SNP Links for Nucleotide (Select 635172890) - SNP

Links from Nucleotide

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Select item 14891645881.

rs1489164588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:52084797 (GRCh38)
12:52478581 (GRCh37)
Canonical SPDI:: NC_000012.12:52084796:C:A
Gene:: OR7E47P (Varview), SMIM41 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.52084797C>A, NC_000012.11:g.52478581C>A, NR_120439.1:n.52C>A, NR_120438.1:n.52C>A

Select item 14880099162.

rs1488009916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:52108231 (GRCh38)
12:52502015 (GRCh37)
Canonical SPDI:: NC_000012.12:52108230:A:T
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_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_000012.12:g.52108231A>T, NC_000012.11:g.52502015A>T, NR_120437.1:n.1414A>T, NM_001369216.1:c.*1048A>T, NR_120439.1:n.937A>T, NR_120440.1:n.914A>T

Select item 14860194443.

rs1486019444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52108090 (GRCh38)
12:52501874 (GRCh37)
Canonical SPDI:: NC_000012.12:52108089:T:C
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52108090T>C, NC_000012.11:g.52501874T>C, NR_120437.1:n.1273T>C, NM_001369216.1:c.*907T>C, NR_120439.1:n.796T>C, NR_120440.1:n.773T>C

Select item 14816863584.

rs1481686358 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:52107791 (GRCh38)
12:52501575 (GRCh37)
Canonical SPDI:: NC_000012.12:52107790:A:T
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00046/7 (ALFA)
HGVS:: NC_000012.12:g.52107791A>T, NC_000012.11:g.52501575A>T, NR_120437.1:n.974A>T, NM_001369216.1:c.*608A>T, NR_120439.1:n.497A>T, NR_120440.1:n.474A>T

Select item 14774094015.

rs1477409401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:52107955 (GRCh38)
12:52501739 (GRCh37)
Canonical SPDI:: NC_000012.12:52107954:G:A,NC_000012.12:52107954:G:C
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.52107955G>A, NC_000012.12:g.52107955G>C, NC_000012.11:g.52501739G>A, NC_000012.11:g.52501739G>C, NR_120437.1:n.1138G>A, NR_120437.1:n.1138G>C, NM_001369216.1:c.*772G>A, NM_001369216.1:c.*772G>C, NR_120439.1:n.661G>A, NR_120439.1:n.661G>C, NR_120440.1:n.638G>A, NR_120440.1:n.638G>C

Select item 14759728166.

rs1475972816 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:52107723 (GRCh38)
12:52501507 (GRCh37)
Canonical SPDI:: NC_000012.12:52107722:T:C,NC_000012.12:52107722:T:G
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000068/18 (TOPMED)
HGVS:: NC_000012.12:g.52107723T>C, NC_000012.12:g.52107723T>G, NC_000012.11:g.52501507T>C, NC_000012.11:g.52501507T>G, NR_120437.1:n.906T>C, NR_120437.1:n.906T>G, NM_001369216.1:c.*540T>C, NM_001369216.1:c.*540T>G, NR_120439.1:n.429T>C, NR_120439.1:n.429T>G, NR_120440.1:n.406T>C, NR_120440.1:n.406T>G

Select item 14715942777.

rs1471594277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:52108021 (GRCh38)
12:52501805 (GRCh37)
Canonical SPDI:: NC_000012.12:52108020:T:G
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.52108021T>G, NC_000012.11:g.52501805T>G, NR_120437.1:n.1204T>G, NM_001369216.1:c.*838T>G, NR_120439.1:n.727T>G, NR_120440.1:n.704T>G

Select item 14713646058.

rs1471364605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52108066 (GRCh38)
12:52501850 (GRCh37)
Canonical SPDI:: NC_000012.12:52108065:C:T
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000156/1 (1000Genomes)
T=0.000342/1 (KOREAN)
T=0.00184/31 (TOMMO)
HGVS:: NC_000012.12:g.52108066C>T, NC_000012.11:g.52501850C>T, NR_120437.1:n.1249C>T, NM_001369216.1:c.*883C>T, NR_120439.1:n.772C>T, NR_120440.1:n.749C>T

Select item 14699171259.

rs1469917125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52107555 (GRCh38)
12:52501339 (GRCh37)
Canonical SPDI:: NC_000012.12:52107554:C:T
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_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_000012.12:g.52107555C>T, NC_000012.11:g.52501339C>T, NR_120437.1:n.738C>T, NM_001369216.1:c.*372C>T, NR_120439.1:n.261C>T, NR_120440.1:n.238C>T

Select item 146475708110.

rs1464757081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:52107588 (GRCh38)
12:52501372 (GRCh37)
Canonical SPDI:: NC_000012.12:52107587:G:T
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52107588G>T, NC_000012.11:g.52501372G>T, NR_120437.1:n.771G>T, NM_001369216.1:c.*405G>T, NR_120439.1:n.294G>T, NR_120440.1:n.271G>T

