SNP Links for Nucleotide (Select 1009287677) - SNP

Links from Nucleotide

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Select item 14898172731.

rs1489817273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:54964765 (GRCh38)
17:53042126 (GRCh37)
Canonical SPDI:: NC_000017.11:54964764:T:C
Gene:: COX11 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.54964765T>C, NC_000017.10:g.53042126T>C, NM_004375.5:c.454A>G, NM_004375.4:c.454A>G, NM_004375.3:c.454A>G, XM_011524342.4:c.454A>G, XM_011524342.3:c.454A>G, XM_011524342.2:c.454A>G, XM_011524342.1:c.454A>G, XM_017024192.3:c.454A>G, XM_017024192.2:c.454A>G, XM_017024192.1:c.454A>G, XM_017024196.3:c.454A>G, XM_017024196.2:c.454A>G, XM_017024196.1:c.454A>G, NR_027941.3:n.462A>G, NR_027941.2:n.593A>G, NR_027941.1:n.511A>G, NR_027942.3:n.462A>G, NR_027942.2:n.593A>G, NR_027942.1:n.511A>G, XM_024450584.2:c.454A>G, XM_024450584.1:c.454A>G, XM_024450583.2:c.454A>G, XM_024450583.1:c.454A>G, NR_135677.2:n.462A>G, NR_135677.1:n.593A>G, NM_001162861.2:c.454A>G, NM_001162861.1:c.454A>G, NM_001162862.2:c.454A>G, NM_001162862.1:c.454A>G, XM_047435372.1:c.454A>G, XM_047435370.1:c.454A>G, NM_001321518.1:c.454A>G, NP_004366.1:p.Ile152Val, XP_011522644.1:p.Ile152Val, XP_016879681.1:p.Ile152Val, XP_016879685.1:p.Ile152Val, XP_024306352.1:p.Ile152Val, XP_024306351.1:p.Ile152Val, NP_001156333.1:p.Ile152Val, NP_001156334.1:p.Ile152Val, XP_047291328.1:p.Ile152Val, XP_047291326.1:p.Ile152Val, NP_001308447.1:p.Ile152Val

Select item 14871786502.

rs1487178650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:54968754 (GRCh38)
17:53046115 (GRCh37)
Canonical SPDI:: NC_000017.11:54968753:C:A,NC_000017.11:54968753:C:T
Gene:: COX11 (Varview), STXBP4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.54968754C>A, NC_000017.11:g.54968754C>T, NC_000017.10:g.53046115C>A, NC_000017.10:g.53046115C>T, XM_011524342.4:c.-108G>T, XM_011524342.4:c.-108G>A, XM_011524342.2:c.-108G>T, XM_011524342.2:c.-108G>A, XM_011524342.1:c.-108G>T, XM_011524342.1:c.-108G>A, NM_004375.4:c.-108G>T, NM_004375.4:c.-108G>A, XM_017024192.3:c.-108G>T, XM_017024192.3:c.-108G>A, XM_017024192.1:c.-108G>T, XM_017024192.1:c.-108G>A, XM_017024196.3:c.-108G>T, XM_017024196.3:c.-108G>A, XM_017024196.1:c.-108G>T, XM_017024196.1:c.-108G>A, XM_024450584.2:c.-108G>T, XM_024450584.2:c.-108G>A, XM_024450583.2:c.-108G>T, XM_024450583.2:c.-108G>A, NR_027941.2:n.32G>T, NR_027941.2:n.32G>A, NR_027942.2:n.32G>T, NR_027942.2:n.32G>A, NM_001162861.2:c.-108G>T, NM_001162861.2:c.-108G>A, NM_001162862.2:c.-108G>T, NM_001162862.2:c.-108G>A, XM_047435372.1:c.-108G>T, XM_047435372.1:c.-108G>A, XM_047435370.1:c.-108G>T, XM_047435370.1:c.-108G>A, NR_135677.1:n.32G>T, NR_135677.1:n.32G>A, NM_001321518.1:c.-108G>T, NM_001321518.1:c.-108G>A

Select item 14842453413.

rs1484245341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:54963005 (GRCh38)
17:53040366 (GRCh37)
Canonical SPDI:: NC_000017.11:54963004:C:A,NC_000017.11:54963004:C:T
Gene:: COX11 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.54963005C>A, NC_000017.11:g.54963005C>T, NC_000017.10:g.53040366C>A, NC_000017.10:g.53040366C>T, NM_001321518.1:c.*256G>T, NM_001321518.1:c.*256G>A

Select item 14837307504.

