SNP Links for Protein (Select 767994563) - SNP

Links from Protein

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Select item 14904307091.

rs1490430709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:48597896 (GRCh38)
17:46675258 (GRCh37)
Canonical SPDI:: NC_000017.11:48597895:C:G,NC_000017.11:48597895:C:T
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.48597896C>G, NC_000017.11:g.48597896C>T, NC_000017.10:g.46675258C>G, NC_000017.10:g.46675258C>T, NG_046953.1:g.12097G>C, NG_046953.1:g.12097G>A, NM_018952.5:c.255G>C, NM_018952.5:c.255G>A, NM_018952.4:c.255G>C, NM_018952.4:c.255G>A, NM_001369397.2:c.255G>C, NM_001369397.2:c.255G>A, NM_001369397.1:c.255G>C, NM_001369397.1:c.255G>A, XM_011524727.4:c.447G>C, XM_011524727.4:c.447G>A, XM_011524727.3:c.447G>C, XM_011524727.3:c.447G>A, XM_011524727.2:c.447G>C, XM_011524727.2:c.447G>A, XM_011524727.1:c.447G>C, XM_011524727.1:c.447G>A, XM_047435908.1:c.255G>C, XM_047435908.1:c.255G>A, NM_156036.1:c.255G>C, NM_156036.1:c.255G>A, NM_156037.1:c.255G>C, NM_156037.1:c.255G>A, NP_061825.2:p.Glu85Asp, NP_001356326.1:p.Glu85Asp, XP_011523029.1:p.Glu149Asp, XP_047291864.1:p.Glu85Asp

Select item 14901168042.

rs1490116804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:48597944 (GRCh38)
17:46675306 (GRCh37)
Canonical SPDI:: NC_000017.11:48597943:C:G
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48597944C>G, NC_000017.10:g.46675306C>G, NG_046953.1:g.12049G>C, NM_018952.5:c.207G>C, NM_018952.4:c.207G>C, NM_001369397.2:c.207G>C, NM_001369397.1:c.207G>C, XM_011524727.4:c.399G>C, XM_011524727.3:c.399G>C, XM_011524727.2:c.399G>C, XM_011524727.1:c.399G>C, XM_047435908.1:c.207G>C, NM_156036.1:c.207G>C, NM_156037.1:c.207G>C

Select item 14862167673.

rs1486216767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:48598096 (GRCh38)
17:46675458 (GRCh37)
Canonical SPDI:: NC_000017.11:48598095:C:A,NC_000017.11:48598095:C:G,NC_000017.11:48598095:C:T
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48598096C>A, NC_000017.11:g.48598096C>G, NC_000017.11:g.48598096C>T, NC_000017.10:g.46675458C>A, NC_000017.10:g.46675458C>G, NC_000017.10:g.46675458C>T, NG_046953.1:g.11897G>T, NG_046953.1:g.11897G>C, NG_046953.1:g.11897G>A, NM_018952.5:c.55G>T, NM_018952.5:c.55G>C, NM_018952.5:c.55G>A, NM_018952.4:c.55G>T, NM_018952.4:c.55G>C, NM_018952.4:c.55G>A, NM_001369397.2:c.55G>T, NM_001369397.2:c.55G>C, NM_001369397.2:c.55G>A, NM_001369397.1:c.55G>T, NM_001369397.1:c.55G>C, NM_001369397.1:c.55G>A, XM_011524727.4:c.247G>T, XM_011524727.4:c.247G>C, XM_011524727.4:c.247G>A, XM_011524727.3:c.247G>T, XM_011524727.3:c.247G>C, XM_011524727.3:c.247G>A, XM_011524727.2:c.247G>T, XM_011524727.2:c.247G>C, XM_011524727.2:c.247G>A, XM_011524727.1:c.247G>T, XM_011524727.1:c.247G>C, XM_011524727.1:c.247G>A, XM_047435908.1:c.55G>T, XM_047435908.1:c.55G>C, XM_047435908.1:c.55G>A, NM_156036.1:c.55G>T, NM_156036.1:c.55G>C, NM_156036.1:c.55G>A, NM_156037.1:c.55G>T, NM_156037.1:c.55G>C, NM_156037.1:c.55G>A, NP_061825.2:p.Glu19Ter, NP_061825.2:p.Glu19Gln, NP_061825.2:p.Glu19Lys, NP_001356326.1:p.Glu19Ter, NP_001356326.1:p.Glu19Gln, NP_001356326.1:p.Glu19Lys, XP_011523029.1:p.Glu83Ter, XP_011523029.1:p.Glu83Gln, XP_011523029.1:p.Glu83Lys, XP_047291864.1:p.Glu19Ter, XP_047291864.1:p.Glu19Gln, XP_047291864.1:p.Glu19Lys

