SNP Links for Protein (Select 61969662) - SNP

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Links from Protein

Items: 1 to 20 of 226

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Select item 14844793741.

rs1484479374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57154444 (GRCh38)
19:57665812 (GRCh37)
Canonical SPDI:: NC_000019.10:57154443:C:T
Gene:: DUXA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57154444C>T, NC_000019.9:g.57665812C>T, NM_001012729.2:c.583G>A, NM_001012729.1:c.583G>A, NP_001012747.1:p.Asp195Asn

Select item 14754764542.

rs1475476454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:57158387 (GRCh38)
19:57669755 (GRCh37)
Canonical SPDI:: NC_000019.10:57158386:C:G,NC_000019.10:57158386:C:T
Gene:: DUXA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57158387C>G, NC_000019.10:g.57158387C>T, NC_000019.9:g.57669755C>G, NC_000019.9:g.57669755C>T, NM_001012729.2:c.379G>C, NM_001012729.2:c.379G>A, NM_001012729.1:c.379G>C, NM_001012729.1:c.379G>A, NP_001012747.1:p.Gly127Arg, NP_001012747.1:p.Gly127Arg

Select item 14746783043.

rs1474678304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57154425 (GRCh38)
19:57665793 (GRCh37)
Canonical SPDI:: NC_000019.10:57154424:G:A
Gene:: DUXA (Varview)
Functional Consequence:: 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_000019.10:g.57154425G>A, NC_000019.9:g.57665793G>A, NM_001012729.2:c.602C>T, NM_001012729.1:c.602C>T, NP_001012747.1:p.Ala201Val

Select item 14709438624.

rs1470943862 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:57155352 (GRCh38)
19:57666720 (GRCh37)
Canonical SPDI:: NC_000019.10:57155351:T:
Gene:: DUXA (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57155352del, NC_000019.9:g.57666720del, NM_001012729.2:c.459del, NM_001012729.1:c.459del, NP_001012747.1:p.Arg153fs

Select item 14642632595.

rs1464263259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57160710 (GRCh38)
19:57672078 (GRCh37)
Canonical SPDI:: NC_000019.10:57160709:G:A
Gene:: DUXA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.57160710G>A, NC_000019.9:g.57672078G>A, NM_001012729.2:c.113C>T, NM_001012729.1:c.113C>T, NP_001012747.1:p.Pro38Leu

Select item 14631202976.

rs1463120297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:57159185 (GRCh38)
19:57670553 (GRCh37)
Canonical SPDI:: NC_000019.10:57159184:G:T
Gene:: DUXA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57159185G>T, NC_000019.9:g.57670553G>T, NM_001012729.2:c.274C>A, NM_001012729.1:c.274C>A, NP_001012747.1:p.Pro92Thr

Select item 14548566407.

rs1454856640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:57160779 (GRCh38)
19:57672147 (GRCh37)
Canonical SPDI:: NC_000019.10:57160778:T:C,NC_000019.10:57160778:T:G
Gene:: DUXA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57160779T>C, NC_000019.10:g.57160779T>G, NC_000019.9:g.57672147T>C, NC_000019.9:g.57672147T>G, NM_001012729.2:c.44A>G, NM_001012729.2:c.44A>C, NM_001012729.1:c.44A>G, NM_001012729.1:c.44A>C, NP_001012747.1:p.His15Arg, NP_001012747.1:p.His15Pro

Select item 14519239238.

rs1451923923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:57160760 (GRCh38)
19:57672128 (GRCh37)
Canonical SPDI:: NC_000019.10:57160759:T:G
Gene:: DUXA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57160760T>G, NC_000019.9:g.57672128T>G, NM_001012729.2:c.63A>C, NM_001012729.1:c.63A>C, NP_001012747.1:p.Lys21Asn

Select item 14440539109.

rs1444053910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:57158361 (GRCh38)
19:57669729 (GRCh37)
Canonical SPDI:: NC_000019.10:57158360:A:T
Gene:: DUXA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57158361A>T, NC_000019.9:g.57669729A>T, NM_001012729.2:c.405T>A, NM_001012729.1:c.405T>A

Select item 144115567310.

rs1441155673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57160692 (GRCh38)
19:57672060 (GRCh37)
Canonical SPDI:: NC_000019.10:57160691:G:A
Gene:: DUXA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.57160692G>A, NC_000019.9:g.57672060G>A, NM_001012729.2:c.131C>T, NM_001012729.1:c.131C>T, NP_001012747.1:p.Thr44Ile

Select item 143925259611.

rs1439252596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:57158449 (GRCh38)
19:57669817 (GRCh37)
Canonical SPDI:: NC_000019.10:57158448:G:A,NC_000019.10:57158448:G:C
Gene:: DUXA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57158449G>A, NC_000019.10:g.57158449G>C, NC_000019.9:g.57669817G>A, NC_000019.9:g.57669817G>C, NM_001012729.2:c.317C>T, NM_001012729.2:c.317C>G, NM_001012729.1:c.317C>T, NM_001012729.1:c.317C>G, NP_001012747.1:p.Thr106Ile, NP_001012747.1:p.Thr106Ser