rs1483730750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:54964776 (GRCh38)
17:53042137 (GRCh37)
Canonical SPDI:: NC_000017.11:54964775:C:G,NC_000017.11:54964775:C:T
Gene:: COX11 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.54964776C>G, NC_000017.11:g.54964776C>T, NC_000017.10:g.53042137C>G, NC_000017.10:g.53042137C>T, NM_004375.5:c.443G>C, NM_004375.5:c.443G>A, NM_004375.4:c.443G>C, NM_004375.4:c.443G>A, NM_004375.3:c.443G>C, NM_004375.3:c.443G>A, XM_011524342.4:c.443G>C, XM_011524342.4:c.443G>A, XM_011524342.3:c.443G>C, XM_011524342.3:c.443G>A, XM_011524342.2:c.443G>C, XM_011524342.2:c.443G>A, XM_011524342.1:c.443G>C, XM_011524342.1:c.443G>A, XM_017024192.3:c.443G>C, XM_017024192.3:c.443G>A, XM_017024192.2:c.443G>C, XM_017024192.2:c.443G>A, XM_017024192.1:c.443G>C, XM_017024192.1:c.443G>A, XM_017024196.3:c.443G>C, XM_017024196.3:c.443G>A, XM_017024196.2:c.443G>C, XM_017024196.2:c.443G>A, XM_017024196.1:c.443G>C, XM_017024196.1:c.443G>A, NR_027941.3:n.451G>C, NR_027941.3:n.451G>A, NR_027941.2:n.582G>C, NR_027941.2:n.582G>A, NR_027941.1:n.500G>C, NR_027941.1:n.500G>A, NR_027942.3:n.451G>C, NR_027942.3:n.451G>A, NR_027942.2:n.582G>C, NR_027942.2:n.582G>A, NR_027942.1:n.500G>C, NR_027942.1:n.500G>A, XM_024450584.2:c.443G>C, XM_024450584.2:c.443G>A, XM_024450584.1:c.443G>C, XM_024450584.1:c.443G>A, XM_024450583.2:c.443G>C, XM_024450583.2:c.443G>A, XM_024450583.1:c.443G>C, XM_024450583.1:c.443G>A, NR_135677.2:n.451G>C, NR_135677.2:n.451G>A, NR_135677.1:n.582G>C, NR_135677.1:n.582G>A, NM_001162861.2:c.443G>C, NM_001162861.2:c.443G>A, NM_001162861.1:c.443G>C, NM_001162861.1:c.443G>A, NM_001162862.2:c.443G>C, NM_001162862.2:c.443G>A, NM_001162862.1:c.443G>C, NM_001162862.1:c.443G>A, XM_047435372.1:c.443G>C, XM_047435372.1:c.443G>A, XM_047435370.1:c.443G>C, XM_047435370.1:c.443G>A, NM_001321518.1:c.443G>C, NM_001321518.1:c.443G>A, NP_004366.1:p.Arg148Pro, NP_004366.1:p.Arg148Gln, XP_011522644.1:p.Arg148Pro, XP_011522644.1:p.Arg148Gln, XP_016879681.1:p.Arg148Pro, XP_016879681.1:p.Arg148Gln, XP_016879685.1:p.Arg148Pro, XP_016879685.1:p.Arg148Gln, XP_024306352.1:p.Arg148Pro, XP_024306352.1:p.Arg148Gln, XP_024306351.1:p.Arg148Pro, XP_024306351.1:p.Arg148Gln, NP_001156333.1:p.Arg148Pro, NP_001156333.1:p.Arg148Gln, NP_001156334.1:p.Arg148Pro, NP_001156334.1:p.Arg148Gln, XP_047291328.1:p.Arg148Pro, XP_047291328.1:p.Arg148Gln, XP_047291326.1:p.Arg148Pro, XP_047291326.1:p.Arg148Gln, NP_001308447.1:p.Arg148Pro, NP_001308447.1:p.Arg148Gln

Select item 14803314645.

rs1480331464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:54963231 (GRCh38)
17:53040592 (GRCh37)
Canonical SPDI:: NC_000017.11:54963230:C:G
Gene:: COX11 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.54963231C>G, NC_000017.10:g.53040592C>G, NM_001321518.1:c.*30G>C

Select item 14799948436.

rs1479994843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:54964846 (GRCh38)
17:53042207 (GRCh37)
Canonical SPDI:: NC_000017.11:54964845:C:T
Gene:: COX11 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.54964846C>T, NC_000017.10:g.53042207C>T, NM_004375.5:c.373G>A, NM_004375.4:c.373G>A, NM_004375.3:c.373G>A, XM_011524342.4:c.373G>A, XM_011524342.3:c.373G>A, XM_011524342.2:c.373G>A, XM_011524342.1:c.373G>A, XM_017024192.3:c.373G>A, XM_017024192.2:c.373G>A, XM_017024192.1:c.373G>A, XM_017024196.3:c.373G>A, XM_017024196.2:c.373G>A, XM_017024196.1:c.373G>A, NR_027941.3:n.381G>A, NR_027941.2:n.512G>A, NR_027941.1:n.430G>A, NR_027942.3:n.381G>A, NR_027942.2:n.512G>A, NR_027942.1:n.430G>A, XM_024450584.2:c.373G>A, XM_024450584.1:c.373G>A, XM_024450583.2:c.373G>A, XM_024450583.1:c.373G>A, NR_135677.2:n.381G>A, NR_135677.1:n.512G>A, NM_001162861.2:c.373G>A, NM_001162861.1:c.373G>A, NM_001162862.2:c.373G>A, NM_001162862.1:c.373G>A, XM_047435372.1:c.373G>A, XM_047435370.1:c.373G>A, NM_001321518.1:c.373G>A, NP_004366.1:p.Gly125Arg, XP_011522644.1:p.Gly125Arg, XP_016879681.1:p.Gly125Arg, XP_016879685.1:p.Gly125Arg, XP_024306352.1:p.Gly125Arg, XP_024306351.1:p.Gly125Arg, NP_001156333.1:p.Gly125Arg, NP_001156334.1:p.Gly125Arg, XP_047291328.1:p.Gly125Arg, XP_047291326.1:p.Gly125Arg, NP_001308447.1:p.Gly125Arg

Select item 14791996697.

