SNP Links for Protein (Select 52317150) - SNP

Links from Protein

Items: 1 to 20 of 386

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Select item 14892025721.

rs1489202572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:4640340 (GRCh38)
11:4661570 (GRCh37)
Canonical SPDI:: NC_000011.10:4640339:A:G
Gene:: OR51D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.4640340A>G, NC_000011.9:g.4661570A>G, NM_001004751.3:c.550A>G, NM_001004751.2:c.550A>G, NP_001004751.1:p.Thr184Ala

Select item 14875583592.

rs1487558359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:4640439 (GRCh38)
11:4661669 (GRCh37)
Canonical SPDI:: NC_000011.10:4640438:C:G
Gene:: OR51D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.4640439C>G, NC_000011.9:g.4661669C>G, NM_001004751.3:c.649C>G, NM_001004751.2:c.649C>G, NP_001004751.1:p.Leu217Val

Select item 14852338943.

rs1485233894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:4640124 (GRCh38)
11:4661354 (GRCh37)
Canonical SPDI:: NC_000011.10:4640123:G:A
Gene:: OR51D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.4640124G>A, NC_000011.9:g.4661354G>A, NM_001004751.3:c.334G>A, NM_001004751.2:c.334G>A, NP_001004751.1:p.Ala112Thr

Select item 14851988804.

rs1485198880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:4640515 (GRCh38)
11:4661745 (GRCh37)
Canonical SPDI:: NC_000011.10:4640514:C:G
Gene:: OR51D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4640515C>G, NC_000011.9:g.4661745C>G, NM_001004751.3:c.725C>G, NM_001004751.2:c.725C>G, NP_001004751.1:p.Ser242Cys

Select item 14829262395.

rs1482926239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:4640459 (GRCh38)
11:4661689 (GRCh37)
Canonical SPDI:: NC_000011.10:4640458:C:G,NC_000011.10:4640458:C:T
Gene:: OR51D1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.4640459C>G, NC_000011.10:g.4640459C>T, NC_000011.9:g.4661689C>G, NC_000011.9:g.4661689C>T, NM_001004751.3:c.669C>G, NM_001004751.3:c.669C>T, NM_001004751.2:c.669C>G, NM_001004751.2:c.669C>T, NP_001004751.1:p.Asp223Glu

Select item 14820311936.

rs1482031193 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:4640699 (GRCh38)
11:4661929 (GRCh37)
Canonical SPDI:: NC_000011.10:4640698:C:
Gene:: OR51D1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.4640699del, NC_000011.9:g.4661929del, NM_001004751.3:c.909del, NM_001004751.2:c.909del, NP_001004751.1:p.Tyr304fs

Select item 14815907037.

rs1481590703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:4640120 (GRCh38)
11:4661350 (GRCh37)
Canonical SPDI:: NC_000011.10:4640119:C:T
Gene:: OR51D1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.4640120C>T, NC_000011.9:g.4661350C>T, NM_001004751.3:c.330C>T, NM_001004751.2:c.330C>T

Select item 14806950128.

rs1480695012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:4639825 (GRCh38)
11:4661055 (GRCh37)
Canonical SPDI:: NC_000011.10:4639824:C:A
Gene:: OR51D1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4639825C>A, NC_000011.9:g.4661055C>A, NM_001004751.3:c.35C>A, NM_001004751.2:c.35C>A, NP_001004751.1:p.Ala12Asp

Select item 14750487129.

rs1475048712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:4639835 (GRCh38)
11:4661065 (GRCh37)
Canonical SPDI:: NC_000011.10:4639834:T:G
Gene:: OR51D1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4639835T>G, NC_000011.9:g.4661065T>G, NM_001004751.3:c.45T>G, NM_001004751.2:c.45T>G, NP_001004751.1:p.Asn15Lys

Select item 147475568010.

rs1474755680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:4640187 (GRCh38)
11:4661417 (GRCh37)
Canonical SPDI:: NC_000011.10:4640186:T:C
Gene:: OR51D1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.4640187T>C, NC_000011.9:g.4661417T>C, NM_001004751.3:c.397T>C, NM_001004751.2:c.397T>C, NP_001004751.1:p.Phe133Leu

