SNP Links for Nucleotide (Select 578836220) - SNP

Links from Nucleotide

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Select item 14892249181.

rs1489224918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:44066839 (GRCh38)
20:42695479 (GRCh37)
Canonical SPDI:: NC_000020.11:44066838:G:A
Gene:: TOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.44066839G>A, NC_000020.10:g.42695479G>A, NM_032883.3:c.1340G>A, NM_032883.2:c.1340G>A, NM_001098797.2:c.1466G>A, NM_001098797.1:c.1466G>A, NM_001098796.2:c.1340G>A, NM_001098796.1:c.1340G>A, NM_001098798.2:c.1412G>A, NM_001098798.1:c.1412G>A, XM_017028109.2:c.863G>A, XM_017028109.1:c.863G>A, XM_047440561.1:c.1340G>A, XM_006723884.1:c.1493G>A, XM_047440560.1:c.1340G>A, XM_047440564.1:c.1016G>A, XM_047440565.1:c.989G>A, XM_047440563.1:c.*90G>A, XM_047440562.1:c.*90G>A, NP_116272.1:p.Cys447Tyr, NP_001092267.1:p.Cys489Tyr, NP_001092266.1:p.Cys447Tyr, NP_001092268.1:p.Cys471Tyr, XP_016883598.1:p.Cys288Tyr, XP_047296517.1:p.Cys447Tyr, XP_006723947.1:p.Cys498Tyr, XP_047296516.1:p.Cys447Tyr, XP_047296520.1:p.Cys339Tyr, XP_047296521.1:p.Cys330Tyr

Select item 14887670392.

rs1488767039 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:44068949 (GRCh38)
20:42697590 (GRCh37)
Canonical SPDI:: NC_000020.11:44068949:CC:CCC
Gene:: TOX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.44068951dup, NC_000020.10:g.42697591dup, NM_032883.3:c.*265dup, NM_032883.2:c.*265dup, NM_001098797.2:c.*265dup, NM_001098797.1:c.*265dup, NM_001098796.2:c.*265dup, NM_001098796.1:c.*265dup, NM_001098798.2:c.*265dup, NM_001098798.1:c.*265dup, XM_017028109.2:c.*265dup, XM_017028109.1:c.*265dup, XM_047440561.1:c.*265dup, XM_006723884.1:c.*265dup, XM_047440560.1:c.*265dup, XM_047440564.1:c.*265dup, XM_047440565.1:c.*265dup

Select item 14887480173.

rs1488748017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:43973402 (GRCh38)
20:42602042 (GRCh37)
Canonical SPDI:: NC_000020.11:43973401:C:T
Gene:: TOX2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000057/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000071/2 (TOMMO)
HGVS:: NC_000020.11:g.43973402C>T, NC_000020.10:g.42602042C>T, NM_032883.3:c.9C>T, NM_032883.2:c.9C>T, NM_001098797.2:c.135C>T, NM_001098797.1:c.135C>T, NM_001098796.2:c.9C>T, NM_001098796.1:c.9C>T, NM_001098798.2:c.162C>T, NM_001098798.1:c.162C>T, XM_017028109.2:c.9C>T, XM_017028109.1:c.9C>T, XM_047440561.1:c.9C>T, XM_006723884.1:c.162C>T, XM_047440560.1:c.9C>T, XM_047440564.1:c.162C>T, XM_047440565.1:c.135C>T, XM_047440563.1:c.135C>T, XM_047440562.1:c.9C>T

Select item 14882303574.

rs1488230357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:44069543 (GRCh38)
20:42698183 (GRCh37)
Canonical SPDI:: NC_000020.11:44069542:C:G
Gene:: TOX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.44069543C>G, NC_000020.10:g.42698183C>G, NM_032883.3:c.*857C>G, NM_032883.2:c.*857C>G, NM_001098797.2:c.*857C>G, NM_001098797.1:c.*857C>G, NM_001098796.2:c.*857C>G, NM_001098796.1:c.*857C>G, NM_001098798.2:c.*857C>G, NM_001098798.1:c.*857C>G, XM_017028109.2:c.*857C>G, XM_017028109.1:c.*857C>G, XM_047440561.1:c.*857C>G, XM_006723884.1:c.*857C>G, XM_047440560.1:c.*857C>G, XM_047440564.1:c.*857C>G, XM_047440565.1:c.*857C>G