rs1479199669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:54968653 (GRCh38)
17:53046014 (GRCh37)
Canonical SPDI:: NC_000017.11:54968652:C:G,NC_000017.11:54968652:C:T
Gene:: COX11 (Varview), STXBP4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.54968653C>G, NC_000017.11:g.54968653C>T, NC_000017.10:g.53046014C>G, NC_000017.10:g.53046014C>T, NM_004375.5:c.-7G>C, NM_004375.5:c.-7G>A, NM_004375.4:c.-7G>C, NM_004375.4:c.-7G>A, NM_004375.3:c.-7G>C, NM_004375.3:c.-7G>A, XM_011524342.4:c.-7G>C, XM_011524342.4:c.-7G>A, XM_011524342.3:c.-7G>C, XM_011524342.3:c.-7G>A, XM_011524342.2:c.-7G>C, XM_011524342.2:c.-7G>A, XM_011524342.1:c.-7G>C, XM_011524342.1:c.-7G>A, XM_017024192.3:c.-7G>C, XM_017024192.3:c.-7G>A, XM_017024192.2:c.-7G>C, XM_017024192.2:c.-7G>A, XM_017024192.1:c.-7G>C, XM_017024192.1:c.-7G>A, XM_017024196.3:c.-7G>C, XM_017024196.3:c.-7G>A, XM_017024196.2:c.-7G>C, XM_017024196.2:c.-7G>A, XM_017024196.1:c.-7G>C, XM_017024196.1:c.-7G>A, NR_027941.3:n.2G>C, NR_027941.3:n.2G>A, NR_027941.2:n.133G>C, NR_027941.2:n.133G>A, NR_027941.1:n.51G>C, NR_027941.1:n.51G>A, NR_027942.3:n.2G>C, NR_027942.3:n.2G>A, NR_027942.2:n.133G>C, NR_027942.2:n.133G>A, NR_027942.1:n.51G>C, NR_027942.1:n.51G>A, XM_024450584.2:c.-7G>C, XM_024450584.2:c.-7G>A, XM_024450584.1:c.-7G>C, XM_024450584.1:c.-7G>A, XM_024450583.2:c.-7G>C, XM_024450583.2:c.-7G>A, XM_024450583.1:c.-7G>C, XM_024450583.1:c.-7G>A, NR_135677.2:n.2G>C, NR_135677.2:n.2G>A, NR_135677.1:n.133G>C, NR_135677.1:n.133G>A, NM_001162861.2:c.-7G>C, NM_001162861.2:c.-7G>A, NM_001162861.1:c.-7G>C, NM_001162861.1:c.-7G>A, NM_001162862.2:c.-7G>C, NM_001162862.2:c.-7G>A, NM_001162862.1:c.-7G>C, NM_001162862.1:c.-7G>A, XM_047435372.1:c.-7G>C, XM_047435372.1:c.-7G>A, XM_047435370.1:c.-7G>C, XM_047435370.1:c.-7G>A, NM_001321518.1:c.-7G>C, NM_001321518.1:c.-7G>A

Select item 14756504388.

rs1475650438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:54968605 (GRCh38)
17:53045966 (GRCh37)
Canonical SPDI:: NC_000017.11:54968604:G:A,NC_000017.11:54968604:G:C
Gene:: COX11 (Varview), STXBP4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.54968605G>A, NC_000017.11:g.54968605G>C, NC_000017.10:g.53045966G>A, NC_000017.10:g.53045966G>C, NM_004375.5:c.42C>T, NM_004375.5:c.42C>G, NM_004375.4:c.42C>T, NM_004375.4:c.42C>G, NM_004375.3:c.42C>T, NM_004375.3:c.42C>G, XM_011524342.4:c.42C>T, XM_011524342.4:c.42C>G, XM_011524342.3:c.42C>T, XM_011524342.3:c.42C>G, XM_011524342.2:c.42C>T, XM_011524342.2:c.42C>G, XM_011524342.1:c.42C>T, XM_011524342.1:c.42C>G, XM_017024192.3:c.42C>T, XM_017024192.3:c.42C>G, XM_017024192.2:c.42C>T, XM_017024192.2:c.42C>G, XM_017024192.1:c.42C>T, XM_017024192.1:c.42C>G, XM_017024196.3:c.42C>T, XM_017024196.3:c.42C>G, XM_017024196.2:c.42C>T, XM_017024196.2:c.42C>G, XM_017024196.1:c.42C>T, XM_017024196.1:c.42C>G, NR_027941.3:n.50C>T, NR_027941.3:n.50C>G, NR_027941.2:n.181C>T, NR_027941.2:n.181C>G, NR_027941.1:n.99C>T, NR_027941.1:n.99C>G, NR_027942.3:n.50C>T, NR_027942.3:n.50C>G, NR_027942.2:n.181C>T, NR_027942.2:n.181C>G, NR_027942.1:n.99C>T, NR_027942.1:n.99C>G, XM_024450584.2:c.42C>T, XM_024450584.2:c.42C>G, XM_024450584.1:c.42C>T, XM_024450584.1:c.42C>G, XM_024450583.2:c.42C>T, XM_024450583.2:c.42C>G, XM_024450583.1:c.42C>T, XM_024450583.1:c.42C>G, NR_135677.2:n.50C>T, NR_135677.2:n.50C>G, NR_135677.1:n.181C>T, NR_135677.1:n.181C>G, NM_001162861.2:c.42C>T, NM_001162861.2:c.42C>G, NM_001162861.1:c.42C>T, NM_001162861.1:c.42C>G, NM_001162862.2:c.42C>T, NM_001162862.2:c.42C>G, NM_001162862.1:c.42C>T, NM_001162862.1:c.42C>G, XM_047435372.1:c.42C>T, XM_047435372.1:c.42C>G, XM_047435370.1:c.42C>T, XM_047435370.1:c.42C>G, NM_001321518.1:c.42C>T, NM_001321518.1:c.42C>G, NP_004366.1:p.Phe14Leu, XP_011522644.1:p.Phe14Leu, XP_016879681.1:p.Phe14Leu, XP_016879685.1:p.Phe14Leu, XP_024306352.1:p.Phe14Leu, XP_024306351.1:p.Phe14Leu, NP_001156333.1:p.Phe14Leu, NP_001156334.1:p.Phe14Leu, XP_047291328.1:p.Phe14Leu, XP_047291326.1:p.Phe14Leu, NP_001308447.1:p.Phe14Leu

Select item 14749952469.