Select item 147341385711.

rs1473413857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:4640106 (GRCh38)
11:4661336 (GRCh37)
Canonical SPDI:: NC_000011.10:4640105:G:A
Gene:: OR51D1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.4640106G>A, NC_000011.9:g.4661336G>A, NM_001004751.3:c.316G>A, NM_001004751.2:c.316G>A, NP_001004751.1:p.Glu106Lys

Select item 146835875712.

rs1468358757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:4640623 (GRCh38)
11:4661853 (GRCh37)
Canonical SPDI:: NC_000011.10:4640622:G:A
Gene:: OR51D1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4640623G>A, NC_000011.9:g.4661853G>A, NM_001004751.3:c.833G>A, NM_001004751.2:c.833G>A, NP_001004751.1:p.Gly278Asp

Select item 146468251513.

rs1464682515 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:4640644 (GRCh38)
11:4661874 (GRCh37)
Canonical SPDI:: NC_000011.10:4640643:A:G
Gene:: OR51D1 (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_000011.10:g.4640644A>G, NC_000011.9:g.4661874A>G, NM_001004751.3:c.854A>G, NM_001004751.2:c.854A>G, NP_001004751.1:p.His285Arg

Select item 146364232714.

rs1463642327 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:4639858 (GRCh38)
11:4661088 (GRCh37)
Canonical SPDI:: NC_000011.10:4639857:A:G
Gene:: OR51D1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4639858A>G, NC_000011.9:g.4661088A>G, NM_001004751.3:c.68A>G, NM_001004751.2:c.68A>G, NP_001004751.1:p.Tyr23Cys

Select item 144773496515.

rs1447734965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:4640223 (GRCh38)
11:4661453 (GRCh37)
Canonical SPDI:: NC_000011.10:4640222:C:G
Gene:: OR51D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.4640223C>G, NC_000011.9:g.4661453C>G, NM_001004751.3:c.433C>G, NM_001004751.2:c.433C>G, NP_001004751.1:p.His145Asp

Select item 144639161616.

rs1446391616 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:4640233 (GRCh38)
11:4661463 (GRCh37)
Canonical SPDI:: NC_000011.10:4640232:T:
Gene:: OR51D1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.4640233del, NC_000011.9:g.4661463del, NM_001004751.3:c.443del, NM_001004751.2:c.443del, NP_001004751.1:p.Val148fs

Select item 144563087017.

rs1445630870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:4639957 (GRCh38)
11:4661187 (GRCh37)
Canonical SPDI:: NC_000011.10:4639956:T:C
Gene:: OR51D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.4639957T>C, NC_000011.9:g.4661187T>C, NM_001004751.3:c.167T>C, NM_001004751.2:c.167T>C, NP_001004751.1:p.Leu56Pro

Select item 144098597218.

rs1440985972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:4640070 (GRCh38)
11:4661300 (GRCh37)
Canonical SPDI:: NC_000011.10:4640069:A:G,NC_000011.10:4640069:A:T
Gene:: OR51D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.4640070A>G, NC_000011.10:g.4640070A>T, NC_000011.9:g.4661300A>G, NC_000011.9:g.4661300A>T, NM_001004751.3:c.280A>G, NM_001004751.3:c.280A>T, NM_001004751.2:c.280A>G, NM_001004751.2:c.280A>T, NP_001004751.1:p.Met94Val, NP_001004751.1:p.Met94Leu

Select item 143560538519.

rs1435605385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:4639936 (GRCh38)
11:4661166 (GRCh37)
Canonical SPDI:: NC_000011.10:4639935:C:T
Gene:: OR51D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4639936C>T, NC_000011.9:g.4661166C>T, NM_001004751.3:c.146C>T, NM_001004751.2:c.146C>T, NP_001004751.1:p.Ala49Val

Select item 143457350320.

rs1434573503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:4640289 (GRCh38)
11:4661519 (GRCh37)
Canonical SPDI:: NC_000011.10:4640288:G:A
Gene:: OR51D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.4640289G>A, NC_000011.9:g.4661519G>A, NM_001004751.3:c.499G>A, NM_001004751.2:c.499G>A, NP_001004751.1:p.Val167Ile

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