Select item 14861029474.

rs1486102947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:48597808 (GRCh38)
17:46675170 (GRCh37)
Canonical SPDI:: NC_000017.11:48597807:A:C,NC_000017.11:48597807:A:G
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.48597808A>C, NC_000017.11:g.48597808A>G, NC_000017.10:g.46675170A>C, NC_000017.10:g.46675170A>G, NG_046953.1:g.12185T>G, NG_046953.1:g.12185T>C, NM_018952.5:c.343T>G, NM_018952.5:c.343T>C, NM_018952.4:c.343T>G, NM_018952.4:c.343T>C, NM_001369397.2:c.343T>G, NM_001369397.2:c.343T>C, NM_001369397.1:c.343T>G, NM_001369397.1:c.343T>C, XM_011524727.4:c.535T>G, XM_011524727.4:c.535T>C, XM_011524727.3:c.535T>G, XM_011524727.3:c.535T>C, XM_011524727.2:c.535T>G, XM_011524727.2:c.535T>C, XM_011524727.1:c.535T>G, XM_011524727.1:c.535T>C, XM_047435908.1:c.343T>G, XM_047435908.1:c.343T>C, NM_156036.1:c.343T>G, NM_156036.1:c.343T>C, NM_156037.1:c.343T>G, NM_156037.1:c.343T>C, NP_061825.2:p.Phe115Val, NP_061825.2:p.Phe115Leu, NP_001356326.1:p.Phe115Val, NP_001356326.1:p.Phe115Leu, XP_011523029.1:p.Phe179Val, XP_011523029.1:p.Phe179Leu, XP_047291864.1:p.Phe115Val, XP_047291864.1:p.Phe115Leu

Select item 14844398305.

rs1484439830 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48603729 (GRCh38)
17:46681091 (GRCh37)
Canonical SPDI:: NC_000017.11:48603728:A:G
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.48603729A>G, NC_000017.10:g.46681091A>G, NG_046953.1:g.6264T>C, XM_011524727.4:c.100T>C, XM_011524727.3:c.100T>C, XM_011524727.2:c.100T>C, XM_011524727.1:c.100T>C, XP_011523029.1:p.Cys34Arg

Select item 14842212836.

rs1484221283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:48597754 (GRCh38)
17:46675116 (GRCh37)
Canonical SPDI:: NC_000017.11:48597753:G:T
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.48597754G>T, NC_000017.10:g.46675116G>T, NG_046953.1:g.12239C>A, NM_018952.5:c.397C>A, NM_018952.4:c.397C>A, NM_001369397.2:c.397C>A, NM_001369397.1:c.397C>A, XM_011524727.4:c.589C>A, XM_011524727.3:c.589C>A, XM_011524727.2:c.589C>A, XM_011524727.1:c.589C>A, XM_047435908.1:c.397C>A, NM_156036.1:c.397C>A, NM_156037.1:c.397C>A

Select item 14837922647.

rs1483792264 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48597810 (GRCh38)
17:46675172 (GRCh37)
Canonical SPDI:: NC_000017.11:48597809:A:G
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.48597810A>G, NC_000017.10:g.46675172A>G, NG_046953.1:g.12183T>C, NM_018952.5:c.341T>C, NM_018952.4:c.341T>C, NM_001369397.2:c.341T>C, NM_001369397.1:c.341T>C, XM_011524727.4:c.533T>C, XM_011524727.3:c.533T>C, XM_011524727.2:c.533T>C, XM_011524727.1:c.533T>C, XM_047435908.1:c.341T>C, NM_156036.1:c.341T>C, NM_156037.1:c.341T>C, NP_061825.2:p.Val114Ala, NP_001356326.1:p.Val114Ala, XP_011523029.1:p.Val178Ala, XP_047291864.1:p.Val114Ala