rs1474995246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:54963427 (GRCh38)
17:53040788 (GRCh37)
Canonical SPDI:: NC_000017.11:54963426:A:T
Gene:: COX11 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.54963427A>T, NC_000017.10:g.53040788A>T, NM_004375.5:c.527T>A, NM_004375.4:c.527T>A, NM_004375.3:c.527T>A, XM_011524342.4:c.527T>A, XM_011524342.3:c.527T>A, XM_011524342.2:c.527T>A, XM_011524342.1:c.527T>A, XM_017024192.3:c.527T>A, XM_017024192.2:c.527T>A, XM_017024192.1:c.527T>A, XM_017024196.3:c.527T>A, XM_017024196.2:c.527T>A, XM_017024196.1:c.527T>A, NR_027941.3:n.535T>A, NR_027941.2:n.666T>A, NR_027941.1:n.584T>A, NR_027942.3:n.535T>A, NR_027942.2:n.666T>A, NR_027942.1:n.584T>A, XM_024450584.2:c.527T>A, XM_024450584.1:c.527T>A, XM_024450583.2:c.527T>A, XM_024450583.1:c.527T>A, NR_135677.2:n.535T>A, NR_135677.1:n.666T>A, NM_001162861.2:c.527T>A, NM_001162861.1:c.527T>A, NM_001162862.2:c.527T>A, NM_001162862.1:c.527T>A, XM_047435372.1:c.527T>A, XM_047435370.1:c.527T>A, NM_001321518.1:c.527T>A, NP_004366.1:p.Val176Glu, XP_011522644.1:p.Val176Glu, XP_016879681.1:p.Val176Glu, XP_016879685.1:p.Val176Glu, XP_024306352.1:p.Val176Glu, XP_024306351.1:p.Val176Glu, NP_001156333.1:p.Val176Glu, NP_001156334.1:p.Val176Glu, XP_047291328.1:p.Val176Glu, XP_047291326.1:p.Val176Glu, NP_001308447.1:p.Val176Glu

Select item 147374993810.

rs1473749938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:54963128 (GRCh38)
17:53040489 (GRCh37)
Canonical SPDI:: NC_000017.11:54963127:A:G
Gene:: COX11 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_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_000017.11:g.54963128A>G, NC_000017.10:g.53040489A>G, NM_001321518.1:c.*133T>C

Select item 147288609011.

rs1472886090 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTTT [Show Flanks]
Chromosome:: 17:54964781 (GRCh38)
17:53042142 (GRCh37)
Canonical SPDI:: NC_000017.11:54964780:TTT:TT,NC_000017.11:54964780:TTT:TTTT,NC_000017.11:54964780:TTT:TTTTTT
Gene:: COX11 (Varview)
Functional Consequence:: inframe_insertion,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
TTT=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.54964783del, NC_000017.11:g.54964783dup, NC_000017.11:g.54964781_54964783dup, NC_000017.10:g.53042144del, NC_000017.10:g.53042144dup, NC_000017.10:g.53042142_53042144dup, NM_004375.5:c.438del, NM_004375.5:c.438dup, NM_004375.5:c.436_438dup, NM_004375.4:c.438del, NM_004375.4:c.438dup, NM_004375.4:c.436_438dup, NM_004375.3:c.438del, NM_004375.3:c.438dup, NM_004375.3:c.436_438dup, XM_011524342.4:c.438del, XM_011524342.4:c.438dup, XM_011524342.4:c.436_438dup, XM_011524342.3:c.438del, XM_011524342.3:c.438dup, XM_011524342.3:c.436_438dup, XM_011524342.2:c.438del, XM_011524342.2:c.438dup, XM_011524342.2:c.436_438dup, XM_011524342.1:c.438del, XM_011524342.1:c.438dup, XM_011524342.1:c.436_438dup, XM_017024192.3:c.438del, XM_017024192.3:c.438dup, XM_017024192.3:c.436_438dup, XM_017024192.2:c.438del, XM_017024192.2:c.438dup, XM_017024192.2:c.436_438dup, XM_017024192.1:c.438del, XM_017024192.1:c.438dup, XM_017024192.1:c.436_438dup, XM_017024196.3:c.438del, XM_017024196.3:c.438dup, XM_017024196.3:c.436_438dup, XM_017024196.2:c.438del, XM_017024196.2:c.438dup, XM_017024196.2:c.436_438dup, XM_017024196.1:c.438del, XM_017024196.1:c.438dup, XM_017024196.1:c.436_438dup, NR_027941.3:n.446del, NR_027941.3:n.446dup, NR_027941.3:n.444_446dup, NR_027941.2:n.577del, NR_027941.2:n.577dup, NR_027941.2:n.575_577dup, NR_027941.1:n.495del, NR_027941.1:n.495dup, NR_027941.1:n.493_495dup, NR_027942.3:n.446del, NR_027942.3:n.446dup, NR_027942.3:n.444_446dup, NR_027942.2:n.577del, NR_027942.2:n.577dup, NR_027942.2:n.575_577dup, NR_027942.1:n.495del, NR_027942.1:n.495dup, NR_027942.1:n.493_495dup, XM_024450584.2:c.438del, XM_024450584.2:c.438dup, XM_024450584.2:c.436_438dup, XM_024450584.1:c.438del, XM_024450584.1:c.438dup, XM_024450584.1:c.436_438dup, XM_024450583.2:c.438del, XM_024450583.2:c.438dup, XM_024450583.2:c.436_438dup, XM_024450583.1:c.438del, XM_024450583.1:c.438dup, XM_024450583.1:c.436_438dup, NR_135677.2:n.446del, NR_135677.2:n.446dup, NR_135677.2:n.444_446dup, NR_135677.1:n.577del, NR_135677.1:n.577dup, NR_135677.1:n.575_577dup, NM_001162861.2:c.438del, NM_001162861.2:c.438dup, NM_001162861.2:c.436_438dup, NM_001162861.1:c.438del, NM_001162861.1:c.438dup, NM_001162861.1:c.436_438dup, NM_001162862.2:c.438del, NM_001162862.2:c.438dup, NM_001162862.2:c.436_438dup, NM_001162862.1:c.438del, NM_001162862.1:c.438dup, NM_001162862.1:c.436_438dup, XM_047435372.1:c.438del, XM_047435372.1:c.438dup, XM_047435372.1:c.436_438dup, XM_047435370.1:c.438del, XM_047435370.1:c.438dup, XM_047435370.1:c.436_438dup, NM_001321518.1:c.438del, NM_001321518.1:c.438dup, NM_001321518.1:c.436_438dup, NP_004366.1:p.Asp147fs, NP_004366.1:p.Asp147fs, NP_004366.1:p.Lys146dup, XP_011522644.1:p.Asp147fs, XP_011522644.1:p.Asp147fs, XP_011522644.1:p.Lys146dup, XP_016879681.1:p.Asp147fs, XP_016879681.1:p.Asp147fs, XP_016879681.1:p.Lys146dup, XP_016879685.1:p.Asp147fs, XP_016879685.1:p.Asp147fs, XP_016879685.1:p.Lys146dup, XP_024306352.1:p.Asp147fs, XP_024306352.1:p.Asp147fs, XP_024306352.1:p.Lys146dup, XP_024306351.1:p.Asp147fs, XP_024306351.1:p.Asp147fs, XP_024306351.1:p.Lys146dup, NP_001156333.1:p.Asp147fs, NP_001156333.1:p.Asp147fs, NP_001156333.1:p.Lys146dup, NP_001156334.1:p.Asp147fs, NP_001156334.1:p.Asp147fs, NP_001156334.1:p.Lys146dup, XP_047291328.1:p.Asp147fs, XP_047291328.1:p.Asp147fs, XP_047291328.1:p.Lys146dup, XP_047291326.1:p.Asp147fs, XP_047291326.1:p.Asp147fs, XP_047291326.1:p.Lys146dup, NP_001308447.1:p.Asp147fs, NP_001308447.1:p.Asp147fs, NP_001308447.1:p.Lys146dup

