SNP Links for Protein (Select 28395049) - SNP

Select item 14849109841.

rs1484910984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:73069510 (GRCh38)
4:73935227 (GRCh37)
Canonical SPDI:: NC_000004.12:73069509:G:A
Gene:: COX18 (Varview), LOC112268467 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000015/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73069510G>A, NC_000004.11:g.73935227G>A, XM_005265680.6:c.140C>T, XM_005265680.5:c.140C>T, XM_005265680.4:c.140C>T, XM_005265680.3:c.140C>T, XM_005265680.2:c.140C>T, XM_005265680.1:c.140C>T, NM_173827.4:c.140C>T, NM_173827.3:c.140C>T, NM_173827.2:c.140C>T, XM_017008045.3:c.140C>T, XM_017008045.2:c.140C>T, XM_017008045.1:c.140C>T, NM_001297733.2:c.-318C>T, NM_001297733.1:c.-318C>T, NM_001297732.2:c.140C>T, NM_001297732.1:c.140C>T, NM_001300729.1:c.250C>T, NM_001033760.1:c.140C>T, XP_005265737.1:p.Ser47Phe, NP_776188.1:p.Ser47Phe, XP_016863534.1:p.Ser47Phe, NP_001284661.1:p.Ser47Phe

Select item 14844677982.

rs1484467798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:73069337 (GRCh38)
4:73935054 (GRCh37)
Canonical SPDI:: NC_000004.12:73069336:G:A
Gene:: COX18 (Varview), LOC112268467 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,stop_gained,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73069337G>A, NC_000004.11:g.73935054G>A, XM_005265680.6:c.313C>T, XM_005265680.5:c.313C>T, XM_005265680.4:c.313C>T, XM_005265680.3:c.313C>T, XM_005265680.2:c.313C>T, XM_005265680.1:c.313C>T, NM_173827.4:c.313C>T, NM_173827.3:c.313C>T, NM_173827.2:c.313C>T, XM_017008045.3:c.313C>T, XM_017008045.2:c.313C>T, XM_017008045.1:c.313C>T, NM_001297733.2:c.-145C>T, NM_001297733.1:c.-145C>T, NM_001297732.2:c.313C>T, NM_001297732.1:c.313C>T, NM_001300729.1:c.423C>T, NM_001033760.1:c.313C>T, XP_005265737.1:p.Gln105Ter, NP_776188.1:p.Gln105Ter, XP_016863534.1:p.Gln105Ter, NP_001284661.1:p.Gln105Ter

Select item 14838612493.

rs1483861249 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAA>- [Show Flanks]
Chromosome:: 4:73064790 (GRCh38)
4:73930507 (GRCh37)
Canonical SPDI:: NC_000004.12:73064787:AACAA:AA
Gene:: COX18 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73064790_73064792del, NC_000004.11:g.73930507_73930509del, XM_005265680.6:c.711_713del, XM_005265680.5:c.711_713del, XM_005265680.4:c.711_713del, XM_005265680.3:c.711_713del, XM_005265680.2:c.711_713del, XM_005265680.1:c.711_713del, NM_173827.4:c.708_710del, NM_173827.3:c.708_710del, NM_173827.2:c.708_710del, XM_017008045.3:c.708_710del, XM_017008045.2:c.708_710del, XM_017008045.1:c.708_710del, NM_001297733.2:c.255_257del, NM_001297733.1:c.255_257del, NM_001297732.2:c.711_713del, NM_001297732.1:c.711_713del, NM_001300729.1:c.717_719del, NM_001033760.1:c.708_710del, XP_005265737.1:p.Leu238del, NP_776188.1:p.Leu237del, XP_016863534.1:p.Leu237del, NP_001284662.1:p.Leu86del, NP_001284661.1:p.Leu238del, NP_001287658.1:p.Leu240del

Select item 14743914834.