Select item 14809524728.

rs1480952472 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48598142 (GRCh38)
17:46675504 (GRCh37)
Canonical SPDI:: NC_000017.11:48598141:G:A
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_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_000017.11:g.48598142G>A, NC_000017.10:g.46675504G>A, NG_046953.1:g.11851C>T, NM_018952.5:c.9C>T, NM_018952.4:c.9C>T, NM_001369397.2:c.9C>T, NM_001369397.1:c.9C>T, XM_011524727.4:c.201C>T, XM_011524727.3:c.201C>T, XM_011524727.2:c.201C>T, XM_011524727.1:c.201C>T, XM_047435908.1:c.9C>T, NM_156036.1:c.9C>T, NM_156037.1:c.9C>T

Select item 14796442299.

rs1479644229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:48596672 (GRCh38)
17:46674034 (GRCh37)
Canonical SPDI:: NC_000017.11:48596671:C:A
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.48596672C>A, NC_000017.10:g.46674034C>A, NG_046953.1:g.13321G>T, NM_018952.5:c.416G>T, NM_018952.4:c.416G>T, NM_001369397.2:c.416G>T, NM_001369397.1:c.416G>T, XM_011524727.4:c.608G>T, XM_011524727.3:c.608G>T, XM_011524727.2:c.608G>T, XM_011524727.1:c.608G>T, XM_047435908.1:c.416G>T, NM_156036.1:c.*1056G>T, NM_156037.1:c.416G>T, NP_061825.2:p.Ser139Ile, NP_001356326.1:p.Ser139Ile, XP_011523029.1:p.Ser203Ile, XP_047291864.1:p.Ser139Ile

Select item 147377409510.

rs1473774095 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:48596491 (GRCh38)
17:46673853 (GRCh37)
Canonical SPDI:: NC_000017.11:48596490:C:
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48596491del, NC_000017.10:g.46673853del, NG_046953.1:g.13502del, NM_018952.5:c.597del, NM_018952.4:c.597del, NM_001369397.2:c.597del, NM_001369397.1:c.597del, XM_011524727.4:c.789del, XM_011524727.3:c.789del, XM_011524727.2:c.789del, XM_011524727.1:c.789del, XM_047435908.1:c.597del, NM_156036.1:c.*1237del, NM_156037.1:c.597del, NP_061825.2:p.Met199fs, NP_001356326.1:p.Met199fs, XP_011523029.1:p.Met263fs, XP_047291864.1:p.Met199fs

Select item 146858870811.

rs1468588708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48596613 (GRCh38)
17:46673975 (GRCh37)
Canonical SPDI:: NC_000017.11:48596612:G:A
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.48596613G>A, NC_000017.10:g.46673975G>A, NG_046953.1:g.13380C>T, NM_018952.5:c.475C>T, NM_018952.4:c.475C>T, NM_001369397.2:c.475C>T, NM_001369397.1:c.475C>T, XM_011524727.4:c.667C>T, XM_011524727.3:c.667C>T, XM_011524727.2:c.667C>T, XM_011524727.1:c.667C>T, XM_047435908.1:c.475C>T, NM_156036.1:c.*1115C>T, NM_156037.1:c.475C>T

Select item 146173473312.

rs1461734733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48596602 (GRCh38)
17:46673964 (GRCh37)
Canonical SPDI:: NC_000017.11:48596601:C:T
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.48596602C>T, NC_000017.10:g.46673964C>T, NG_046953.1:g.13391G>A, NM_018952.5:c.486G>A, NM_018952.4:c.486G>A, NM_001369397.2:c.486G>A, NM_001369397.1:c.486G>A, XM_011524727.4:c.678G>A, XM_011524727.3:c.678G>A, XM_011524727.2:c.678G>A, XM_011524727.1:c.678G>A, XM_047435908.1:c.486G>A, NM_156036.1:c.*1126G>A, NM_156037.1:c.486G>A

