SNP Links for Protein (Select 53850576) - SNP

Links from Protein

Items: 1 to 20 of 374

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Select item 14866125251.

rs1486612525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:122800445 (GRCh38)
9:125562724 (GRCh37)
Canonical SPDI:: NC_000009.12:122800444:T:C
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122800445T>C, NC_000009.11:g.125562724T>C, NM_080859.1:c.323T>C, NP_543135.1:p.Leu108Pro

Select item 14805313072.

rs1480531307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:122800303 (GRCh38)
9:125562582 (GRCh37)
Canonical SPDI:: NC_000009.12:122800302:T:C
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122800303T>C, NC_000009.11:g.125562582T>C, NM_080859.1:c.181T>C, NP_543135.1:p.Tyr61His

Select item 14773940613.

rs1477394061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122800240 (GRCh38)
9:125562519 (GRCh37)
Canonical SPDI:: NC_000009.12:122800239:C:T
Gene:: OR1K1 (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=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.122800240C>T, NC_000009.11:g.125562519C>T, NM_080859.1:c.118C>T, NP_543135.1:p.Leu40Phe

Select item 14766583334.

rs1476658333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:122800356 (GRCh38)
9:125562635 (GRCh37)
Canonical SPDI:: NC_000009.12:122800355:T:C
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.122800356T>C, NC_000009.11:g.125562635T>C, NM_080859.1:c.234T>C

Select item 14753120205.

rs1475312020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:122800572 (GRCh38)
9:125562851 (GRCh37)
Canonical SPDI:: NC_000009.12:122800571:G:C
Gene:: OR1K1 (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_000009.12:g.122800572G>C, NC_000009.11:g.125562851G>C, NM_080859.1:c.450G>C, NP_543135.1:p.Trp150Cys

Select item 14702836936.

rs1470283693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122800810 (GRCh38)
9:125563089 (GRCh37)
Canonical SPDI:: NC_000009.12:122800809:C:T
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122800810C>T, NC_000009.11:g.125563089C>T, NM_080859.1:c.688C>T, NP_543135.1:p.Pro230Ser

Select item 14692099887.

rs1469209988 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:122800545 (GRCh38)
9:125562824 (GRCh37)
Canonical SPDI:: NC_000009.12:122800544:G:A
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.122800545G>A, NC_000009.11:g.125562824G>A, NM_080859.1:c.423G>A, NP_543135.1:p.Met141Ile

Select item 14685717618.

rs1468571761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:122800526 (GRCh38)
9:125562805 (GRCh37)
Canonical SPDI:: NC_000009.12:122800525:C:G,NC_000009.12:122800525:C:T
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000009.12:g.122800526C>G, NC_000009.12:g.122800526C>T, NC_000009.11:g.125562805C>G, NC_000009.11:g.125562805C>T, NM_080859.1:c.404C>G, NM_080859.1:c.404C>T, NP_543135.1:p.Thr135Arg, NP_543135.1:p.Thr135Met

Select item 14670856049.

rs1467085604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:122800258 (GRCh38)
9:125562537 (GRCh37)
Canonical SPDI:: NC_000009.12:122800257:A:G
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000087/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122800258A>G, NC_000009.11:g.125562537A>G, NM_080859.1:c.136A>G, NP_543135.1:p.Ile46Val

Select item 146565650010.

rs1465656500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:122800326 (GRCh38)
9:125562605 (GRCh37)
Canonical SPDI:: NC_000009.12:122800325:C:A
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.122800326C>A, NC_000009.11:g.125562605C>A, NM_080859.1:c.204C>A

Select item 146300832411.

rs1463008324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122800785 (GRCh38)
9:125563064 (GRCh37)
Canonical SPDI:: NC_000009.12:122800784:C:T
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122800785C>T, NC_000009.11:g.125563064C>T, NM_080859.1:c.663C>T

Select item 146205858212.

rs1462058582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:122800601 (GRCh38)
9:125562880 (GRCh37)
Canonical SPDI:: NC_000009.12:122800600:A:G
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122800601A>G, NC_000009.11:g.125562880A>G, NM_080859.1:c.479A>G, NP_543135.1:p.Tyr160Cys

Select item 146059460913.

rs1460594609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:122800211 (GRCh38)
9:125562490 (GRCh37)
Canonical SPDI:: NC_000009.12:122800210:T:G
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.122800211T>G, NC_000009.11:g.125562490T>G, NM_080859.1:c.89T>G, NP_543135.1:p.Val30Gly

Select item 145568535614.

rs1455685356 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 9:122801066 (GRCh38)
9:125563345 (GRCh37)
Canonical SPDI:: NC_000009.12:122801065:A:C,NC_000009.12:122801065:A:T
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.122801066A>C, NC_000009.12:g.122801066A>T, NC_000009.11:g.125563345A>C, NC_000009.11:g.125563345A>T, NM_080859.1:c.944A>C, NM_080859.1:c.944A>T, NP_543135.1:p.Asp315Ala, NP_543135.1:p.Asp315Val

Select item 145550469415.

rs1455504694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122800476 (GRCh38)
9:125562755 (GRCh37)
Canonical SPDI:: NC_000009.12:122800475:C:T
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.122800476C>T, NC_000009.11:g.125562755C>T, NM_080859.1:c.354C>T

Select item 145512882816.

rs1455128828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122800155 (GRCh38)
9:125562434 (GRCh37)
Canonical SPDI:: NC_000009.12:122800154:C:T
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000009.12:g.122800155C>T, NC_000009.11:g.125562434C>T, NM_080859.1:c.33C>T

Select item 145069465317.

rs1450694653 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCTG [Show Flanks]
Chromosome:: 9:122800403 (GRCh38)
9:125562683 (GRCh37)
Canonical SPDI:: NC_000009.12:122800403:GCTGGCTGGCTG:GCTGGCTGGCTGGCTG
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GCTGGCTGGCTGGCTG=0./0 (ALFA)
GCTG=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.122800404GCTG[4], NC_000009.11:g.125562683GCTG[4], NM_080859.1:c.290_293dup, NP_543135.1:p.Cys98fs

Select item 144986241618.

rs1449862416 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 9:122801018 (GRCh38)
9:125563297 (GRCh37)
Canonical SPDI:: NC_000009.12:122801017:A:
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.122801018del, NC_000009.11:g.125563297del, NM_080859.1:c.896del, NP_543135.1:p.Gln299fs

Select item 144849787519.

rs1448497875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:122800991 (GRCh38)
9:125563270 (GRCh37)
Canonical SPDI:: NC_000009.12:122800990:T:C
Gene:: OR1K1 (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=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.122800991T>C, NC_000009.11:g.125563270T>C, NM_080859.1:c.869T>C, NP_543135.1:p.Ile290Thr

Select item 144833695220.

rs1448336952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:122800811 (GRCh38)
9:125563090 (GRCh37)
Canonical SPDI:: NC_000009.12:122800810:C:T
Gene:: OR1K1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000248/4 (TOMMO)
HGVS:: NC_000009.12:g.122800811C>T, NC_000009.11:g.125563090C>T, NM_080859.1:c.689C>T, NP_543135.1:p.Pro230Leu

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