SNP Links for Protein (Select 53828670) - SNP

Links from Protein

Items: 1 to 20 of 353

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Select item 14877041191.

rs1487704119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:180739775 (GRCh38)
5:180166775 (GRCh37)
Canonical SPDI:: NC_000005.10:180739774:C:T
Gene:: OR2Y1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180739775C>T, NC_000005.9:g.180166775C>T, NM_001001657.1:c.284G>A, NP_001001657.1:p.Gly95Glu

Select item 14859332982.

rs1485933298 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:180739175 (GRCh38)
5:180166175 (GRCh37)
Canonical SPDI:: NC_000005.10:180739174:T:C
Gene:: OR2Y1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180739175T>C, NC_000005.9:g.180166175T>C, NM_001001657.1:c.884A>G, NP_001001657.1:p.Asp295Gly

Select item 14715525143.

rs1471552514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:180739665 (GRCh38)
5:180166665 (GRCh37)
Canonical SPDI:: NC_000005.10:180739664:A:G
Gene:: OR2Y1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.180739665A>G, NC_000005.9:g.180166665A>G, NM_001001657.1:c.394T>C, NP_001001657.1:p.Tyr132His

Select item 14708436054.

rs1470843605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:180739596 (GRCh38)
5:180166596 (GRCh37)
Canonical SPDI:: NC_000005.10:180739595:T:C
Gene:: OR2Y1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180739596T>C, NC_000005.9:g.180166596T>C, NM_001001657.1:c.463A>G, NP_001001657.1:p.Asn155Asp

Select item 14674528515.

rs1467452851 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:180739367 (GRCh38)
5:180166368 (GRCh37)
Canonical SPDI:: NC_000005.10:180739367:CC:CCC
Gene:: OR2Y1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000005.10:g.180739369dup, NC_000005.9:g.180166369dup, NM_001001657.1:c.691dup, NP_001001657.1:p.Ala231fs

Select item 14630659666.

rs1463065966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:180739415 (GRCh38)
5:180166415 (GRCh37)
Canonical SPDI:: NC_000005.10:180739414:C:A
Gene:: OR2Y1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.180739415C>A, NC_000005.9:g.180166415C>A, NM_001001657.1:c.644G>T, NP_001001657.1:p.Gly215Val

Select item 14576360397.

rs1457636039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:180739577 (GRCh38)
5:180166577 (GRCh37)
Canonical SPDI:: NC_000005.10:180739576:C:T
Gene:: OR2Y1 (Varview)
Functional Consequence:: missense_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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.180739577C>T, NC_000005.9:g.180166577C>T, NM_001001657.1:c.482G>A, NP_001001657.1:p.Gly161Asp

Select item 14567661838.

rs1456766183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:180739926 (GRCh38)
5:180166926 (GRCh37)
Canonical SPDI:: NC_000005.10:180739925:T:C
Gene:: OR2Y1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.180739926T>C, NC_000005.9:g.180166926T>C, NM_001001657.1:c.133A>G, NP_001001657.1:p.Ile45Val

Select item 14563120629.

rs1456312062 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:180739271 (GRCh38)
5:180166271 (GRCh37)
Canonical SPDI:: NC_000005.10:180739270:T:C
Gene:: OR2Y1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180739271T>C, NC_000005.9:g.180166271T>C, NM_001001657.1:c.788A>G, NP_001001657.1:p.His263Arg

Select item 145245392310.

rs1452453923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:180739257 (GRCh38)
5:180166257 (GRCh37)
Canonical SPDI:: NC_000005.10:180739256:G:A
Gene:: OR2Y1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.180739257G>A, NC_000005.9:g.180166257G>A, NM_001001657.1:c.802C>T, NP_001001657.1:p.Arg268Cys

Select item 144954385011.

rs1449543850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:180739299 (GRCh38)
5:180166299 (GRCh37)
Canonical SPDI:: NC_000005.10:180739298:C:T
Gene:: OR2Y1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.180739299C>T, NC_000005.9:g.180166299C>T, NM_001001657.1:c.760G>A, NP_001001657.1:p.Ala254Thr

Select item 143892605112.

rs1438926051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:180739654 (GRCh38)
5:180166654 (GRCh37)
Canonical SPDI:: NC_000005.10:180739653:G:C
Gene:: OR2Y1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180739654G>C, NC_000005.9:g.180166654G>C, NM_001001657.1:c.405C>G, NP_001001657.1:p.Ile135Met

Select item 143692183413.

rs1436921834 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:180739216 (GRCh38)
5:180166216 (GRCh37)
Canonical SPDI:: NC_000005.10:180739215:G:C,NC_000005.10:180739215:G:T
Gene:: OR2Y1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.180739216G>C, NC_000005.10:g.180739216G>T, NC_000005.9:g.180166216G>C, NC_000005.9:g.180166216G>T, NM_001001657.1:c.843C>G, NM_001001657.1:c.843C>A

Select item 143660019614.

rs1436600196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:180739733 (GRCh38)
5:180166733 (GRCh37)
Canonical SPDI:: NC_000005.10:180739732:G:A
Gene:: OR2Y1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180739733G>A, NC_000005.9:g.180166733G>A, NM_001001657.1:c.326C>T, NP_001001657.1:p.Ser109Phe

Select item 143492361515.

rs1434923615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:180739769 (GRCh38)
5:180166769 (GRCh37)
Canonical SPDI:: NC_000005.10:180739768:C:T
Gene:: OR2Y1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.180739769C>T, NC_000005.9:g.180166769C>T, NM_001001657.1:c.290G>A, NP_001001657.1:p.Cys97Tyr

Select item 143473507416.

rs1434735074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:180739448 (GRCh38)
5:180166448 (GRCh37)
Canonical SPDI:: NC_000005.10:180739447:A:G
Gene:: OR2Y1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180739448A>G, NC_000005.9:g.180166448A>G, NM_001001657.1:c.611T>C, NP_001001657.1:p.Ile204Thr

Select item 143377445817.

rs1433774458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:180739989 (GRCh38)
5:180166989 (GRCh37)
Canonical SPDI:: NC_000005.10:180739988:C:T
Gene:: OR2Y1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.180739989C>T, NC_000005.9:g.180166989C>T, NM_001001657.1:c.70G>A, NP_001001657.1:p.Glu24Lys

Select item 143350019018.

rs1433500190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:180739992 (GRCh38)
5:180166992 (GRCh37)
Canonical SPDI:: NC_000005.10:180739991:G:T
Gene:: OR2Y1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.180739992G>T, NC_000005.9:g.180166992G>T, NM_001001657.1:c.67C>A, NP_001001657.1:p.Leu23Met

Select item 142604670519.

rs1426046705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:180739911 (GRCh38)
5:180166911 (GRCh37)
Canonical SPDI:: NC_000005.10:180739910:A:C,NC_000005.10:180739910:A:G
Gene:: OR2Y1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.180739911A>C, NC_000005.10:g.180739911A>G, NC_000005.9:g.180166911A>C, NC_000005.9:g.180166911A>G, NM_001001657.1:c.148T>G, NM_001001657.1:c.148T>C, NP_001001657.1:p.Trp50Gly, NP_001001657.1:p.Trp50Arg

Select item 142436425020.

rs1424364250 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:180739983 (GRCh38)
5:180166983 (GRCh37)
Canonical SPDI:: NC_000005.10:180739982:T:C
Gene:: OR2Y1 (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_000005.10:g.180739983T>C, NC_000005.9:g.180166983T>C, NM_001001657.1:c.76A>G, NP_001001657.1:p.Ile26Val

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