Select item 146933991112.

rs1469339911 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCGTCTCGCGAGGCGTGCT [Show Flanks]
Chromosome:: 17:54968694 (GRCh38)
17:53046056 (GRCh37)
Canonical SPDI:: NC_000017.11:54968694:TCTCGCGAGGCGTGCT:TCTCGCGAGGCGTGCTGCGTCTCGCGAGGCGTGCT
Gene:: COX11 (Varview), STXBP4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTCGCGAGGCGTGCTGCGTCTCGCGAGGCGTGCT=0./0 (ALFA)
TCTCGCGAGGCGTGCTGCG=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.54968695_54968710TC[2]GCGAGGCGTGCTGCGTCTCGCGAGGCGTGCT[1], NC_000017.10:g.53046056_53046071TC[2]GCGAGGCGTGCTGCGTCTCGCGAGGCGTGCT[1], XM_011524342.4:c.-49_-48insCGCAGCACGCCTCGCGAGA, XM_011524342.3:c.-50_-49insCACGCCTCGCGAG, XM_011524342.3:c.-50_-49insCACGCCTCGCGAGACGCAGCACGCCTCGCGAG, XM_011524342.2:c.-49_-48insCGCAGCACGCCTCGCGAGA, XM_011524342.1:c.-49_-48insCGCAGCACGCCTCGCGAGA, NM_004375.4:c.-49_-48insCGCAGCACGCCTCGCGAGA, XM_017024192.3:c.-49_-48insCGCAGCACGCCTCGCGAGA, XM_017024192.2:c.-50_-49insCACGCCTCGCGAG, XM_017024192.2:c.-50_-49insCACGCCTCGCGAGACGCAGCACGCCTCGCGAG, XM_017024192.1:c.-49_-48insCGCAGCACGCCTCGCGAGA, XM_017024196.3:c.-49_-48insCGCAGCACGCCTCGCGAGA, XM_017024196.2:c.-50_-49insCACGCCTCGCGAG, XM_017024196.2:c.-50_-49insCACGCCTCGCGAGACGCAGCACGCCTCGCGAG, XM_017024196.1:c.-49_-48insCGCAGCACGCCTCGCGAGA, XM_024450584.2:c.-49_-48insCGCAGCACGCCTCGCGAGA, XM_024450584.1:c.-50_-49insCACGCCTCGCGAG, XM_024450584.1:c.-50_-49insCACGCCTCGCGAGACGCAGCACGCCTCGCGAG, XM_024450583.2:c.-49_-48insCGCAGCACGCCTCGCGAGA, XM_024450583.1:c.-50_-49insCACGCCTCGCGAG, XM_024450583.1:c.-50_-49insCACGCCTCGCGAGACGCAGCACGCCTCGCGAG, NR_027941.2:n.91_92insCGCAGCACGCCTCGCGAGA, NR_027942.2:n.91_92insCGCAGCACGCCTCGCGAGA, NM_001162861.2:c.-49_-48insCGCAGCACGCCTCGCGAGA, NM_001162861.1:c.*4294966546_-57insAGCACGC, NM_001162861.1:c.*4294966546_-57insAGCACGCCTCGCGAGACGCAGCACGC, NM_001162862.2:c.-49_-48insCGCAGCACGCCTCGCGAGA, NM_001162862.1:c.*4294966543_-57insAGCACGC, NM_001162862.1:c.*4294966543_-57insAGCACGCCTCGCGAGACGCAGCACGC, XM_047435372.1:c.-49_-48insCGCAGCACGCCTCGCGAGA, XM_047435370.1:c.-49_-48insCGCAGCACGCCTCGCGAGA, NR_135677.1:n.91_92insCGCAGCACGCCTCGCGAGA, NM_001321518.1:c.-49_-48insCGCAGCACGCCTCGCGAGA

Select item 146010198013.

