

rs1463663202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:59457363 (GRCh38)
11:59224836 (GRCh37)
Canonical SPDI:: NC_000011.10:59457362:A:G
Gene:: OR4D6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.59457363A>G, NC_000011.9:g.59224836A>G, NM_001004708.1:c.403A>G, NP_001004708.1:p.Met135Val

Select item 145932991910.

rs1459329919 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:59457841 (GRCh38)
11:59225314 (GRCh37)
Canonical SPDI:: NC_000011.10:59457840:T:C
Gene:: OR4D6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.59457841T>C, NC_000011.9:g.59225314T>C, NM_001004708.1:c.881T>C, NP_001004708.1:p.Met294Thr

Select item 145738095011.

rs1457380950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:59457396 (GRCh38)
11:59224869 (GRCh37)
Canonical SPDI:: NC_000011.10:59457395:G:A,NC_000011.10:59457395:G:C
Gene:: OR4D6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.59457396G>A, NC_000011.10:g.59457396G>C, NC_000011.9:g.59224869G>A, NC_000011.9:g.59224869G>C, NM_001004708.1:c.436G>A, NM_001004708.1:c.436G>C, NP_001004708.1:p.Val146Met, NP_001004708.1:p.Val146Leu

Select item 145224775412.

rs1452247754 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:59457485 (GRCh38)
11:59224958 (GRCh37)
Canonical SPDI:: NC_000011.10:59457484:T:G
Gene:: OR4D6 (Varview)
Functional Consequence:: missense_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.59457485T>G, NC_000011.9:g.59224958T>G, NM_001004708.1:c.525T>G, NP_001004708.1:p.Asp175Glu

Select item 145091536513.

rs1450915365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:59457457 (GRCh38)
11:59224930 (GRCh37)
Canonical SPDI:: NC_000011.10:59457456:T:C
Gene:: OR4D6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.59457457T>C, NC_000011.9:g.59224930T>C, NM_001004708.1:c.497T>C, NP_001004708.1:p.Phe166Ser

Select item 144966101414.

rs1449661014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:59457806 (GRCh38)
11:59225279 (GRCh37)
Canonical SPDI:: NC_000011.10:59457805:G:T
Gene:: OR4D6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.59457806G>T, NC_000011.9:g.59225279G>T, NM_001004708.1:c.846G>T

Select item 144958791815.

rs1449587918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:59457876 (GRCh38)
11:59225349 (GRCh37)
Canonical SPDI:: NC_000011.10:59457875:G:A,NC_000011.10:59457875:G:C
Gene:: OR4D6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.59457876G>A, NC_000011.10:g.59457876G>C, NC_000011.9:g.59225349G>A, NC_000011.9:g.59225349G>C, NM_001004708.1:c.916G>A, NM_001004708.1:c.916G>C, NP_001004708.1:p.Gly306Arg, NP_001004708.1:p.Gly306Arg

Select item 144923663816.

rs1449236638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:59457886 (GRCh38)
11:59225359 (GRCh37)
Canonical SPDI:: NC_000011.10:59457885:A:C
Gene:: OR4D6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.59457886A>C, NC_000011.9:g.59225359A>C, NM_001004708.1:c.926A>C, NP_001004708.1:p.Glu309Ala

Select item 144741898317.

rs1447418983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:59457632 (GRCh38)
11:59225105 (GRCh37)
Canonical SPDI:: NC_000011.10:59457631:G:A
Gene:: OR4D6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.59457632G>A, NC_000011.9:g.59225105G>A, NM_001004708.1:c.672G>A, NP_001004708.1:p.Met224Ile

Select item 144305849618.

rs1443058496 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 11:59457038 (GRCh38)
11:59224511 (GRCh37)
Canonical SPDI:: NC_000011.10:59457035:TTCTT:TT
Gene:: OR4D6 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.59457038_59457040del, NC_000011.9:g.59224511_59224513del, NM_001004708.1:c.78_80del, NP_001004708.1:p.Phe26del

Select item 143674460719.

rs1436744607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:59457329 (GRCh38)
11:59224802 (GRCh37)
Canonical SPDI:: NC_000011.10:59457328:C:A
Gene:: OR4D6 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.59457329C>A, NC_000011.9:g.59224802C>A, NM_001004708.1:c.369C>A, NP_001004708.1:p.Tyr123Ter

Select item 143600302820.

rs1436003028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:59457713 (GRCh38)
11:59225186 (GRCh37)
Canonical SPDI:: NC_000011.10:59457712:C:A,NC_000011.10:59457712:C:T
Gene:: OR4D6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.59457713C>A, NC_000011.10:g.59457713C>T, NC_000011.9:g.59225186C>A, NC_000011.9:g.59225186C>T, NM_001004708.1:c.753C>A, NM_001004708.1:c.753C>T, NP_001004708.1:p.Phe251Leu

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