SNP Links for Gene (Select 127074) - SNP

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Items: 1 to 20 of 1014

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Select item 14909156541.

rs1490915654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248360530 (GRCh38)
1:248523832 (GRCh37)
Canonical SPDI:: NC_000001.11:248360529:T:C
Gene:: OR2T4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.248360530T>C, NC_000001.10:g.248523832T>C, NW_025791755.1:g.8504T>C, NT_187518.1:g.8504T>C, NT_187646.1:g.8504T>C

Select item 14904936042.

rs1490493604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:248363047 (GRCh38)
1:248526349 (GRCh37)
Canonical SPDI:: NC_000001.11:248363046:A:G
Gene:: OR2T4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.248363047A>G, NC_000001.10:g.248526349A>G, NW_025791755.1:g.11021A>G, NT_187518.1:g.11021A>G, NT_187646.1:g.11021A>G

Select item 14900765583.

rs1490076558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:248363031 (GRCh38)
1:248526333 (GRCh37)
Canonical SPDI:: NC_000001.11:248363030:G:A,NC_000001.11:248363030:G:C
Gene:: OR2T4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.248363031G>A, NC_000001.11:g.248363031G>C, NC_000001.10:g.248526333G>A, NC_000001.10:g.248526333G>C, NW_025791755.1:g.11005G>A, NW_025791755.1:g.11005G>C, NT_187518.1:g.11005G>A, NT_187518.1:g.11005G>C, NT_187646.1:g.11005G>A, NT_187646.1:g.11005G>C

Select item 14886364854.

rs1488636485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:248361262 (GRCh38)
1:248524564 (GRCh37)
Canonical SPDI:: NC_000001.11:248361261:G:C
Gene:: OR2T4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.248361262G>C, NC_000001.10:g.248524564G>C, NW_025791755.1:g.9236G>C, NT_187518.1:g.9236G>C, NT_187646.1:g.9236G>C

Select item 14878361705.

rs1487836170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:248361166 (GRCh38)
1:248524468 (GRCh37)
Canonical SPDI:: NC_000001.11:248361165:T:G
Gene:: OR2T4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.248361166T>G, NC_000001.10:g.248524468T>G, NW_025791755.1:g.9140T>G, NT_187518.1:g.9140T>G, NT_187646.1:g.9140T>G

Select item 14877504716.

rs1487750471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:248360496 (GRCh38)
1:248523798 (GRCh37)
Canonical SPDI:: NC_000001.11:248360495:C:A
Gene:: OR2T4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.248360496C>A, NC_000001.10:g.248523798C>A, NW_025791755.1:g.8470C>A, NT_187518.1:g.8470C>A, NT_187646.1:g.8470C>A

Select item 14862141467.

rs1486214146 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:248359959 (GRCh38)
1:248523261 (GRCh37)
Canonical SPDI:: NC_000001.11:248359958:G:
Gene:: OR2T4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.248359959del, NC_000001.10:g.248523261del, NW_025791755.1:g.7933del, NT_187518.1:g.7933del, NT_187646.1:g.7933del

Select item 14859690618.

rs1485969061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:248362102 (GRCh38)
1:248525404 (GRCh37)
Canonical SPDI:: NC_000001.11:248362101:C:T
Gene:: OR2T4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.248362102C>T, NC_000001.10:g.248525404C>T, NW_025791755.1:g.10076C>T, NT_187518.1:g.10076C>T, NT_187646.1:g.10076C>T, NM_001004696.2:c.438C>T, NM_001004696.1:c.522C>T

Select item 14852803719.

rs1485280371 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:248361654 (GRCh38)
1:248524956 (GRCh37)
Canonical SPDI:: NC_000001.11:248361653:CC:
Gene:: OR2T4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.248361654_248361655del, NC_000001.10:g.248524956_248524957del, NW_025791755.1:g.9628_9629del, NT_187518.1:g.9628_9629del, NT_187646.1:g.9628_9629del, NM_001004696.1:c.74_75del

Select item 148458053310.

rs1484580533 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCTTACAT>- [Show Flanks]
Chromosome:: 1:248360473 (GRCh38)
1:248523775 (GRCh37)
Canonical SPDI:: NC_000001.11:248360468:ACATACCTTACAT:ACAT
Gene:: OR2T4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ACAT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.248360473_248360481del, NC_000001.10:g.248523775_248523783del, NW_025791755.1:g.8447_8455del, NT_187518.1:g.8447_8455del, NT_187646.1:g.8447_8455del

Select item 148386221711.

rs1483862217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248360364 (GRCh38)
1:248523666 (GRCh37)
Canonical SPDI:: NC_000001.11:248360363:T:C
Gene:: OR2T4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.248360364T>C, NC_000001.10:g.248523666T>C, NW_025791755.1:g.8338T>C, NT_187518.1:g.8338T>C, NT_187646.1:g.8338T>C

