SNP Links for Nucleotide (Select 663082453) - SNP

Links from Nucleotide

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Select item 14908423021.

rs1490842302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:73054761 (GRCh38)
4:73920478 (GRCh37)
Canonical SPDI:: NC_000004.12:73054760:A:G
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.73054761A>G, NC_000004.11:g.73920478A>G, XM_005265680.6:c.*3399T>C, NM_173827.4:c.*3353T>C, NM_173827.3:c.*3353T>C, NM_173827.2:c.*3353T>C, XM_017008045.3:c.*3399T>C, NM_001297733.2:c.*3353T>C, NM_001297733.1:c.*3353T>C, NM_001297732.2:c.*3353T>C, NM_001297732.1:c.*3353T>C, NM_001300729.1:c.*3353T>C, NM_001033760.1:c.*2239T>C

Select item 14900239662.

rs1490023966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:73055928 (GRCh38)
4:73921645 (GRCh37)
Canonical SPDI:: NC_000004.12:73055927:T:G
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.73055928T>G, NC_000004.11:g.73921645T>G, XM_005265680.6:c.*2232A>C, NM_173827.4:c.*2186A>C, NM_173827.3:c.*2186A>C, NM_173827.2:c.*2186A>C, XM_017008045.3:c.*2232A>C, NM_001297733.2:c.*2186A>C, NM_001297733.1:c.*2186A>C, NM_001297732.2:c.*2186A>C, NM_001297732.1:c.*2186A>C, NM_001300729.1:c.*2186A>C, NM_001033760.1:c.*1072A>C

Select item 14898860433.

rs1489886043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:73056902 (GRCh38)
4:73922619 (GRCh37)
Canonical SPDI:: NC_000004.12:73056901:C:G
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000004.12:g.73056902C>G, NC_000004.11:g.73922619C>G, XM_005265680.6:c.*1258G>C, XM_005265680.4:c.*1258G>C, XM_005265680.1:c.*1258G>C, NM_173827.4:c.*1212G>C, NM_173827.3:c.*1212G>C, NM_173827.2:c.*1212G>C, XM_017008045.3:c.*1258G>C, XM_017008045.1:c.*1258G>C, NM_001297733.2:c.*1212G>C, NM_001297733.1:c.*1212G>C, NM_001297732.2:c.*1212G>C, NM_001297732.1:c.*1212G>C, NM_001300729.1:c.*1212G>C

Select item 14883519344.

rs1488351934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:73057903 (GRCh38)
4:73923620 (GRCh37)
Canonical SPDI:: NC_000004.12:73057902:C:T
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.73057903C>T, NC_000004.11:g.73923620C>T, XM_005265680.6:c.*257G>A, XM_005265680.5:c.*257G>A, XM_005265680.4:c.*257G>A, XM_005265680.3:c.*257G>A, XM_005265680.2:c.*257G>A, XM_005265680.1:c.*257G>A, NM_173827.4:c.*211G>A, NM_173827.3:c.*211G>A, NM_173827.2:c.*211G>A, XM_017008045.3:c.*257G>A, XM_017008045.2:c.*257G>A, XM_017008045.1:c.*257G>A, NM_001297733.2:c.*211G>A, NM_001297733.1:c.*211G>A, NM_001297732.2:c.*211G>A, NM_001297732.1:c.*211G>A, NM_001300729.1:c.*211G>A

Select item 14881288145.

rs1488128814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:73057173 (GRCh38)
4:73922890 (GRCh37)
Canonical SPDI:: NC_000004.12:73057172:T:C
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.73057173T>C, NC_000004.11:g.73922890T>C, XM_005265680.6:c.*987A>G, XM_005265680.4:c.*987A>G, XM_005265680.1:c.*987A>G, NM_173827.4:c.*941A>G, NM_173827.3:c.*941A>G, NM_173827.2:c.*941A>G, XM_017008045.3:c.*987A>G, XM_017008045.1:c.*987A>G, NM_001297733.2:c.*941A>G, NM_001297733.1:c.*941A>G, NM_001297732.2:c.*941A>G, NM_001297732.1:c.*941A>G, NM_001300729.1:c.*941A>G