rs1474391483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:73065289 (GRCh38)
4:73931006 (GRCh37)
Canonical SPDI:: NC_000004.12:73065288:C:T
Gene:: COX18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73065289C>T, NC_000004.11:g.73931006C>T, XM_005265680.6:c.559G>A, XM_005265680.5:c.559G>A, XM_005265680.4:c.559G>A, XM_005265680.3:c.559G>A, XM_005265680.2:c.559G>A, XM_005265680.1:c.559G>A, NM_173827.4:c.559G>A, NM_173827.3:c.559G>A, NM_173827.2:c.559G>A, XM_017008045.3:c.559G>A, XM_017008045.2:c.559G>A, XM_017008045.1:c.559G>A, NM_001297733.2:c.106G>A, NM_001297733.1:c.106G>A, NM_001297732.2:c.559G>A, NM_001297732.1:c.559G>A, NM_001300729.1:c.568G>A, NM_001033760.1:c.559G>A, XP_005265737.1:p.Ala187Thr, NP_776188.1:p.Ala187Thr, XP_016863534.1:p.Ala187Thr, NP_001284662.1:p.Ala36Thr, NP_001284661.1:p.Ala187Thr, NP_001287658.1:p.Ala190Thr

Select item 14737460285.

rs1473746028 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:73058212 (GRCh38)
4:73923929 (GRCh37)
Canonical SPDI:: NC_000004.12:73058211:G:A
Gene:: COX18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73058212G>A, NC_000004.11:g.73923929G>A, XM_005265680.6:c.911C>T, XM_005265680.5:c.911C>T, XM_005265680.4:c.911C>T, XM_005265680.3:c.911C>T, XM_005265680.2:c.911C>T, XM_005265680.1:c.911C>T, NM_173827.4:c.904C>T, NM_173827.3:c.904C>T, NM_173827.2:c.904C>T, XM_017008045.3:c.908C>T, XM_017008045.2:c.908C>T, XM_017008045.1:c.908C>T, NM_001297733.2:c.451C>T, NM_001297733.1:c.451C>T, NM_001297732.2:c.907C>T, NM_001297732.1:c.907C>T, NM_001300729.1:c.913C>T, NM_001033760.1:c.904C>T, XP_005265737.1:p.Ser304Leu, NP_776188.1:p.Arg302Cys, XP_016863534.1:p.Ser303Leu, NP_001284662.1:p.Arg151Cys, NP_001284661.1:p.Arg303Cys, NP_001287658.1:p.Arg305Cys

Select item 14706810346.

rs1470681034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:73069578 (GRCh38)
4:73935295 (GRCh37)
Canonical SPDI:: NC_000004.12:73069577:C:A
Gene:: COX18 (Varview), LOC112268467 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.73069578C>A, NC_000004.11:g.73935295C>A, XM_005265680.6:c.72G>T, XM_005265680.5:c.72G>T, XM_005265680.4:c.72G>T, XM_005265680.3:c.72G>T, XM_005265680.2:c.72G>T, XM_005265680.1:c.72G>T, NM_173827.4:c.72G>T, NM_173827.3:c.72G>T, NM_173827.2:c.72G>T, XM_017008045.3:c.72G>T, XM_017008045.2:c.72G>T, XM_017008045.1:c.72G>T, NM_001297733.2:c.-386G>T, NM_001297733.1:c.-386G>T, NM_001297732.2:c.72G>T, NM_001297732.1:c.72G>T, NM_001300729.1:c.182G>T, NM_001033760.1:c.72G>T, NP_001287658.1:p.Arg61Leu

Select item 14677554717.