Select item 148188584012.

rs1481885840 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:248362475 (GRCh38)
1:248525778 (GRCh37)
Canonical SPDI:: NC_000001.11:248362475:CCCC:CCCCC
Gene:: OR2T4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
HGVS:: NC_000001.11:g.248362479dup, NC_000001.10:g.248525781dup, NW_025791755.1:g.10453dup, NT_187518.1:g.10453dup, NT_187646.1:g.10453dup, NM_001004696.2:c.815dup, NM_001004696.1:c.899dup, NP_001004696.2:p.Pro272_Glu273insTer

Select item 148153713513.

rs1481537135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:248360343 (GRCh38)
1:248523645 (GRCh37)
Canonical SPDI:: NC_000001.11:248360342:C:T
Gene:: OR2T4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.0001/14 (GnomAD)
T=0.000102/27 (TOPMED)
HGVS:: NC_000001.11:g.248360343C>T, NC_000001.10:g.248523645C>T, NW_025791755.1:g.8317C>T, NT_187518.1:g.8317C>T, NT_187646.1:g.8317C>T

Select item 148090925114.

rs1480909251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:248361732 (GRCh38)
1:248525034 (GRCh37)
Canonical SPDI:: NC_000001.11:248361731:G:A
Gene:: OR2T4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.248361732G>A, NC_000001.10:g.248525034G>A, NW_025791755.1:g.9706G>A, NT_187518.1:g.9706G>A, NT_187646.1:g.9706G>A, NM_001004696.2:c.68G>A, NM_001004696.1:c.152G>A, NP_001004696.2:p.Arg23Lys

Select item 148059155915.

rs1480591559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248362229 (GRCh38)
1:248525531 (GRCh37)
Canonical SPDI:: NC_000001.11:248362228:T:C
Gene:: OR2T4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.248362229T>C, NC_000001.10:g.248525531T>C, NW_025791755.1:g.10203T>C, NT_187518.1:g.10203T>C, NT_187646.1:g.10203T>C, NM_001004696.2:c.565T>C, NM_001004696.1:c.649T>C

Select item 148019573716.

rs1480195737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:248362858 (GRCh38)
1:248526160 (GRCh37)
Canonical SPDI:: NC_000001.11:248362857:C:G
Gene:: OR2T4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.248362858C>G, NC_000001.10:g.248526160C>G, NW_025791755.1:g.10832C>G, NT_187518.1:g.10832C>G, NT_187646.1:g.10832C>G

Select item 147906332817.

rs1479063328 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248360767 (GRCh38)
1:248524069 (GRCh37)
Canonical SPDI:: NC_000001.11:248360766:T:C
Gene:: OR2T4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.248360767T>C, NC_000001.10:g.248524069T>C, NW_025791755.1:g.8741T>C, NT_187518.1:g.8741T>C, NT_187646.1:g.8741T>C

Select item 147901165118.

rs1479011651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:248361725 (GRCh38)
1:248525027 (GRCh37)
Canonical SPDI:: NC_000001.11:248361724:C:A,NC_000001.11:248361724:C:G
Gene:: OR2T4 (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_000001.11:g.248361725C>A, NC_000001.11:g.248361725C>G, NC_000001.10:g.248525027C>A, NC_000001.10:g.248525027C>G, NW_025791755.1:g.9699C>A, NW_025791755.1:g.9699C>G, NT_187518.1:g.9699C>A, NT_187518.1:g.9699C>G, NT_187646.1:g.9699C>A, NT_187646.1:g.9699C>G, NM_001004696.2:c.61C>A, NM_001004696.2:c.61C>G, NM_001004696.1:c.145C>A, NM_001004696.1:c.145C>G, NP_001004696.2:p.Leu21Ile, NP_001004696.2:p.Leu21Val

Select item 147566686819.

rs1475666868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:248362648 (GRCh38)
1:248525950 (GRCh37)
Canonical SPDI:: NC_000001.11:248362647:C:A
Gene:: OR2T4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.248362648C>A, NC_000001.10:g.248525950C>A, NW_025791755.1:g.10622C>A, NT_187518.1:g.10622C>A, NT_187646.1:g.10622C>A

Select item 147562848020.

rs1475628480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:248359711 (GRCh38)
1:248523013 (GRCh37)
Canonical SPDI:: NC_000001.11:248359710:C:G,NC_000001.11:248359710:C:T
Gene:: OR2T4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.248359711C>G, NC_000001.11:g.248359711C>T, NC_000001.10:g.248523013C>G, NC_000001.10:g.248523013C>T, NW_025791755.1:g.7685C>G, NW_025791755.1:g.7685C>T, NT_187518.1:g.7685C>G, NT_187518.1:g.7685C>T, NT_187646.1:g.7685C>G, NT_187646.1:g.7685C>T

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