Select item 146131269713.

rs1461312697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:48597848 (GRCh38)
17:46675210 (GRCh37)
Canonical SPDI:: NC_000017.11:48597847:G:A,NC_000017.11:48597847:G:T
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.48597848G>A, NC_000017.11:g.48597848G>T, NC_000017.10:g.46675210G>A, NC_000017.10:g.46675210G>T, NG_046953.1:g.12145C>T, NG_046953.1:g.12145C>A, NM_018952.5:c.303C>T, NM_018952.5:c.303C>A, NM_018952.4:c.303C>T, NM_018952.4:c.303C>A, NM_001369397.2:c.303C>T, NM_001369397.2:c.303C>A, NM_001369397.1:c.303C>T, NM_001369397.1:c.303C>A, XM_011524727.4:c.495C>T, XM_011524727.4:c.495C>A, XM_011524727.3:c.495C>T, XM_011524727.3:c.495C>A, XM_011524727.2:c.495C>T, XM_011524727.2:c.495C>A, XM_011524727.1:c.495C>T, XM_011524727.1:c.495C>A, XM_047435908.1:c.303C>T, XM_047435908.1:c.303C>A, NM_156036.1:c.303C>T, NM_156036.1:c.303C>A, NM_156037.1:c.303C>T, NM_156037.1:c.303C>A

Select item 146129348514.

rs1461293485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48597885 (GRCh38)
17:46675247 (GRCh37)
Canonical SPDI:: NC_000017.11:48597884:G:A
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48597885G>A, NC_000017.10:g.46675247G>A, NG_046953.1:g.12108C>T, NM_018952.5:c.266C>T, NM_018952.4:c.266C>T, NM_001369397.2:c.266C>T, NM_001369397.1:c.266C>T, XM_011524727.4:c.458C>T, XM_011524727.3:c.458C>T, XM_011524727.2:c.458C>T, XM_011524727.1:c.458C>T, XM_047435908.1:c.266C>T, NM_156036.1:c.266C>T, NM_156037.1:c.266C>T, NP_061825.2:p.Ala89Val, NP_001356326.1:p.Ala89Val, XP_011523029.1:p.Ala153Val, XP_047291864.1:p.Ala89Val

Select item 145383533315.

rs1453835333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48598123 (GRCh38)
17:46675485 (GRCh37)
Canonical SPDI:: NC_000017.11:48598122:A:G
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.48598123A>G, NC_000017.10:g.46675485A>G, NG_046953.1:g.11870T>C, NM_018952.5:c.28T>C, NM_018952.4:c.28T>C, NM_001369397.2:c.28T>C, NM_001369397.1:c.28T>C, XM_011524727.4:c.220T>C, XM_011524727.3:c.220T>C, XM_011524727.2:c.220T>C, XM_011524727.1:c.220T>C, XM_047435908.1:c.28T>C, NM_156036.1:c.28T>C, NM_156037.1:c.28T>C, NP_061825.2:p.Phe10Leu, NP_001356326.1:p.Phe10Leu, XP_011523029.1:p.Phe74Leu, XP_047291864.1:p.Phe10Leu

Select item 145093631916.

rs1450936319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48597899 (GRCh38)
17:46675261 (GRCh37)
Canonical SPDI:: NC_000017.11:48597898:T:C
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48597899T>C, NC_000017.10:g.46675261T>C, NG_046953.1:g.12094A>G, NM_018952.5:c.252A>G, NM_018952.4:c.252A>G, NM_001369397.2:c.252A>G, NM_001369397.1:c.252A>G, XM_011524727.4:c.444A>G, XM_011524727.3:c.444A>G, XM_011524727.2:c.444A>G, XM_011524727.1:c.444A>G, XM_047435908.1:c.252A>G, NM_156036.1:c.252A>G, NM_156037.1:c.252A>G

Select item 145012813217.