rs1460101980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:54968590 (GRCh38)
17:53045951 (GRCh37)
Canonical SPDI:: NC_000017.11:54968589:C:T
Gene:: COX11 (Varview), STXBP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,stop_gained,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.54968590C>T, NC_000017.10:g.53045951C>T, NM_004375.5:c.57G>A, NM_004375.4:c.57G>A, NM_004375.3:c.57G>A, XM_011524342.4:c.57G>A, XM_011524342.3:c.57G>A, XM_011524342.2:c.57G>A, XM_011524342.1:c.57G>A, XM_017024192.3:c.57G>A, XM_017024192.2:c.57G>A, XM_017024192.1:c.57G>A, XM_017024196.3:c.57G>A, XM_017024196.2:c.57G>A, XM_017024196.1:c.57G>A, NR_027941.3:n.65G>A, NR_027941.2:n.196G>A, NR_027941.1:n.114G>A, NR_027942.3:n.65G>A, NR_027942.2:n.196G>A, NR_027942.1:n.114G>A, XM_024450584.2:c.57G>A, XM_024450584.1:c.57G>A, XM_024450583.2:c.57G>A, XM_024450583.1:c.57G>A, NR_135677.2:n.65G>A, NR_135677.1:n.196G>A, NM_001162861.2:c.57G>A, NM_001162861.1:c.57G>A, NM_001162862.2:c.57G>A, NM_001162862.1:c.57G>A, XM_047435372.1:c.57G>A, XM_047435370.1:c.57G>A, NM_001321518.1:c.57G>A, NP_004366.1:p.Trp19Ter, XP_011522644.1:p.Trp19Ter, XP_016879681.1:p.Trp19Ter, XP_016879685.1:p.Trp19Ter, XP_024306352.1:p.Trp19Ter, XP_024306351.1:p.Trp19Ter, NP_001156333.1:p.Trp19Ter, NP_001156334.1:p.Trp19Ter, XP_047291328.1:p.Trp19Ter, XP_047291326.1:p.Trp19Ter, NP_001308447.1:p.Trp19Ter

Select item 145999148414.

rs1459991484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:54968517 (GRCh38)
17:53045878 (GRCh37)
Canonical SPDI:: NC_000017.11:54968516:C:T
Gene:: COX11 (Varview), STXBP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.54968517C>T, NC_000017.10:g.53045878C>T, NM_004375.5:c.130G>A, NM_004375.4:c.130G>A, NM_004375.3:c.130G>A, XM_011524342.4:c.130G>A, XM_011524342.3:c.130G>A, XM_011524342.2:c.130G>A, XM_011524342.1:c.130G>A, XM_017024192.3:c.130G>A, XM_017024192.2:c.130G>A, XM_017024192.1:c.130G>A, XM_017024196.3:c.130G>A, XM_017024196.2:c.130G>A, XM_017024196.1:c.130G>A, NR_027941.3:n.138G>A, NR_027941.2:n.269G>A, NR_027941.1:n.187G>A, NR_027942.3:n.138G>A, NR_027942.2:n.269G>A, NR_027942.1:n.187G>A, XM_024450584.2:c.130G>A, XM_024450584.1:c.130G>A, XM_024450583.2:c.130G>A, XM_024450583.1:c.130G>A, NR_135677.2:n.138G>A, NR_135677.1:n.269G>A, NM_001162861.2:c.130G>A, NM_001162861.1:c.130G>A, NM_001162862.2:c.130G>A, NM_001162862.1:c.130G>A, XM_047435372.1:c.130G>A, XM_047435370.1:c.130G>A, NM_001321518.1:c.130G>A, NP_004366.1:p.Gly44Arg, XP_011522644.1:p.Gly44Arg, XP_016879681.1:p.Gly44Arg, XP_016879685.1:p.Gly44Arg, XP_024306352.1:p.Gly44Arg, XP_024306351.1:p.Gly44Arg, NP_001156333.1:p.Gly44Arg, NP_001156334.1:p.Gly44Arg, XP_047291328.1:p.Gly44Arg, XP_047291326.1:p.Gly44Arg, NP_001308447.1:p.Gly44Arg

Select item 145796597115.