rs1467755471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:73058115 (GRCh38)
4:73923832 (GRCh37)
Canonical SPDI:: NC_000004.12:73058114:C:A
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant,stop_lost,terminator_codon_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73058115C>A, NC_000004.11:g.73923832C>A, XM_005265680.6:c.*45G>T, XM_005265680.5:c.*45G>T, XM_005265680.4:c.*45G>T, XM_005265680.3:c.*45G>T, XM_005265680.2:c.*45G>T, XM_005265680.1:c.*45G>T, NM_173827.4:c.1001G>T, NM_173827.3:c.1001G>T, NM_173827.2:c.1001G>T, XM_017008045.3:c.*45G>T, XM_017008045.2:c.*45G>T, XM_017008045.1:c.*45G>T, NM_001297733.2:c.548G>T, NM_001297733.1:c.548G>T, NM_001297732.2:c.1004G>T, NM_001297732.1:c.1004G>T, NM_001300729.1:c.1010G>T, NM_001033760.1:c.1001G>T, NP_776188.1:p.Ter334Leu, NP_001284662.1:p.Ter183Leu, NP_001284661.1:p.Ter335Leu, NP_001287658.1:p.Ter337Leu

Select item 14673878498.

rs1467387849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:73068091 (GRCh38)
4:73933808 (GRCh37)
Canonical SPDI:: NC_000004.12:73068090:C:G
Gene:: COX18 (Varview), LOC112268467 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.73068091C>G, NC_000004.11:g.73933808C>G, XM_005265680.6:c.372G>C, XM_005265680.5:c.372G>C, XM_005265680.4:c.372G>C, XM_005265680.3:c.372G>C, XM_005265680.2:c.372G>C, XM_005265680.1:c.372G>C, NM_173827.4:c.372G>C, NM_173827.3:c.372G>C, NM_173827.2:c.372G>C, XM_017008045.3:c.372G>C, XM_017008045.2:c.372G>C, XM_017008045.1:c.372G>C, NM_001297733.2:c.-82G>C, NM_001297733.1:c.-82G>C, NM_001297732.2:c.372G>C, NM_001297732.1:c.372G>C, NM_001033760.1:c.372G>C, XP_005265737.1:p.Arg124Ser, NP_776188.1:p.Arg124Ser, XP_016863534.1:p.Arg124Ser, NP_001284661.1:p.Arg124Ser

Select item 14632805259.

rs1463280525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:73069465 (GRCh38)
4:73935182 (GRCh37)
Canonical SPDI:: NC_000004.12:73069464:G:T
Gene:: COX18 (Varview), LOC112268467 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,stop_gained,5_prime_UTR_variant
HGVS:: NC_000004.12:g.73069465G>T, NC_000004.11:g.73935182G>T, XM_005265680.6:c.185C>A, XM_005265680.5:c.185C>A, XM_005265680.4:c.185C>A, XM_005265680.3:c.185C>A, XM_005265680.2:c.185C>A, XM_005265680.1:c.185C>A, NM_173827.4:c.185C>A, NM_173827.3:c.185C>A, NM_173827.2:c.185C>A, XM_017008045.3:c.185C>A, XM_017008045.2:c.185C>A, XM_017008045.1:c.185C>A, NM_001297733.2:c.-273C>A, NM_001297733.1:c.-273C>A, NM_001297732.2:c.185C>A, NM_001297732.1:c.185C>A, NM_001300729.1:c.295C>A, NM_001033760.1:c.185C>A, XP_005265737.1:p.Ser62Ter, NP_776188.1:p.Ser62Ter, XP_016863534.1:p.Ser62Ter, NP_001284661.1:p.Ser62Ter, NP_001287658.1:p.Arg99Ser

Select item 145959749910.

rs1459597499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:73061894 (GRCh38)
4:73927611 (GRCh37)
Canonical SPDI:: NC_000004.12:73061893:C:T
Gene:: COX18 (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)
HGVS:: NC_000004.12:g.73061894C>T, NC_000004.11:g.73927611C>T, XM_005265680.6:c.750G>A, XM_005265680.5:c.750G>A, XM_005265680.4:c.750G>A, XM_005265680.3:c.750G>A, XM_005265680.2:c.750G>A, XM_005265680.1:c.750G>A, NM_173827.4:c.747G>A, NM_173827.3:c.747G>A, NM_173827.2:c.747G>A, XM_017008045.3:c.747G>A, XM_017008045.2:c.747G>A, XM_017008045.1:c.747G>A, NM_001297733.2:c.294G>A, NM_001297733.1:c.294G>A, NM_001297732.2:c.750G>A, NM_001297732.1:c.750G>A, NM_001300729.1:c.756G>A, NM_001033760.1:c.747G>A, XP_005265737.1:p.Met250Ile, NP_776188.1:p.Met249Ile, XP_016863534.1:p.Met249Ile, NP_001284662.1:p.Met98Ile, NP_001284661.1:p.Met250Ile, NP_001287658.1:p.Met252Ile

