SNP Links for Nucleotide (Select 608601788) - SNP

Links from Nucleotide

Items: 1 to 20 of 398

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Select item 14832828251.

rs1483282825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:5986624 (GRCh38)
11:6007854 (GRCh37)
Canonical SPDI:: NC_000011.10:5986623:G:A
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.5986624G>A, NC_000011.9:g.6007854G>A, NM_001005173.3:c.307C>T, NM_001005173.2:c.307C>T, NP_001005173.3:p.Leu103Phe

Select item 14829579972.

rs1482957997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:5986922 (GRCh38)
11:6008152 (GRCh37)
Canonical SPDI:: NC_000011.10:5986921:C:A,NC_000011.10:5986921:C:T
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.5986922C>A, NC_000011.10:g.5986922C>T, NC_000011.9:g.6008152C>A, NC_000011.9:g.6008152C>T, NM_001005173.3:c.9G>T, NM_001005173.3:c.9G>A, NM_001005173.2:c.9G>T, NM_001005173.2:c.9G>A, NP_001005173.3:p.Leu3Phe

Select item 14791271763.

rs1479127176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:5986014 (GRCh38)
11:6007244 (GRCh37)
Canonical SPDI:: NC_000011.10:5986013:T:C
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.5986014T>C, NC_000011.9:g.6007244T>C, NM_001005173.3:c.917A>G, NM_001005173.2:c.917A>G, NP_001005173.3:p.Asn306Ser

Select item 14746724094.

rs1474672409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:5985993 (GRCh38)
11:6007223 (GRCh37)
Canonical SPDI:: NC_000011.10:5985992:T:C
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.5985993T>C, NC_000011.9:g.6007223T>C, NM_001005173.3:c.938A>G, NM_001005173.2:c.938A>G, NP_001005173.3:p.Lys313Arg

Select item 14723776545.

rs1472377654 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:5986845 (GRCh38)
11:6008075 (GRCh37)
Canonical SPDI:: NC_000011.10:5986844:G:
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.5986845del, NC_000011.9:g.6008075del, NM_001005173.3:c.86del, NM_001005173.2:c.86del, NP_001005173.3:p.Ser29fs

Select item 14699389196.

rs1469938919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:5986491 (GRCh38)
11:6007721 (GRCh37)
Canonical SPDI:: NC_000011.10:5986490:G:A
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.5986491G>A, NC_000011.9:g.6007721G>A, NM_001005173.3:c.440C>T, NM_001005173.2:c.440C>T, NP_001005173.3:p.Pro147Leu

Select item 14681347807.

rs1468134780 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:5986559 (GRCh38)
11:6007789 (GRCh37)
Canonical SPDI:: NC_000011.10:5986558:T:A
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.5986559T>A, NC_000011.9:g.6007789T>A, NM_001005173.3:c.372A>T, NM_001005173.2:c.372A>T

Select item 14653627958.

rs1465362795 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGAAGAGGTACATAGAT [Show Flanks]
Chromosome:: 11:5986481 (GRCh38)
11:6007712 (GRCh37)
Canonical SPDI:: NC_000011.10:5986481::GGAAGAGGTACATAGAT
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.5986481_5986482insGGAAGAGGTACATAGAT, NC_000011.9:g.6007711_6007712insGGAAGAGGTACATAGAT, NM_001005173.3:c.449_450insATCTATGTACCTCTTCC, NM_001005173.2:c.449_450insATCTATGTACCTCTTCC, NP_001005173.3:p.His150fs

Select item 14631277169.

rs1463127716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:5986765 (GRCh38)
11:6007995 (GRCh37)
Canonical SPDI:: NC_000011.10:5986764:C:T
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.5986765C>T, NC_000011.9:g.6007995C>T, NM_001005173.3:c.166G>A, NM_001005173.2:c.166G>A, NP_001005173.3:p.Ala56Thr

Select item 146041270510.

rs1460412705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:5985946 (GRCh38)
11:6007176 (GRCh37)
Canonical SPDI:: NC_000011.10:5985945:C:T
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.5985946C>T, NC_000011.9:g.6007176C>T, NM_001005173.3:c.985G>A, NM_001005173.2:c.985G>A, NP_001005173.3:p.Asp329Asn