Select item 14875372806.

rs1487537280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:73056815 (GRCh38)
4:73922532 (GRCh37)
Canonical SPDI:: NC_000004.12:73056814:C:A,NC_000004.12:73056814:C:T
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.73056815C>A, NC_000004.12:g.73056815C>T, NC_000004.11:g.73922532C>A, NC_000004.11:g.73922532C>T, XM_005265680.6:c.*1345G>T, XM_005265680.6:c.*1345G>A, XM_005265680.4:c.*1345G>T, XM_005265680.4:c.*1345G>A, XM_005265680.1:c.*1345G>T, XM_005265680.1:c.*1345G>A, NM_173827.4:c.*1299G>T, NM_173827.4:c.*1299G>A, NM_173827.3:c.*1299G>T, NM_173827.3:c.*1299G>A, NM_173827.2:c.*1299G>T, NM_173827.2:c.*1299G>A, XM_017008045.3:c.*1345G>T, XM_017008045.3:c.*1345G>A, XM_017008045.1:c.*1345G>T, XM_017008045.1:c.*1345G>A, NM_001297733.2:c.*1299G>T, NM_001297733.2:c.*1299G>A, NM_001297733.1:c.*1299G>T, NM_001297733.1:c.*1299G>A, NM_001297732.2:c.*1299G>T, NM_001297732.2:c.*1299G>A, NM_001297732.1:c.*1299G>T, NM_001297732.1:c.*1299G>A, NM_001300729.1:c.*1299G>T, NM_001300729.1:c.*1299G>A, NM_001033760.1:c.*185G>T, NM_001033760.1:c.*185G>A

Select item 14871142597.

rs1487114259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:73056915 (GRCh38)
4:73922632 (GRCh37)
Canonical SPDI:: NC_000004.12:73056914:G:C
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.73056915G>C, NC_000004.11:g.73922632G>C, XM_005265680.6:c.*1245C>G, XM_005265680.4:c.*1245C>G, XM_005265680.1:c.*1245C>G, NM_173827.4:c.*1199C>G, NM_173827.3:c.*1199C>G, NM_173827.2:c.*1199C>G, XM_017008045.3:c.*1245C>G, XM_017008045.1:c.*1245C>G, NM_001297733.2:c.*1199C>G, NM_001297733.1:c.*1199C>G, NM_001297732.2:c.*1199C>G, NM_001297732.1:c.*1199C>G, NM_001300729.1:c.*1199C>G

Select item 14865850718.

rs1486585071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:73055425 (GRCh38)
4:73921142 (GRCh37)
Canonical SPDI:: NC_000004.12:73055424:A:G
Gene:: COX18 (Varview)
Functional Consequence:: 3_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.73055425A>G, NC_000004.11:g.73921142A>G, XM_005265680.6:c.*2735T>C, NM_173827.4:c.*2689T>C, NM_173827.3:c.*2689T>C, NM_173827.2:c.*2689T>C, XM_017008045.3:c.*2735T>C, NM_001297733.2:c.*2689T>C, NM_001297733.1:c.*2689T>C, NM_001297732.2:c.*2689T>C, NM_001297732.1:c.*2689T>C, NM_001300729.1:c.*2689T>C, NM_001033760.1:c.*1575T>C

Select item 14861969589.

rs1486196958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:73056936 (GRCh38)
4:73922653 (GRCh37)
Canonical SPDI:: NC_000004.12:73056935:C:A
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.73056936C>A, NC_000004.11:g.73922653C>A, XM_005265680.6:c.*1224G>T, XM_005265680.4:c.*1224G>T, XM_005265680.1:c.*1224G>T, NM_173827.4:c.*1178G>T, NM_173827.3:c.*1178G>T, NM_173827.2:c.*1178G>T, XM_017008045.3:c.*1224G>T, XM_017008045.1:c.*1224G>T, NM_001297733.2:c.*1178G>T, NM_001297733.1:c.*1178G>T, NM_001297732.2:c.*1178G>T, NM_001297732.1:c.*1178G>T, NM_001300729.1:c.*1178G>T