Select item 145514221411.

rs1455142214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:73069631 (GRCh38)
4:73935348 (GRCh37)
Canonical SPDI:: NC_000004.12:73069630:C:T
Gene:: COX18 (Varview), LOC112268467 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000169/1 (ALFA)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73069631C>T, NC_000004.11:g.73935348C>T, XM_005265680.6:c.19G>A, XM_005265680.5:c.19G>A, XM_005265680.4:c.19G>A, XM_005265680.3:c.19G>A, XM_005265680.2:c.19G>A, XM_005265680.1:c.19G>A, NM_173827.4:c.19G>A, NM_173827.3:c.19G>A, NM_173827.2:c.19G>A, XM_017008045.3:c.19G>A, XM_017008045.2:c.19G>A, XM_017008045.1:c.19G>A, NM_001297733.2:c.-439G>A, NM_001297733.1:c.-439G>A, NM_001297732.2:c.19G>A, NM_001297732.1:c.19G>A, NM_001300729.1:c.129G>A, NM_001033760.1:c.19G>A, XP_005265737.1:p.Gly7Ser, NP_776188.1:p.Gly7Ser, XP_016863534.1:p.Gly7Ser, NP_001284661.1:p.Gly7Ser

Select item 145349319512.

rs1453493195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:73069378 (GRCh38)
4:73935095 (GRCh37)
Canonical SPDI:: NC_000004.12:73069377:A:G
Gene:: COX18 (Varview), LOC112268467 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_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_000004.12:g.73069378A>G, NC_000004.11:g.73935095A>G, XM_005265680.6:c.272T>C, XM_005265680.5:c.272T>C, XM_005265680.4:c.272T>C, XM_005265680.3:c.272T>C, XM_005265680.2:c.272T>C, XM_005265680.1:c.272T>C, NM_173827.4:c.272T>C, NM_173827.3:c.272T>C, NM_173827.2:c.272T>C, XM_017008045.3:c.272T>C, XM_017008045.2:c.272T>C, XM_017008045.1:c.272T>C, NM_001297733.2:c.-186T>C, NM_001297733.1:c.-186T>C, NM_001297732.2:c.272T>C, NM_001297732.1:c.272T>C, NM_001300729.1:c.382T>C, NM_001033760.1:c.272T>C, XP_005265737.1:p.Val91Ala, NP_776188.1:p.Val91Ala, XP_016863534.1:p.Val91Ala, NP_001284661.1:p.Val91Ala, NP_001287658.1:p.Trp128Arg

Select item 145079113513.

rs1450791135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:73061911 (GRCh38)
4:73927628 (GRCh37)
Canonical SPDI:: NC_000004.12:73061910:G:C
Gene:: COX18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.73061911G>C, NC_000004.11:g.73927628G>C, XM_005265680.6:c.733C>G, XM_005265680.5:c.733C>G, XM_005265680.4:c.733C>G, XM_005265680.3:c.733C>G, XM_005265680.2:c.733C>G, XM_005265680.1:c.733C>G, NM_173827.4:c.730C>G, NM_173827.3:c.730C>G, NM_173827.2:c.730C>G, XM_017008045.3:c.730C>G, XM_017008045.2:c.730C>G, XM_017008045.1:c.730C>G, NM_001297733.2:c.277C>G, NM_001297733.1:c.277C>G, NM_001297732.2:c.733C>G, NM_001297732.1:c.733C>G, NM_001300729.1:c.739C>G, NM_001033760.1:c.730C>G, XP_005265737.1:p.Leu245Val, NP_776188.1:p.Leu244Val, XP_016863534.1:p.Leu244Val, NP_001284662.1:p.Leu93Val, NP_001284661.1:p.Leu245Val, NP_001287658.1:p.Leu247Val

