SNP Links for Gene (Select 81285) - SNP

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Select item 14910811011.

rs1491081101 has merged into rs35696657 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:4698427 (GRCh38)
11:4719657 (GRCh37)
Canonical SPDI:: NC_000011.10:4698417:TTTTTTTTTTT:TTTTTTTTT,NC_000011.10:4698417:TTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:4698417:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:4698417:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:4698417:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:4698417:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: OR51E2 (Varview), OR51C1P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0./0 (GENOME_DK)
T=0.007/26 (TWINSUK)
T=0.0086/33 (ALSPAC)
T=0.0884/412 (1000Genomes)
HGVS:: NC_000011.10:g.4698427_4698428del, NC_000011.10:g.4698428del, NC_000011.10:g.4698428dup, NC_000011.10:g.4698427_4698428dup, NC_000011.10:g.4698422_4698428dup, NC_000011.10:g.4698418_4698428dup, NC_000011.9:g.4719657_4719658del, NC_000011.9:g.4719658del, NC_000011.9:g.4719658dup, NC_000011.9:g.4719657_4719658dup, NC_000011.9:g.4719652_4719658dup, NC_000011.9:g.4719648_4719658dup

Select item 14910417082.

rs1491041708 has merged into rs535692653 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA [Show Flanks]
Chromosome:: 11:4694573 (GRCh38)
11:4715803 (GRCh37)
Canonical SPDI:: NC_000011.10:4694565:ATATATATATA:ATATATA,NC_000011.10:4694565:ATATATATATA:ATATATATA,NC_000011.10:4694565:ATATATATATA:ATATATATATATA,NC_000011.10:4694565:ATATATATATA:ATATATATATATATA,NC_000011.10:4694565:ATATATATATA:ATATATATATATATATA,NC_000011.10:4694565:ATATATATATA:ATATATATATATATATATA
Gene:: OR51E2 (Varview), OR51C1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATA=0./0 (ALFA)
AT=0.2/8 (GENOME_DK)
HGVS:: NC_000011.10:g.4694567TA[3], NC_000011.10:g.4694567TA[4], NC_000011.10:g.4694567TA[6], NC_000011.10:g.4694567TA[7], NC_000011.10:g.4694567TA[8], NC_000011.10:g.4694567TA[9], NC_000011.9:g.4715797TA[3], NC_000011.9:g.4715797TA[4], NC_000011.9:g.4715797TA[6], NC_000011.9:g.4715797TA[7], NC_000011.9:g.4715797TA[8], NC_000011.9:g.4715797TA[9]

Select item 14909768113.

rs1490976811 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: 11:4682116 (GRCh38)
11:4703346 (GRCh37)
Canonical SPDI:: NC_000011.10:4682114:AAGA:A
Gene:: OR51E2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4682116_4682118del, NC_000011.9:g.4703346_4703348del, NM_030774.4:c.595_597del, NM_030774.3:c.595_597del, NP_110401.1:p.Leu199del

Select item 14909454284.

rs1490945428 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:4695429 (GRCh38)
11:4716659 (GRCh37)
Canonical SPDI:: NC_000011.10:4695428:T:A
Gene:: OR51E2 (Varview), OR51C1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.4695429T>A, NC_000011.9:g.4716659T>A

Select item 14907564855.

rs1490756485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:4699174 (GRCh38)
11:4720404 (GRCh37)
Canonical SPDI:: NC_000011.10:4699173:G:C
Gene:: OR51E2 (Varview), OR51C1P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.4699174G>C, NC_000011.9:g.4720404G>C

Select item 14907207796.

rs1490720779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:4697033 (GRCh38)
11:4718263 (GRCh37)
Canonical SPDI:: NC_000011.10:4697032:A:G
Gene:: OR51E2 (Varview), OR51C1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.4697033A>G, NC_000011.9:g.4718263A>G

Select item 14905943187.

rs1490594318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:4697986 (GRCh38)
11:4719216 (GRCh37)
Canonical SPDI:: NC_000011.10:4697985:C:G,NC_000011.10:4697985:C:T
Gene:: OR51E2 (Varview), OR51C1P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.4697986C>G, NC_000011.10:g.4697986C>T, NC_000011.9:g.4719216C>G, NC_000011.9:g.4719216C>T

Select item 14904965818.