Select item 145725802011.

rs1457258020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:5986524 (GRCh38)
11:6007754 (GRCh37)
Canonical SPDI:: NC_000011.10:5986523:A:C
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.5986524A>C, NC_000011.9:g.6007754A>C, NM_001005173.3:c.407T>G, NM_001005173.2:c.407T>G, NP_001005173.3:p.Met136Arg

Select item 145670845712.

rs1456708457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:5986790 (GRCh38)
11:6008020 (GRCh37)
Canonical SPDI:: NC_000011.10:5986789:C:T
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.5986790C>T, NC_000011.9:g.6008020C>T, NM_001005173.3:c.141G>A, NM_001005173.2:c.141G>A

Select item 145648696813.

rs1456486968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:5986862 (GRCh38)
11:6008092 (GRCh37)
Canonical SPDI:: NC_000011.10:5986861:C:T
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,stop_gained,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.5986862C>T, NC_000011.9:g.6008092C>T, NM_001005173.3:c.69G>A, NM_001005173.2:c.69G>A, NP_001005173.3:p.Trp23Ter

Select item 145513469914.

rs1455134699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:5986285 (GRCh38)
11:6007515 (GRCh37)
Canonical SPDI:: NC_000011.10:5986284:A:G
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000011.10:g.5986285A>G, NC_000011.9:g.6007515A>G, NM_001005173.3:c.646T>C, NM_001005173.2:c.646T>C, NP_001005173.3:p.Tyr216His

Select item 145189388315.

rs1451893883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:5986180 (GRCh38)
11:6007410 (GRCh37)
Canonical SPDI:: NC_000011.10:5986179:C:A
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.5986180C>A, NC_000011.9:g.6007410C>A, NM_001005173.3:c.751G>T, NM_001005173.2:c.751G>T, NP_001005173.3:p.Ala251Ser

Select item 145020901616.

rs1450209016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:5986439 (GRCh38)
11:6007669 (GRCh37)
Canonical SPDI:: NC_000011.10:5986438:C:G
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.5986439C>G, NC_000011.9:g.6007669C>G, NM_001005173.3:c.492G>C, NM_001005173.2:c.492G>C, NP_001005173.3:p.Met164Ile

Select item 144876670417.

rs1448766704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:5986670 (GRCh38)
11:6007900 (GRCh37)
Canonical SPDI:: NC_000011.10:5986669:G:A
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.5986670G>A, NC_000011.9:g.6007900G>A, NM_001005173.3:c.261C>T, NM_001005173.2:c.261C>T

Select item 143884838918.

rs1438848389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:5986187 (GRCh38)
11:6007417 (GRCh37)
Canonical SPDI:: NC_000011.10:5986186:C:G,NC_000011.10:5986186:C:T
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,2KB_upstream_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.5986187C>G, NC_000011.10:g.5986187C>T, NC_000011.9:g.6007417C>G, NC_000011.9:g.6007417C>T, NM_001005173.3:c.744G>C, NM_001005173.3:c.744G>A, NM_001005173.2:c.744G>C, NM_001005173.2:c.744G>A

Select item 143818924719.

rs1438189247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:5986331 (GRCh38)
11:6007561 (GRCh37)
Canonical SPDI:: NC_000011.10:5986330:C:A,NC_000011.10:5986330:C:T
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000011.10:g.5986331C>A, NC_000011.10:g.5986331C>T, NC_000011.9:g.6007561C>A, NC_000011.9:g.6007561C>T, NM_001005173.3:c.600G>T, NM_001005173.3:c.600G>A, NM_001005173.2:c.600G>T, NM_001005173.2:c.600G>A, NP_001005173.3:p.Met200Ile, NP_001005173.3:p.Met200Ile

Select item 143756265320.

rs1437562653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:5986306 (GRCh38)
11:6007536 (GRCh37)
Canonical SPDI:: NC_000011.10:5986305:C:T
Gene:: OR52L1 (Varview), OR56A3 (Varview), LOC124902621 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.5986306C>T, NC_000011.9:g.6007536C>T, NM_001005173.3:c.625G>A, NM_001005173.2:c.625G>A, NP_001005173.3:p.Glu209Lys

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