Select item 144757684414.

rs1447576844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:73058128 (GRCh38)
4:73923845 (GRCh37)
Canonical SPDI:: NC_000004.12:73058127:T:C
Gene:: COX18 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73058128T>C, NC_000004.11:g.73923845T>C, XM_005265680.6:c.*32A>G, XM_005265680.5:c.*32A>G, XM_005265680.4:c.*32A>G, XM_005265680.3:c.*32A>G, XM_005265680.2:c.*32A>G, XM_005265680.1:c.*32A>G, NM_173827.4:c.988A>G, NM_173827.3:c.988A>G, NM_173827.2:c.988A>G, XM_017008045.3:c.*32A>G, XM_017008045.2:c.*32A>G, XM_017008045.1:c.*32A>G, NM_001297733.2:c.535A>G, NM_001297733.1:c.535A>G, NM_001297732.2:c.991A>G, NM_001297732.1:c.991A>G, NM_001300729.1:c.997A>G, NM_001033760.1:c.988A>G, NP_776188.1:p.Ile330Val, NP_001284662.1:p.Ile179Val, NP_001284661.1:p.Ile331Val, NP_001287658.1:p.Ile333Val

Select item 144653656915.

rs1446536569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:73058267 (GRCh38)
4:73923984 (GRCh37)
Canonical SPDI:: NC_000004.12:73058266:T:C
Gene:: COX18 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73058267T>C, NC_000004.11:g.73923984T>C, XM_005265680.6:c.856A>G, XM_005265680.5:c.856A>G, XM_005265680.4:c.856A>G, XM_005265680.3:c.856A>G, XM_005265680.2:c.856A>G, XM_005265680.1:c.856A>G, NM_173827.4:c.849A>G, NM_173827.3:c.849A>G, NM_173827.2:c.849A>G, XM_017008045.3:c.853A>G, XM_017008045.2:c.853A>G, XM_017008045.1:c.853A>G, NM_001297733.2:c.396A>G, NM_001297733.1:c.396A>G, NM_001297732.2:c.852A>G, NM_001297732.1:c.852A>G, NM_001300729.1:c.858A>G, NM_001033760.1:c.849A>G, XP_005265737.1:p.Met286Val, XP_016863534.1:p.Met285Val

Select item 144581734816.

rs1445817348 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:73069643 (GRCh38)
4:73935360 (GRCh37)
Canonical SPDI:: NC_000004.12:73069642:A:G,NC_000004.12:73069642:A:T
Gene:: COX18 (Varview), LOC112268467 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.73069643A>G, NC_000004.12:g.73069643A>T, NC_000004.11:g.73935360A>G, NC_000004.11:g.73935360A>T, XM_005265680.6:c.7T>C, XM_005265680.6:c.7T>A, XM_005265680.5:c.7T>C, XM_005265680.5:c.7T>A, XM_005265680.4:c.7T>C, XM_005265680.4:c.7T>A, XM_005265680.3:c.7T>C, XM_005265680.3:c.7T>A, XM_005265680.2:c.7T>C, XM_005265680.2:c.7T>A, XM_005265680.1:c.7T>C, XM_005265680.1:c.7T>A, NM_173827.4:c.7T>C, NM_173827.4:c.7T>A, NM_173827.3:c.7T>C, NM_173827.3:c.7T>A, NM_173827.2:c.7T>C, NM_173827.2:c.7T>A, XM_017008045.3:c.7T>C, XM_017008045.3:c.7T>A, XM_017008045.2:c.7T>C, XM_017008045.2:c.7T>A, XM_017008045.1:c.7T>C, XM_017008045.1:c.7T>A, NM_001297733.2:c.-451T>C, NM_001297733.2:c.-451T>A, NM_001297733.1:c.-451T>C, NM_001297733.1:c.-451T>A, NM_001297732.2:c.7T>C, NM_001297732.2:c.7T>A, NM_001297732.1:c.7T>C, NM_001297732.1:c.7T>A, NM_001300729.1:c.117T>C, NM_001300729.1:c.117T>A, NM_001033760.1:c.7T>C, NM_001033760.1:c.7T>A, XP_005265737.1:p.Cys3Arg, XP_005265737.1:p.Cys3Ser, NP_776188.1:p.Cys3Arg, NP_776188.1:p.Cys3Ser, XP_016863534.1:p.Cys3Arg, XP_016863534.1:p.Cys3Ser, NP_001284661.1:p.Cys3Arg, NP_001284661.1:p.Cys3Ser, NP_001287658.1:p.Cys39Ter