Select item 14873377965.

rs1487337796 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:44069401 (GRCh38)
20:42698041 (GRCh37)
Canonical SPDI:: NC_000020.11:44069400:T:G
Gene:: TOX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.44069401T>G, NC_000020.10:g.42698041T>G, NM_032883.3:c.*715T>G, NM_032883.2:c.*715T>G, NM_001098797.2:c.*715T>G, NM_001098797.1:c.*715T>G, NM_001098796.2:c.*715T>G, NM_001098796.1:c.*715T>G, NM_001098798.2:c.*715T>G, NM_001098798.1:c.*715T>G, XM_017028109.2:c.*715T>G, XM_017028109.1:c.*715T>G, XM_047440561.1:c.*715T>G, XM_006723884.1:c.*715T>G, XM_047440560.1:c.*715T>G, XM_047440564.1:c.*715T>G, XM_047440565.1:c.*715T>G

Select item 14872977036.

rs1487297703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:44065876 (GRCh38)
20:42694516 (GRCh37)
Canonical SPDI:: NC_000020.11:44065875:G:T
Gene:: TOX2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.44065876G>T, NC_000020.10:g.42694516G>T, NM_032883.3:c.999G>T, NM_032883.2:c.999G>T, NM_001098797.2:c.1125G>T, NM_001098797.1:c.1125G>T, NM_001098796.2:c.999G>T, NM_001098796.1:c.999G>T, NM_001098798.2:c.1071G>T, NM_001098798.1:c.1071G>T, XM_047440561.1:c.999G>T, XM_006723884.1:c.1152G>T, XM_047440560.1:c.999G>T, XM_047440563.1:c.1125G>T, XM_047440562.1:c.999G>T

Select item 14861008547.

rs1486100854 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCCCCAGCTCC [Show Flanks]
Chromosome:: 20:44068984 (GRCh38)
20:42697625 (GRCh37)
Canonical SPDI:: NC_000020.11:44068984:CCGGCCCCAGCTCC:CCGGCCCCAGCTCCGGCCCCAGCTCC
Gene:: TOX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGGCCCCAGCTCCGGCCCCAGCTCC=0./0 (ALFA)
CCGGCCCCAGCT=0.000011/3 (TOPMED)
CCGGCCCCAGCT=0.000014/2 (GnomAD)
CCGGCCCCAGCT=0.000017/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.44068987_44068998dup, NC_000020.10:g.42697627_42697638dup, NM_032883.3:c.*301_*312dup, NM_032883.2:c.*301_*312dup, NM_001098797.2:c.*301_*312dup, NM_001098797.1:c.*301_*312dup, NM_001098796.2:c.*301_*312dup, NM_001098796.1:c.*301_*312dup, NM_001098798.2:c.*301_*312dup, NM_001098798.1:c.*301_*312dup, XM_017028109.2:c.*301_*312dup, XM_017028109.1:c.*301_*312dup, XM_047440561.1:c.*301_*312dup, XM_006723884.1:c.*301_*312dup, XM_047440560.1:c.*301_*312dup, XM_047440564.1:c.*301_*312dup, XM_047440565.1:c.*301_*312dup

Select item 14829724418.

rs1482972441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:44065727 (GRCh38)
20:42694367 (GRCh37)
Canonical SPDI:: NC_000020.11:44065726:G:A
Gene:: TOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.44065727G>A, NC_000020.10:g.42694367G>A, NM_032883.3:c.850G>A, NM_032883.2:c.850G>A, NM_001098797.2:c.976G>A, NM_001098797.1:c.976G>A, NM_001098796.2:c.850G>A, NM_001098796.1:c.850G>A, NM_001098798.2:c.922G>A, NM_001098798.1:c.922G>A, XM_047440561.1:c.850G>A, XM_006723884.1:c.1003G>A, XM_047440560.1:c.850G>A, XM_047440563.1:c.976G>A, XM_047440562.1:c.850G>A, NP_116272.1:p.Gly284Ser, NP_001092267.1:p.Gly326Ser, NP_001092266.1:p.Gly284Ser, NP_001092268.1:p.Gly308Ser, XP_047296517.1:p.Gly284Ser, XP_006723947.1:p.Gly335Ser, XP_047296516.1:p.Gly284Ser, XP_047296519.1:p.Gly326Ser, XP_047296518.1:p.Gly284Ser