rs1457965971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:54968304 (GRCh38)
17:53045665 (GRCh37)
Canonical SPDI:: NC_000017.11:54968303:G:A,NC_000017.11:54968303:G:C
Gene:: COX11 (Varview), STXBP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.54968304G>A, NC_000017.11:g.54968304G>C, NC_000017.10:g.53045665G>A, NC_000017.10:g.53045665G>C, NM_004375.5:c.343C>T, NM_004375.5:c.343C>G, NM_004375.4:c.343C>T, NM_004375.4:c.343C>G, NM_004375.3:c.343C>T, NM_004375.3:c.343C>G, XM_011524342.4:c.343C>T, XM_011524342.4:c.343C>G, XM_011524342.3:c.343C>T, XM_011524342.3:c.343C>G, XM_011524342.2:c.343C>T, XM_011524342.2:c.343C>G, XM_011524342.1:c.343C>T, XM_011524342.1:c.343C>G, XM_017024192.3:c.343C>T, XM_017024192.3:c.343C>G, XM_017024192.2:c.343C>T, XM_017024192.2:c.343C>G, XM_017024192.1:c.343C>T, XM_017024192.1:c.343C>G, XM_017024196.3:c.343C>T, XM_017024196.3:c.343C>G, XM_017024196.2:c.343C>T, XM_017024196.2:c.343C>G, XM_017024196.1:c.343C>T, XM_017024196.1:c.343C>G, NR_027941.3:n.351C>T, NR_027941.3:n.351C>G, NR_027941.2:n.482C>T, NR_027941.2:n.482C>G, NR_027941.1:n.400C>T, NR_027941.1:n.400C>G, NR_027942.3:n.351C>T, NR_027942.3:n.351C>G, NR_027942.2:n.482C>T, NR_027942.2:n.482C>G, NR_027942.1:n.400C>T, NR_027942.1:n.400C>G, XM_024450584.2:c.343C>T, XM_024450584.2:c.343C>G, XM_024450584.1:c.343C>T, XM_024450584.1:c.343C>G, XM_024450583.2:c.343C>T, XM_024450583.2:c.343C>G, XM_024450583.1:c.343C>T, XM_024450583.1:c.343C>G, NR_135677.2:n.351C>T, NR_135677.2:n.351C>G, NR_135677.1:n.482C>T, NR_135677.1:n.482C>G, NM_001162861.2:c.343C>T, NM_001162861.2:c.343C>G, NM_001162861.1:c.343C>T, NM_001162861.1:c.343C>G, NM_001162862.2:c.343C>T, NM_001162862.2:c.343C>G, NM_001162862.1:c.343C>T, NM_001162862.1:c.343C>G, XM_047435372.1:c.343C>T, XM_047435372.1:c.343C>G, XM_047435370.1:c.343C>T, XM_047435370.1:c.343C>G, NM_001321518.1:c.343C>T, NM_001321518.1:c.343C>G, NP_004366.1:p.Pro115Ser, NP_004366.1:p.Pro115Ala, XP_011522644.1:p.Pro115Ser, XP_011522644.1:p.Pro115Ala, XP_016879681.1:p.Pro115Ser, XP_016879681.1:p.Pro115Ala, XP_016879685.1:p.Pro115Ser, XP_016879685.1:p.Pro115Ala, XP_024306352.1:p.Pro115Ser, XP_024306352.1:p.Pro115Ala, XP_024306351.1:p.Pro115Ser, XP_024306351.1:p.Pro115Ala, NP_001156333.1:p.Pro115Ser, NP_001156333.1:p.Pro115Ala, NP_001156334.1:p.Pro115Ser, NP_001156334.1:p.Pro115Ala, XP_047291328.1:p.Pro115Ser, XP_047291328.1:p.Pro115Ala, XP_047291326.1:p.Pro115Ser, XP_047291326.1:p.Pro115Ala, NP_001308447.1:p.Pro115Ser, NP_001308447.1:p.Pro115Ala

Select item 145661098416.

rs1456610984 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:54962931 (GRCh38)
17:53040292 (GRCh37)
Canonical SPDI:: NC_000017.11:54962930:A:G
Gene:: COX11 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.54962931A>G, NC_000017.10:g.53040292A>G, NM_001321518.1:c.*330T>C

Select item 145494070117.

rs1454940701 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:54968724 (GRCh38)
17:53046085 (GRCh37)
Canonical SPDI:: NC_000017.11:54968723:T:A,NC_000017.11:54968723:T:C
Gene:: COX11 (Varview), STXBP4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.54968724T>A, NC_000017.11:g.54968724T>C, NC_000017.10:g.53046085T>A, NC_000017.10:g.53046085T>C, XM_011524342.4:c.-78A>T, XM_011524342.4:c.-78A>G, XM_011524342.2:c.-78A>T, XM_011524342.2:c.-78A>G, XM_011524342.1:c.-78A>T, XM_011524342.1:c.-78A>G, NM_004375.4:c.-78A>T, NM_004375.4:c.-78A>G, XM_017024192.3:c.-78A>T, XM_017024192.3:c.-78A>G, XM_017024192.1:c.-78A>T, XM_017024192.1:c.-78A>G, XM_017024196.3:c.-78A>T, XM_017024196.3:c.-78A>G, XM_017024196.1:c.-78A>T, XM_017024196.1:c.-78A>G, XM_024450584.2:c.-78A>T, XM_024450584.2:c.-78A>G, XM_024450583.2:c.-78A>T, XM_024450583.2:c.-78A>G, NR_027941.2:n.62A>T, NR_027941.2:n.62A>G, NR_027942.2:n.62A>T, NR_027942.2:n.62A>G, NM_001162861.2:c.-78A>T, NM_001162861.2:c.-78A>G, NM_001162862.2:c.-78A>T, NM_001162862.2:c.-78A>G, XM_047435372.1:c.-78A>T, XM_047435372.1:c.-78A>G, XM_047435370.1:c.-78A>T, XM_047435370.1:c.-78A>G, NR_135677.1:n.62A>T, NR_135677.1:n.62A>G, NM_001321518.1:c.-78A>T, NM_001321518.1:c.-78A>G

Select item 145312629318.