rs1450128132 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48596588 (GRCh38)
17:46673950 (GRCh37)
Canonical SPDI:: NC_000017.11:48596587:T:C
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.48596588T>C, NC_000017.10:g.46673950T>C, NG_046953.1:g.13405A>G, NM_018952.5:c.500A>G, NM_018952.4:c.500A>G, NM_001369397.2:c.500A>G, NM_001369397.1:c.500A>G, XM_011524727.4:c.692A>G, XM_011524727.3:c.692A>G, XM_011524727.2:c.692A>G, XM_011524727.1:c.692A>G, XM_047435908.1:c.500A>G, NM_156036.1:c.*1140A>G, NM_156037.1:c.500A>G, NP_061825.2:p.Tyr167Cys, NP_001356326.1:p.Tyr167Cys, XP_011523029.1:p.Tyr231Cys, XP_047291864.1:p.Tyr167Cys

Select item 144670821718.

rs1446708217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48598103 (GRCh38)
17:46675465 (GRCh37)
Canonical SPDI:: NC_000017.11:48598102:G:A
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
HGVS:: NC_000017.11:g.48598103G>A, NC_000017.10:g.46675465G>A, NG_046953.1:g.11890C>T, NM_018952.5:c.48C>T, NM_018952.4:c.48C>T, NM_001369397.2:c.48C>T, NM_001369397.1:c.48C>T, XM_011524727.4:c.240C>T, XM_011524727.3:c.240C>T, XM_011524727.2:c.240C>T, XM_011524727.1:c.240C>T, XM_047435908.1:c.48C>T, NM_156036.1:c.48C>T, NM_156037.1:c.48C>T

Select item 144649578119.

rs1446495781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:48597987 (GRCh38)
17:46675349 (GRCh37)
Canonical SPDI:: NC_000017.11:48597986:G:T
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.48597987G>T, NC_000017.10:g.46675349G>T, NG_046953.1:g.12006C>A, NM_018952.5:c.164C>A, NM_018952.4:c.164C>A, NM_001369397.2:c.164C>A, NM_001369397.1:c.164C>A, XM_011524727.4:c.356C>A, XM_011524727.3:c.356C>A, XM_011524727.2:c.356C>A, XM_011524727.1:c.356C>A, XM_047435908.1:c.164C>A, NM_156036.1:c.164C>A, NM_156037.1:c.164C>A, NP_061825.2:p.Thr55Asn, NP_001356326.1:p.Thr55Asn, XP_011523029.1:p.Thr119Asn, XP_047291864.1:p.Thr55Asn

Select item 144638343720.

rs1446383437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:48596531 (GRCh38)
17:46673893 (GRCh37)
Canonical SPDI:: NC_000017.11:48596530:G:A,NC_000017.11:48596530:G:T
Gene:: HOXB6 (Varview), HOXB-AS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.48596531G>A, NC_000017.11:g.48596531G>T, NC_000017.10:g.46673893G>A, NC_000017.10:g.46673893G>T, NG_046953.1:g.13462C>T, NG_046953.1:g.13462C>A, NM_018952.5:c.557C>T, NM_018952.5:c.557C>A, NM_018952.4:c.557C>T, NM_018952.4:c.557C>A, NM_001369397.2:c.557C>T, NM_001369397.2:c.557C>A, NM_001369397.1:c.557C>T, NM_001369397.1:c.557C>A, XM_011524727.4:c.749C>T, XM_011524727.4:c.749C>A, XM_011524727.3:c.749C>T, XM_011524727.3:c.749C>A, XM_011524727.2:c.749C>T, XM_011524727.2:c.749C>A, XM_011524727.1:c.749C>T, XM_011524727.1:c.749C>A, XM_047435908.1:c.557C>T, XM_047435908.1:c.557C>A, NM_156036.1:c.*1197C>T, NM_156036.1:c.*1197C>A, NM_156037.1:c.557C>T, NM_156037.1:c.557C>A, NP_061825.2:p.Thr186Met, NP_061825.2:p.Thr186Lys, NP_001356326.1:p.Thr186Met, NP_001356326.1:p.Thr186Lys, XP_011523029.1:p.Thr250Met, XP_011523029.1:p.Thr250Lys, XP_047291864.1:p.Thr186Met, XP_047291864.1:p.Thr186Lys

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