Select item 146470828111.

rs1464708281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52107503 (GRCh38)
12:52501287 (GRCh37)
Canonical SPDI:: NC_000012.12:52107502:C:T
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.52107503C>T, NC_000012.11:g.52501287C>T, NR_120437.1:n.686C>T, NM_001369216.1:c.*320C>T, NR_120439.1:n.209C>T, NR_120440.1:n.186C>T

Select item 146229537312.

rs1462295373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52108299 (GRCh38)
12:52502083 (GRCh37)
Canonical SPDI:: NC_000012.12:52108298:T:C
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.52108299T>C, NC_000012.11:g.52502083T>C, NR_120437.1:n.1482T>C, NR_120439.1:n.1005T>C, NR_120440.1:n.982T>C

Select item 145746114013.

rs1457461140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52107517 (GRCh38)
12:52501301 (GRCh37)
Canonical SPDI:: NC_000012.12:52107516:C:T
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52107517C>T, NC_000012.11:g.52501301C>T, NR_120437.1:n.700C>T, NM_001369216.1:c.*334C>T, NR_120439.1:n.223C>T, NR_120440.1:n.200C>T

Select item 145672409014.

rs1456724090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52107878 (GRCh38)
12:52501662 (GRCh37)
Canonical SPDI:: NC_000012.12:52107877:C:T
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52107878C>T, NC_000012.11:g.52501662C>T, NR_120437.1:n.1061C>T, NM_001369216.1:c.*695C>T, NR_120439.1:n.584C>T, NR_120440.1:n.561C>T

Select item 145615029915.

rs1456150299 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTGTAGCC>- [Show Flanks]
Chromosome:: 12:52107701 (GRCh38)
12:52501485 (GRCh37)
Canonical SPDI:: NC_000012.12:52107700:TTTGTAGCC:
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.001132/19 (TOMMO)
HGVS:: NC_000012.12:g.52107701_52107709del, NC_000012.11:g.52501485_52501493del, NR_120437.1:n.884_892del, NM_001369216.1:c.*518_*526del, NR_120439.1:n.407_415del, NR_120440.1:n.384_392del

Select item 145422661416.

rs1454226614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:52108247 (GRCh38)
12:52502031 (GRCh37)
Canonical SPDI:: NC_000012.12:52108246:C:A,NC_000012.12:52108246:C:T
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000012.12:g.52108247C>A, NC_000012.12:g.52108247C>T, NC_000012.11:g.52502031C>A, NC_000012.11:g.52502031C>T, NR_120437.1:n.1430C>A, NR_120437.1:n.1430C>T, NM_001369216.1:c.*1064C>A, NM_001369216.1:c.*1064C>T, NR_120439.1:n.953C>A, NR_120439.1:n.953C>T, NR_120440.1:n.930C>A, NR_120440.1:n.930C>T

Select item 145191989417.

rs1451919894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52108266 (GRCh38)
12:52502050 (GRCh37)
Canonical SPDI:: NC_000012.12:52108265:A:G
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.52108266A>G, NC_000012.11:g.52502050A>G, NR_120437.1:n.1449A>G, NR_120439.1:n.972A>G, NR_120440.1:n.949A>G

Select item 145024681818.

rs1450246818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52107788 (GRCh38)
12:52501572 (GRCh37)
Canonical SPDI:: NC_000012.12:52107787:C:T
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00086/14 (ALFA)
T=0.00376/11 (KOREAN)
T=0.00491/9 (Korea1K)
HGVS:: NC_000012.12:g.52107788C>T, NC_000012.11:g.52501572C>T, NR_120437.1:n.971C>T, NM_001369216.1:c.*605C>T, NR_120439.1:n.494C>T, NR_120440.1:n.471C>T

Select item 144628634119.

rs1446286341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:52108236 (GRCh38)
12:52502020 (GRCh37)
Canonical SPDI:: NC_000012.12:52108235:C:G,NC_000012.12:52108235:C:T
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.52108236C>G, NC_000012.12:g.52108236C>T, NC_000012.11:g.52502020C>G, NC_000012.11:g.52502020C>T, NR_120437.1:n.1419C>G, NR_120437.1:n.1419C>T, NM_001369216.1:c.*1053C>G, NM_001369216.1:c.*1053C>T, NR_120439.1:n.942C>G, NR_120439.1:n.942C>T, NR_120440.1:n.919C>G, NR_120440.1:n.919C>T

Select item 144508170120.

rs1445081701 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:52108314 (GRCh38)
12:52502098 (GRCh37)
Canonical SPDI:: NC_000012.12:52108313:A:C
Gene:: OR7E47P (Varview), LOC112268096 (Varview), SMIM41 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000043/6 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000012.12:g.52108314A>C, NC_000012.11:g.52502098A>C, NR_120437.1:n.1497A>C, NR_120439.1:n.1020A>C, NR_120440.1:n.997A>C

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