Select item 144563908417.

rs1445639084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:73069474 (GRCh38)
4:73935191 (GRCh37)
Canonical SPDI:: NC_000004.12:73069473:G:T
Gene:: COX18 (Varview), LOC112268467 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
T=0.001/3 (KOREAN)
HGVS:: NC_000004.12:g.73069474G>T, NC_000004.11:g.73935191G>T, XM_005265680.6:c.176C>A, XM_005265680.5:c.176C>A, XM_005265680.4:c.176C>A, XM_005265680.3:c.176C>A, XM_005265680.2:c.176C>A, XM_005265680.1:c.176C>A, NM_173827.4:c.176C>A, NM_173827.3:c.176C>A, NM_173827.2:c.176C>A, XM_017008045.3:c.176C>A, XM_017008045.2:c.176C>A, XM_017008045.1:c.176C>A, NM_001297733.2:c.-282C>A, NM_001297733.1:c.-282C>A, NM_001297732.2:c.176C>A, NM_001297732.1:c.176C>A, NM_001300729.1:c.286C>A, NM_001033760.1:c.176C>A, XP_005265737.1:p.Ala59Asp, NP_776188.1:p.Ala59Asp, XP_016863534.1:p.Ala59Asp, NP_001284661.1:p.Ala59Asp, NP_001287658.1:p.Pro96Thr

Select item 144359721018.