Select item 14815364319.

rs1481536431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:44064785 (GRCh38)
20:42693425 (GRCh37)
Canonical SPDI:: NC_000020.11:44064784:G:C
Gene:: TOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.44064785G>C, NC_000020.10:g.42693425G>C, NM_032883.3:c.762G>C, NM_032883.2:c.762G>C, NM_001098797.2:c.888G>C, NM_001098797.1:c.888G>C, NM_001098796.2:c.762G>C, NM_001098796.1:c.762G>C, XM_047440561.1:c.762G>C, XM_006723884.1:c.915G>C, XM_047440560.1:c.762G>C, XM_047440563.1:c.888G>C, XM_047440562.1:c.762G>C, NP_116272.1:p.Lys254Asn, NP_001092267.1:p.Lys296Asn, NP_001092266.1:p.Lys254Asn, XP_047296517.1:p.Lys254Asn, XP_006723947.1:p.Lys305Asn, XP_047296516.1:p.Lys254Asn, XP_047296519.1:p.Lys296Asn, XP_047296518.1:p.Lys254Asn

Select item 147884925910.

rs1478849259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:44051492 (GRCh38)
20:42680132 (GRCh37)
Canonical SPDI:: NC_000020.11:44051491:A:G
Gene:: TOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.44051492A>G, NC_000020.10:g.42680132A>G, NM_032883.3:c.472A>G, NM_032883.2:c.472A>G, NM_001098797.2:c.598A>G, NM_001098797.1:c.598A>G, NM_001098796.2:c.472A>G, NM_001098796.1:c.472A>G, NM_001098798.2:c.625A>G, NM_001098798.1:c.625A>G, XM_017028109.2:c.472A>G, XM_017028109.1:c.472A>G, XM_047440561.1:c.472A>G, XM_006723884.1:c.625A>G, XM_047440560.1:c.472A>G, XM_047440564.1:c.625A>G, XM_047440565.1:c.598A>G, XM_047440563.1:c.598A>G, XM_047440562.1:c.472A>G, NP_116272.1:p.Thr158Ala, NP_001092267.1:p.Thr200Ala, NP_001092266.1:p.Thr158Ala, NP_001092268.1:p.Thr209Ala, XP_016883598.1:p.Thr158Ala, XP_047296517.1:p.Thr158Ala, XP_006723947.1:p.Thr209Ala, XP_047296516.1:p.Thr158Ala, XP_047296520.1:p.Thr209Ala, XP_047296521.1:p.Thr200Ala, XP_047296519.1:p.Thr200Ala, XP_047296518.1:p.Thr158Ala

Select item 147697454511.

rs1476974545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:44069212 (GRCh38)
20:42697852 (GRCh37)
Canonical SPDI:: NC_000020.11:44069211:G:T
Gene:: TOX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000020.11:g.44069212G>T, NC_000020.10:g.42697852G>T, NM_032883.3:c.*526G>T, NM_032883.2:c.*526G>T, NM_001098797.2:c.*526G>T, NM_001098797.1:c.*526G>T, NM_001098796.2:c.*526G>T, NM_001098796.1:c.*526G>T, NM_001098798.2:c.*526G>T, NM_001098798.1:c.*526G>T, XM_017028109.2:c.*526G>T, XM_017028109.1:c.*526G>T, XM_047440561.1:c.*526G>T, XM_006723884.1:c.*526G>T, XM_047440560.1:c.*526G>T, XM_047440564.1:c.*526G>T, XM_047440565.1:c.*526G>T

Select item 147596607112.