Select item 143830650412.

rs1438306504 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 19:57159190 (GRCh38)
19:57670558 (GRCh37)
Canonical SPDI:: NC_000019.10:57159189:T:A,NC_000019.10:57159189:T:G
Gene:: DUXA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57159190T>A, NC_000019.10:g.57159190T>G, NC_000019.9:g.57670558T>A, NC_000019.9:g.57670558T>G, NM_001012729.2:c.269A>T, NM_001012729.2:c.269A>C, NM_001012729.1:c.269A>T, NM_001012729.1:c.269A>C, NP_001012747.1:p.Asp90Val, NP_001012747.1:p.Asp90Ala

Select item 143247808613.

rs1432478086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:57160745 (GRCh38)
19:57672113 (GRCh37)
Canonical SPDI:: NC_000019.10:57160744:C:G
Gene:: DUXA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57160745C>G, NC_000019.9:g.57672113C>G, NM_001012729.2:c.78G>C, NM_001012729.1:c.78G>C, NP_001012747.1:p.Gln26His

Select item 143063852914.

rs1430638529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:57154454 (GRCh38)
19:57665822 (GRCh37)
Canonical SPDI:: NC_000019.10:57154453:G:A,NC_000019.10:57154453:G:T
Gene:: DUXA (Varview)
Functional Consequence:: synonymous_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_000019.10:g.57154454G>A, NC_000019.10:g.57154454G>T, NC_000019.9:g.57665822G>A, NC_000019.9:g.57665822G>T, NM_001012729.2:c.573C>T, NM_001012729.2:c.573C>A, NM_001012729.1:c.573C>T, NM_001012729.1:c.573C>A, NP_001012747.1:p.Asn191Lys

Select item 141986023515.

rs1419860235 has merged into rs751250269 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAG [Show Flanks]
Chromosome:: 19:57158421 (GRCh38)
19:57669789 (GRCh37)
Canonical SPDI:: NC_000019.10:57158417:GAGAG:GAG,NC_000019.10:57158417:GAGAG:GAGAGAG
Gene:: DUXA (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAG=0./0 (ALFA)
GA=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
GA=0.000008/1 (ExAC)
HGVS:: NC_000019.10:g.57158419AG[1], NC_000019.10:g.57158419AG[3], NC_000019.9:g.57669787AG[1], NC_000019.9:g.57669787AG[3], NM_001012729.2:c.347_348del, NM_001012729.2:c.347_348dup, NM_001012729.1:c.347_348del, NM_001012729.1:c.347_348dup, NP_001012747.1:p.Leu116fs, NP_001012747.1:p.Ile117fs

Select item 141915738816.

rs1419157388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57155304 (GRCh38)
19:57666672 (GRCh37)
Canonical SPDI:: NC_000019.10:57155303:T:C
Gene:: DUXA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57155304T>C, NC_000019.9:g.57666672T>C, NM_001012729.2:c.507A>G, NM_001012729.1:c.507A>G

Select item 141912473817.

rs1419124738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57158416 (GRCh38)
19:57669784 (GRCh37)
Canonical SPDI:: NC_000019.10:57158415:A:G
Gene:: DUXA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57158416A>G, NC_000019.9:g.57669784A>G, NM_001012729.2:c.350T>C, NM_001012729.1:c.350T>C, NP_001012747.1:p.Ile117Thr

Select item 141484312618.

rs1414843126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57160652 (GRCh38)
19:57672020 (GRCh37)
Canonical SPDI:: NC_000019.10:57160651:G:A
Gene:: DUXA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.57160652G>A, NC_000019.9:g.57672020G>A, NM_001012729.2:c.171C>T, NM_001012729.1:c.171C>T

Select item 141410578019.

rs1414105780 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:57160713 (GRCh38)
19:57672081 (GRCh37)
Canonical SPDI:: NC_000019.10:57160712:T:A,NC_000019.10:57160712:T:C
Gene:: DUXA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.57160713T>A, NC_000019.10:g.57160713T>C, NC_000019.9:g.57672081T>A, NC_000019.9:g.57672081T>C, NM_001012729.2:c.110A>T, NM_001012729.2:c.110A>G, NM_001012729.1:c.110A>T, NM_001012729.1:c.110A>G, NP_001012747.1:p.Lys37Met, NP_001012747.1:p.Lys37Arg

Select item 141263848720.

rs1412638487 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57160741 (GRCh38)
19:57672109 (GRCh37)
Canonical SPDI:: NC_000019.10:57160740:T:C
Gene:: DUXA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57160741T>C, NC_000019.9:g.57672109T>C, NM_001012729.2:c.82A>G, NM_001012729.1:c.82A>G, NP_001012747.1:p.Lys28Glu

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