rs1490496581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:4679840 (GRCh38)
11:4701070 (GRCh37)
Canonical SPDI:: NC_000011.10:4679839:C:G
Gene:: OR51E2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.4679840C>G, NC_000011.9:g.4701070C>G

Select item 14904541659.

rs1490454165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:4694950 (GRCh38)
11:4716180 (GRCh37)
Canonical SPDI:: NC_000011.10:4694949:T:G
Gene:: OR51E2 (Varview), OR51C1P (Varview)
Functional Consequence:: intron_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.4694950T>G, NC_000011.9:g.4716180T>G

Select item 149022242110.

rs1490222421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:4687482 (GRCh38)
11:4708712 (GRCh37)
Canonical SPDI:: NC_000011.10:4687481:T:A,NC_000011.10:4687481:T:C
Gene:: OR51E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.4687482T>A, NC_000011.10:g.4687482T>C, NC_000011.9:g.4708712T>A, NC_000011.9:g.4708712T>C

Select item 148999811211.

rs1489998112 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:4682624 (GRCh38)
11:4703854 (GRCh37)
Canonical SPDI:: NC_000011.10:4682623:GGGGG:GGGG
Gene:: OR51E2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4682628del, NC_000011.9:g.4703858del, NM_030774.4:c.88del, NM_030774.3:c.88del, NP_110401.1:p.Leu30fs

Select item 148998618512.

rs1489986185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:4693854 (GRCh38)
11:4715084 (GRCh37)
Canonical SPDI:: NC_000011.10:4693853:G:A
Gene:: OR51E2 (Varview), OR51C1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.4693854G>A, NC_000011.9:g.4715084G>A

Select item 148988569913.

rs1489885699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:4691328 (GRCh38)
11:4712558 (GRCh37)
Canonical SPDI:: NC_000011.10:4691327:A:G
Gene:: OR51E2 (Varview), OR51C1P (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4691328A>G, NC_000011.9:g.4712558A>G, NM_001396051.1:c.369T>C

Select item 148977598414.

rs1489775984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:4693718 (GRCh38)
11:4714948 (GRCh37)
Canonical SPDI:: NC_000011.10:4693717:T:C
Gene:: OR51E2 (Varview), OR51C1P (Varview)
Functional Consequence:: intron_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.4693718T>C, NC_000011.9:g.4714948T>C

Select item 148972075215.

rs1489720752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:4691195 (GRCh38)
11:4712425 (GRCh37)
Canonical SPDI:: NC_000011.10:4691194:A:G
Gene:: OR51E2 (Varview), OR51C1P (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.4691195A>G, NC_000011.9:g.4712425A>G, NM_001396051.1:c.502T>C, NP_001382980.1:p.Tyr168His

Select item 148956464116.

rs1489564641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:4684740 (GRCh38)
11:4705970 (GRCh37)
Canonical SPDI:: NC_000011.10:4684739:A:T
Gene:: OR51E2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000223/1 (Estonian)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000011.10:g.4684740A>T, NC_000011.9:g.4705970A>T

Select item 148930621217.

rs1489306212 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:4690624 (GRCh38)
11:4711854 (GRCh37)
Canonical SPDI:: NC_000011.10:4690623:A:G
Gene:: OR51E2 (Varview), OR51C1P (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.4690624A>G, NC_000011.9:g.4711854A>G, NM_001396051.1:c.*134T>C

Select item 148896271418.

rs1488962714 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:4687311 (GRCh38)
11:4708541 (GRCh37)
Canonical SPDI:: NC_000011.10:4687310:A:G
Gene:: OR51E2 (Varview)
Functional Consequence:: intron_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_000011.10:g.4687311A>G, NC_000011.9:g.4708541A>G

Select item 148879889419.

rs1488798894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:4696267 (GRCh38)
11:4717497 (GRCh37)
Canonical SPDI:: NC_000011.10:4696266:C:G
Gene:: OR51E2 (Varview), OR51C1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.4696267C>G, NC_000011.9:g.4717497C>G

Select item 148876346120.

rs1488763461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:4680964 (GRCh38)
11:4702194 (GRCh37)
Canonical SPDI:: NC_000011.10:4680963:C:A
Gene:: OR51E2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000011.10:g.4680964C>A, NC_000011.9:g.4702194C>A, NM_030774.4:c.*785G>T, NM_030774.3:c.*785G>T

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