rs1475966071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:43945950 (GRCh38)
20:42574590 (GRCh37)
Canonical SPDI:: NC_000020.11:43945949:T:C
Gene:: TOX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000020.11:g.43945950T>C, NC_000020.10:g.42574590T>C, NM_001098798.2:c.38T>C, NM_001098798.1:c.38T>C, XM_006723884.1:c.38T>C, XM_047440564.1:c.38T>C, NP_001092268.1:p.Phe13Ser, XP_006723947.1:p.Phe13Ser, XP_047296520.1:p.Phe13Ser

Select item 147523898413.

rs1475238984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:44068840 (GRCh38)
20:42697480 (GRCh37)
Canonical SPDI:: NC_000020.11:44068839:C:G
Gene:: TOX2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.44068840C>G, NC_000020.10:g.42697480C>G, NM_032883.3:c.*154C>G, NM_032883.2:c.*154C>G, NM_001098797.2:c.*154C>G, NM_001098797.1:c.*154C>G, NM_001098796.2:c.*154C>G, NM_001098796.1:c.*154C>G, NM_001098798.2:c.*154C>G, NM_001098798.1:c.*154C>G, XM_017028109.2:c.*154C>G, XM_017028109.1:c.*154C>G, XM_047440561.1:c.*154C>G, XM_006723884.1:c.*154C>G, XM_047440560.1:c.*154C>G, XM_047440564.1:c.*154C>G, XM_047440565.1:c.*154C>G

Select item 147372992014.

rs1473729920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:44054358 (GRCh38)
20:42682998 (GRCh37)
Canonical SPDI:: NC_000020.11:44054357:G:A
Gene:: TOX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.44054358G>A, NC_000020.10:g.42682998G>A, NM_032883.3:c.585G>A, NM_032883.2:c.585G>A, NM_001098797.2:c.711G>A, NM_001098797.1:c.711G>A, NM_001098796.2:c.585G>A, NM_001098796.1:c.585G>A, NM_001098798.2:c.738G>A, NM_001098798.1:c.738G>A, XM_017028109.2:c.585G>A, XM_017028109.1:c.585G>A, XM_047440561.1:c.585G>A, XM_006723884.1:c.738G>A, XM_047440560.1:c.585G>A, XM_047440564.1:c.738G>A, XM_047440565.1:c.711G>A, XM_047440563.1:c.711G>A, XM_047440562.1:c.585G>A

Select item 147345141415.

rs1473451414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:44069581 (GRCh38)
20:42698221 (GRCh37)
Canonical SPDI:: NC_000020.11:44069580:A:G
Gene:: TOX2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00006/16 (TOPMED)
G=0.000071/10 (GnomAD)
HGVS:: NC_000020.11:g.44069581A>G, NC_000020.10:g.42698221A>G, NM_032883.3:c.*895A>G, NM_032883.2:c.*895A>G, NM_001098797.2:c.*895A>G, NM_001098797.1:c.*895A>G, NM_001098796.2:c.*895A>G, NM_001098796.1:c.*895A>G, NM_001098798.2:c.*895A>G, NM_001098798.1:c.*895A>G, XM_017028109.2:c.*895A>G, XM_017028109.1:c.*895A>G, XM_047440561.1:c.*895A>G, XM_006723884.1:c.*895A>G, XM_047440560.1:c.*895A>G, XM_047440564.1:c.*895A>G, XM_047440565.1:c.*895A>G

Select item 147264261516.

rs1472642615 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 20:44054303 (GRCh38)
20:42682943 (GRCh37)
Canonical SPDI:: NC_000020.11:44054302:C:
Gene:: TOX2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.44054303del, NC_000020.10:g.42682943del, NM_032883.3:c.530del, NM_032883.2:c.530del, NM_001098797.2:c.656del, NM_001098797.1:c.656del, NM_001098796.2:c.530del, NM_001098796.1:c.530del, NM_001098798.2:c.683del, NM_001098798.1:c.683del, XM_017028109.2:c.530del, XM_017028109.1:c.530del, XM_047440561.1:c.530del, XM_006723884.1:c.683del, XM_047440560.1:c.530del, XM_047440564.1:c.683del, XM_047440565.1:c.656del, XM_047440563.1:c.656del, XM_047440562.1:c.530del, NP_116272.1:p.Ser177fs, NP_001092267.1:p.Ser219fs, NP_001092266.1:p.Ser177fs, NP_001092268.1:p.Ser228fs, XP_016883598.1:p.Ser177fs, XP_047296517.1:p.Ser177fs, XP_006723947.1:p.Ser228fs, XP_047296516.1:p.Ser177fs, XP_047296520.1:p.Ser228fs, XP_047296521.1:p.Ser219fs, XP_047296519.1:p.Ser219fs, XP_047296518.1:p.Ser177fs