rs1453126293 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:54968424 (GRCh38)
17:53045785 (GRCh37)
Canonical SPDI:: NC_000017.11:54968423:T:C,NC_000017.11:54968423:T:G
Gene:: COX11 (Varview), STXBP4 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.54968424T>C, NC_000017.11:g.54968424T>G, NC_000017.10:g.53045785T>C, NC_000017.10:g.53045785T>G, NM_004375.5:c.223A>G, NM_004375.5:c.223A>C, NM_004375.4:c.223A>G, NM_004375.4:c.223A>C, NM_004375.3:c.223A>G, NM_004375.3:c.223A>C, XM_011524342.4:c.223A>G, XM_011524342.4:c.223A>C, XM_011524342.3:c.223A>G, XM_011524342.3:c.223A>C, XM_011524342.2:c.223A>G, XM_011524342.2:c.223A>C, XM_011524342.1:c.223A>G, XM_011524342.1:c.223A>C, XM_017024192.3:c.223A>G, XM_017024192.3:c.223A>C, XM_017024192.2:c.223A>G, XM_017024192.2:c.223A>C, XM_017024192.1:c.223A>G, XM_017024192.1:c.223A>C, XM_017024196.3:c.223A>G, XM_017024196.3:c.223A>C, XM_017024196.2:c.223A>G, XM_017024196.2:c.223A>C, XM_017024196.1:c.223A>G, XM_017024196.1:c.223A>C, NR_027941.3:n.231A>G, NR_027941.3:n.231A>C, NR_027941.2:n.362A>G, NR_027941.2:n.362A>C, NR_027941.1:n.280A>G, NR_027941.1:n.280A>C, NR_027942.3:n.231A>G, NR_027942.3:n.231A>C, NR_027942.2:n.362A>G, NR_027942.2:n.362A>C, NR_027942.1:n.280A>G, NR_027942.1:n.280A>C, XM_024450584.2:c.223A>G, XM_024450584.2:c.223A>C, XM_024450584.1:c.223A>G, XM_024450584.1:c.223A>C, XM_024450583.2:c.223A>G, XM_024450583.2:c.223A>C, XM_024450583.1:c.223A>G, XM_024450583.1:c.223A>C, NR_135677.2:n.231A>G, NR_135677.2:n.231A>C, NR_135677.1:n.362A>G, NR_135677.1:n.362A>C, NM_001162861.2:c.223A>G, NM_001162861.2:c.223A>C, NM_001162861.1:c.223A>G, NM_001162861.1:c.223A>C, NM_001162862.2:c.223A>G, NM_001162862.2:c.223A>C, NM_001162862.1:c.223A>G, NM_001162862.1:c.223A>C, XM_047435372.1:c.223A>G, XM_047435372.1:c.223A>C, XM_047435370.1:c.223A>G, XM_047435370.1:c.223A>C, NM_001321518.1:c.223A>G, NM_001321518.1:c.223A>C, NP_004366.1:p.Lys75Glu, NP_004366.1:p.Lys75Gln, XP_011522644.1:p.Lys75Glu, XP_011522644.1:p.Lys75Gln, XP_016879681.1:p.Lys75Glu, XP_016879681.1:p.Lys75Gln, XP_016879685.1:p.Lys75Glu, XP_016879685.1:p.Lys75Gln, XP_024306352.1:p.Lys75Glu, XP_024306352.1:p.Lys75Gln, XP_024306351.1:p.Lys75Glu, XP_024306351.1:p.Lys75Gln, NP_001156333.1:p.Lys75Glu, NP_001156333.1:p.Lys75Gln, NP_001156334.1:p.Lys75Glu, NP_001156334.1:p.Lys75Gln, XP_047291328.1:p.Lys75Glu, XP_047291328.1:p.Lys75Gln, XP_047291326.1:p.Lys75Glu, XP_047291326.1:p.Lys75Gln, NP_001308447.1:p.Lys75Glu, NP_001308447.1:p.Lys75Gln

Select item 144627196419.

rs1446271964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:54968677 (GRCh38)
17:53046038 (GRCh37)
Canonical SPDI:: NC_000017.11:54968676:C:G
Gene:: COX11 (Varview), STXBP4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000017.11:g.54968677C>G, NC_000017.10:g.53046038C>G, XM_011524342.4:c.-31G>C, XM_011524342.3:c.-31G>C, XM_011524342.2:c.-31G>C, XM_011524342.1:c.-31G>C, NM_004375.4:c.-31G>C, XM_017024192.3:c.-31G>C, XM_017024192.2:c.-31G>C, XM_017024192.1:c.-31G>C, NM_004375.3:c.-31G>C, XM_017024196.3:c.-31G>C, XM_017024196.2:c.-31G>C, XM_017024196.1:c.-31G>C, XM_024450584.2:c.-31G>C, XM_024450584.1:c.-31G>C, XM_024450583.2:c.-31G>C, XM_024450583.1:c.-31G>C, NR_027941.2:n.109G>C, NR_027942.2:n.109G>C, NM_001162861.2:c.-31G>C, NM_001162861.1:c.-31G>C, NM_001162862.2:c.-31G>C, NM_001162862.1:c.-31G>C, XM_047435372.1:c.-31G>C, XM_047435370.1:c.-31G>C, NR_135677.1:n.109G>C, NM_001321518.1:c.-31G>C, NR_027941.1:n.27G>C, NR_027942.1:n.27G>C

Select item 144538458920.

rs1445384589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:54968780 (GRCh38)
17:53046141 (GRCh37)
Canonical SPDI:: NC_000017.11:54968779:C:G
Gene:: COX11 (Varview), STXBP4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.54968780C>G, NC_000017.10:g.53046141C>G, NM_178509.6:c.-192C>G, NM_178509.5:c.-192C>G, XM_006721797.5:c.-192C>G, XM_006721797.4:c.-192C>G, XM_006721797.3:c.-192C>G, XM_006721797.2:c.-192C>G, XM_011524342.4:c.-134G>C, XM_011524342.2:c.-134G>C, XM_011524342.1:c.-134G>C, NM_004375.4:c.-134G>C, XM_017024411.3:c.-192C>G, XM_017024411.2:c.-192C>G, XM_017024411.1:c.-192C>G, XM_017024192.3:c.-134G>C, XM_017024192.1:c.-134G>C, XM_017024196.3:c.-134G>C, XM_017024196.1:c.-134G>C, XM_017024414.3:c.-192C>G, XM_017024414.2:c.-192C>G, XM_017024414.1:c.-192C>G, XM_017024410.2:c.-192C>G, XM_017024410.1:c.-192C>G, XM_024450584.2:c.-134G>C, XM_024450583.2:c.-134G>C, NR_027941.2:n.6G>C, NR_027942.2:n.6G>C, NM_001162861.2:c.-134G>C, NM_001162862.2:c.-134G>C, XM_047435714.1:c.-192C>G, NM_001398481.1:c.-192C>G, XM_047435716.1:c.-192C>G, XM_047435372.1:c.-134G>C, XM_047435713.1:c.-192C>G, XM_047435715.1:c.-192C>G, XM_047435717.1:c.-192C>G, NM_001398483.1:c.-192C>G, XR_007065289.1:n.16C>G, XM_047435370.1:c.-134G>C, NR_135677.1:n.6G>C, NM_001398482.1:c.-192C>G, NM_001321518.1:c.-134G>C

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