rs1443597210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 4:73069430 (GRCh38)
4:73935147 (GRCh37)
Canonical SPDI:: NC_000004.12:73069429:C:A,NC_000004.12:73069429:C:G,NC_000004.12:73069429:C:T
Gene:: COX18 (Varview), LOC112268467 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.73069430C>A, NC_000004.12:g.73069430C>G, NC_000004.12:g.73069430C>T, NC_000004.11:g.73935147C>A, NC_000004.11:g.73935147C>G, NC_000004.11:g.73935147C>T, XM_005265680.6:c.220G>T, XM_005265680.6:c.220G>C, XM_005265680.6:c.220G>A, XM_005265680.5:c.220G>T, XM_005265680.5:c.220G>C, XM_005265680.5:c.220G>A, XM_005265680.4:c.220G>T, XM_005265680.4:c.220G>C, XM_005265680.4:c.220G>A, XM_005265680.3:c.220G>T, XM_005265680.3:c.220G>C, XM_005265680.3:c.220G>A, XM_005265680.2:c.220G>T, XM_005265680.2:c.220G>C, XM_005265680.2:c.220G>A, XM_005265680.1:c.220G>T, XM_005265680.1:c.220G>C, XM_005265680.1:c.220G>A, NM_173827.4:c.220G>T, NM_173827.4:c.220G>C, NM_173827.4:c.220G>A, NM_173827.3:c.220G>T, NM_173827.3:c.220G>C, NM_173827.3:c.220G>A, NM_173827.2:c.220G>T, NM_173827.2:c.220G>C, NM_173827.2:c.220G>A, XM_017008045.3:c.220G>T, XM_017008045.3:c.220G>C, XM_017008045.3:c.220G>A, XM_017008045.2:c.220G>T, XM_017008045.2:c.220G>C, XM_017008045.2:c.220G>A, XM_017008045.1:c.220G>T, XM_017008045.1:c.220G>C, XM_017008045.1:c.220G>A, NM_001297733.2:c.-238G>T, NM_001297733.2:c.-238G>C, NM_001297733.2:c.-238G>A, NM_001297733.1:c.-238G>T, NM_001297733.1:c.-238G>C, NM_001297733.1:c.-238G>A, NM_001297732.2:c.220G>T, NM_001297732.2:c.220G>C, NM_001297732.2:c.220G>A, NM_001297732.1:c.220G>T, NM_001297732.1:c.220G>C, NM_001297732.1:c.220G>A, NM_001300729.1:c.330G>T, NM_001300729.1:c.330G>C, NM_001300729.1:c.330G>A, NM_001033760.1:c.220G>T, NM_001033760.1:c.220G>C, NM_001033760.1:c.220G>A, XP_005265737.1:p.Val74Leu, XP_005265737.1:p.Val74Leu, XP_005265737.1:p.Val74Met, NP_776188.1:p.Val74Leu, NP_776188.1:p.Val74Leu, NP_776188.1:p.Val74Met, XP_016863534.1:p.Val74Leu, XP_016863534.1:p.Val74Leu, XP_016863534.1:p.Val74Met, NP_001284661.1:p.Val74Leu, NP_001284661.1:p.Val74Leu, NP_001284661.1:p.Val74Met

Select item 144256949519.

rs1442569495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:73065410 (GRCh38)
4:73931127 (GRCh37)
Canonical SPDI:: NC_000004.12:73065409:G:A
Gene:: COX18 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.73065410G>A, NC_000004.11:g.73931127G>A, XM_005265680.6:c.438C>T, XM_005265680.5:c.438C>T, XM_005265680.4:c.438C>T, XM_005265680.3:c.438C>T, XM_005265680.2:c.438C>T, XM_005265680.1:c.438C>T, NM_173827.4:c.438C>T, NM_173827.3:c.438C>T, NM_173827.2:c.438C>T, XM_017008045.3:c.438C>T, XM_017008045.2:c.438C>T, XM_017008045.1:c.438C>T, NM_001297733.2:c.-16C>T, NM_001297733.1:c.-16C>T, NM_001297732.2:c.438C>T, NM_001297732.1:c.438C>T, NM_001300729.1:c.447C>T, NM_001033760.1:c.438C>T

Select item 144117772820.

rs1441177728 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:73058222 (GRCh38)
4:73923940 (GRCh37)
Canonical SPDI:: NC_000004.12:73058222:G:GG
Gene:: COX18 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.73058223dup, NC_000004.11:g.73923940dup, XM_005265680.6:c.900dup, XM_005265680.5:c.900dup, XM_005265680.4:c.900dup, XM_005265680.3:c.900dup, XM_005265680.2:c.900dup, XM_005265680.1:c.900dup, NM_173827.4:c.893dup, NM_173827.3:c.893dup, NM_173827.2:c.893dup, XM_017008045.3:c.897dup, XM_017008045.2:c.897dup, XM_017008045.1:c.897dup, NM_001297733.2:c.440dup, NM_001297733.1:c.440dup, NM_001297732.2:c.896dup, NM_001297732.1:c.896dup, NM_001300729.1:c.902dup, NM_001033760.1:c.893dup, XP_005265737.1:p.Ser301fs, NP_776188.1:p.Pro299fs, XP_016863534.1:p.Ser300fs, NP_001284662.1:p.Pro148fs, NP_001284661.1:p.Pro300fs, NP_001287658.1:p.Pro302fs

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Result Filters

Clinical Significance

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Items: 1 to 20 of 384

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