Select item 147226261217.

rs1472262612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:44069369 (GRCh38)
20:42698009 (GRCh37)
Canonical SPDI:: NC_000020.11:44069368:A:G
Gene:: TOX2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_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_000020.11:g.44069369A>G, NC_000020.10:g.42698009A>G, NM_032883.3:c.*683A>G, NM_032883.2:c.*683A>G, NM_001098797.2:c.*683A>G, NM_001098797.1:c.*683A>G, NM_001098796.2:c.*683A>G, NM_001098796.1:c.*683A>G, NM_001098798.2:c.*683A>G, NM_001098798.1:c.*683A>G, XM_017028109.2:c.*683A>G, XM_017028109.1:c.*683A>G, XM_047440561.1:c.*683A>G, XM_006723884.1:c.*683A>G, XM_047440560.1:c.*683A>G, XM_047440564.1:c.*683A>G, XM_047440565.1:c.*683A>G

Select item 147075296318.

rs1470752963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:43945912 (GRCh38)
20:42574552 (GRCh37)
Canonical SPDI:: NC_000020.11:43945911:T:C
Gene:: TOX2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
HGVS:: NC_000020.11:g.43945912T>C, NC_000020.10:g.42574552T>C, NM_001098798.2:c.-1T>C, NM_001098798.1:c.-1T>C, XM_006723884.1:c.-1T>C, XM_047440564.1:c.-1T>C

Select item 146758549719.

rs1467585497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:44065944 (GRCh38)
20:42694584 (GRCh37)
Canonical SPDI:: NC_000020.11:44065943:T:A
Gene:: TOX2 (Varview)
Functional Consequence:: intron_variant,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_000020.11:g.44065944T>A, NC_000020.10:g.42694584T>A, NM_032883.3:c.1067T>A, NM_032883.2:c.1067T>A, NM_001098797.2:c.1193T>A, NM_001098797.1:c.1193T>A, NM_001098796.2:c.1067T>A, NM_001098796.1:c.1067T>A, NM_001098798.2:c.1139T>A, NM_001098798.1:c.1139T>A, XM_047440561.1:c.1067T>A, XM_006723884.1:c.1220T>A, XM_047440560.1:c.1067T>A, NP_116272.1:p.Leu356His, NP_001092267.1:p.Leu398His, NP_001092266.1:p.Leu356His, NP_001092268.1:p.Leu380His, XP_047296517.1:p.Leu356His, XP_006723947.1:p.Leu407His, XP_047296516.1:p.Leu356His

Select item 146630807920.

rs1466308079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:44066016 (GRCh38)
20:42694656 (GRCh37)
Canonical SPDI:: NC_000020.11:44066015:G:T
Gene:: TOX2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.44066016G>T, NC_000020.10:g.42694656G>T, NM_032883.3:c.1139G>T, NM_032883.2:c.1139G>T, NM_001098797.2:c.1265G>T, NM_001098797.1:c.1265G>T, NM_001098796.2:c.1139G>T, NM_001098796.1:c.1139G>T, NM_001098798.2:c.1211G>T, NM_001098798.1:c.1211G>T, XM_047440561.1:c.1139G>T, XM_006723884.1:c.1292G>T, XM_047440560.1:c.1139G>T, NP_116272.1:p.Ser380Ile, NP_001092267.1:p.Ser422Ile, NP_001092266.1:p.Ser380Ile, NP_001092268.1:p.Ser404Ile, XP_047296517.1:p.Ser380Ile, XP_006723947.1:p.Ser431Ile, XP_047296516.1:p.Ser380Ile

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