Select item 148560485210.

rs1485604852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:73054968 (GRCh38)
4:73920685 (GRCh37)
Canonical SPDI:: NC_000004.12:73054967:A:C
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.73054968A>C, NC_000004.11:g.73920685A>C, XM_005265680.6:c.*3192T>G, NM_173827.4:c.*3146T>G, NM_173827.3:c.*3146T>G, NM_173827.2:c.*3146T>G, XM_017008045.3:c.*3192T>G, NM_001297733.2:c.*3146T>G, NM_001297733.1:c.*3146T>G, NM_001297732.2:c.*3146T>G, NM_001297732.1:c.*3146T>G, NM_001300729.1:c.*3146T>G, NM_001033760.1:c.*2032T>G

Select item 148491098411.

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 148446779812.

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 148417854113.

rs1484178541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:73057874 (GRCh38)
4:73923591 (GRCh37)
Canonical SPDI:: NC_000004.12:73057873:G:A,NC_000004.12:73057873:G:C
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.00007/1 (ALFA)
A=0.00022/1 (Estonian)
HGVS:: NC_000004.12:g.73057874G>A, NC_000004.12:g.73057874G>C, NC_000004.11:g.73923591G>A, NC_000004.11:g.73923591G>C, XM_005265680.6:c.*286C>T, XM_005265680.6:c.*286C>G, XM_005265680.4:c.*286C>T, XM_005265680.4:c.*286C>G, XM_005265680.3:c.*286C>T, XM_005265680.3:c.*286C>G, XM_005265680.2:c.*286C>T, XM_005265680.2:c.*286C>G, XM_005265680.1:c.*286C>T, XM_005265680.1:c.*286C>G, NM_173827.4:c.*240C>T, NM_173827.4:c.*240C>G, NM_173827.3:c.*240C>T, NM_173827.3:c.*240C>G, NM_173827.2:c.*240C>T, NM_173827.2:c.*240C>G, XM_017008045.3:c.*286C>T, XM_017008045.3:c.*286C>G, XM_017008045.2:c.*286C>T, XM_017008045.2:c.*286C>G, XM_017008045.1:c.*286C>T, XM_017008045.1:c.*286C>G, NM_001297733.2:c.*240C>T, NM_001297733.2:c.*240C>G, NM_001297733.1:c.*240C>T, NM_001297733.1:c.*240C>G, NM_001297732.2:c.*240C>T, NM_001297732.2:c.*240C>G, NM_001297732.1:c.*240C>T, NM_001297732.1:c.*240C>G, NM_001300729.1:c.*240C>T, NM_001300729.1:c.*240C>G

Select item 148412779114.

rs1484127791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:73055299 (GRCh38)
4:73921016 (GRCh37)
Canonical SPDI:: NC_000004.12:73055298:A:T
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.73055299A>T, NC_000004.11:g.73921016A>T, XM_005265680.6:c.*2861T>A, NM_173827.4:c.*2815T>A, NM_173827.3:c.*2815T>A, NM_173827.2:c.*2815T>A, XM_017008045.3:c.*2861T>A, NM_001297733.2:c.*2815T>A, NM_001297733.1:c.*2815T>A, NM_001297732.2:c.*2815T>A, NM_001297732.1:c.*2815T>A, NM_001300729.1:c.*2815T>A, NM_001033760.1:c.*1701T>A

Select item 148386124915.

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 148360724116.

rs1483607241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:73054853 (GRCh38)
4:73920570 (GRCh37)
Canonical SPDI:: NC_000004.12:73054852:C:A
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.73054853C>A, NC_000004.11:g.73920570C>A, XM_005265680.6:c.*3307G>T, NM_173827.4:c.*3261G>T, NM_173827.3:c.*3261G>T, NM_173827.2:c.*3261G>T, XM_017008045.3:c.*3307G>T, NM_001297733.2:c.*3261G>T, NM_001297733.1:c.*3261G>T, NM_001297732.2:c.*3261G>T, NM_001297732.1:c.*3261G>T, NM_001300729.1:c.*3261G>T, NM_001033760.1:c.*2147G>T

Select item 148315130717.

rs1483151307 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:73057046 (GRCh38)
4:73922763 (GRCh37)
Canonical SPDI:: NC_000004.12:73057045:GGG:GG
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000045/12 (TOPMED)
HGVS:: NC_000004.12:g.73057048del, NC_000004.11:g.73922765del, XM_005265680.6:c.*1114del, XM_005265680.4:c.*1114del, XM_005265680.1:c.*1114del, NM_173827.4:c.*1068del, NM_173827.3:c.*1068del, NM_173827.2:c.*1068del, XM_017008045.3:c.*1114del, XM_017008045.1:c.*1114del, NM_001297733.2:c.*1068del, NM_001297733.1:c.*1068del, NM_001297732.2:c.*1068del, NM_001297732.1:c.*1068del, NM_001300729.1:c.*1068del

Select item 147916358118.

rs1479163581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:73056930 (GRCh38)
4:73922647 (GRCh37)
Canonical SPDI:: NC_000004.12:73056929:A:G
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.73056930A>G, NC_000004.11:g.73922647A>G, XM_005265680.6:c.*1230T>C, XM_005265680.4:c.*1230T>C, XM_005265680.1:c.*1230T>C, NM_173827.4:c.*1184T>C, NM_173827.3:c.*1184T>C, NM_173827.2:c.*1184T>C, XM_017008045.3:c.*1230T>C, XM_017008045.1:c.*1230T>C, NM_001297733.2:c.*1184T>C, NM_001297733.1:c.*1184T>C, NM_001297732.2:c.*1184T>C, NM_001297732.1:c.*1184T>C, NM_001300729.1:c.*1184T>C

Select item 147883151419.

rs1478831514 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 4:73057029 (GRCh38)
4:73922746 (GRCh37)
Canonical SPDI:: NC_000004.12:73057026:AGGAG:AG
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.73057029_73057031del, NC_000004.11:g.73922746_73922748del, XM_005265680.6:c.*1131_*1133del, XM_005265680.4:c.*1131_*1133del, XM_005265680.1:c.*1131_*1133del, NM_173827.4:c.*1085_*1087del, NM_173827.3:c.*1085_*1087del, NM_173827.2:c.*1085_*1087del, XM_017008045.3:c.*1131_*1133del, XM_017008045.1:c.*1131_*1133del, NM_001297733.2:c.*1085_*1087del, NM_001297733.1:c.*1085_*1087del, NM_001297732.2:c.*1085_*1087del, NM_001297732.1:c.*1085_*1087del, NM_001300729.1:c.*1085_*1087del

Select item 147749382320.

rs1477493823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:73056521 (GRCh38)
4:73922238 (GRCh37)
Canonical SPDI:: NC_000004.12:73056520:A:G
Gene:: COX18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.73056521A>G, NC_000004.11:g.73922238A>G, XM_005265680.6:c.*1639T>C, XM_005265680.4:c.*1639T>C, XM_005265680.1:c.*1639T>C, NM_173827.4:c.*1593T>C, NM_173827.3:c.*1593T>C, NM_173827.2:c.*1593T>C, XM_017008045.3:c.*1639T>C, XM_017008045.1:c.*1639T>C, NM_001297733.2:c.*1593T>C, NM_001297733.1:c.*1593T>C, NM_001297732.2:c.*1593T>C, NM_001297732.1:c.*1593T>C, NM_001300729.1:c.*1593T>C, NM_001033760.1:c.*479T>C

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