SNP Links for Protein (Select 31563378) - SNP

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Links from Protein

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Select item 14806705111.

rs1480670511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:35279602 (GRCh38)
20:33867405 (GRCh37)
Canonical SPDI:: NC_000020.11:35279601:G:A
Gene:: EIF6 (Varview), MMP24OS (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.35279602G>A, NC_000020.10:g.33867405G>A, NG_023238.1:g.10190C>T, NM_002212.4:c.692C>T, NM_002212.3:c.692C>T, NM_181466.3:c.635C>T, NM_181466.2:c.635C>T, NM_181468.2:c.692C>T, NR_052023.2:n.737C>T, NR_052023.1:n.781C>T, NR_052022.2:n.568C>T, NR_052022.1:n.612C>T, NM_001267810.1:c.692C>T, NR_052024.1:n.456C>T, NM_181469.1:c.*189C>T, NM_181467.1:c.*189C>T, NP_002203.1:p.Thr231Ile, NP_852131.1:p.Thr212Ile, NP_852133.1:p.Thr231Ile, NP_001254739.1:p.Thr231Ile

Select item 14720698872.

rs1472069887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:35280820 (GRCh38)
20:33868623 (GRCh37)
Canonical SPDI:: NC_000020.11:35280819:T:C
Gene:: EIF6 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_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.35280820T>C, NC_000020.10:g.33868623T>C, NG_023238.1:g.8972A>G, NM_002212.4:c.203A>G, NM_002212.3:c.203A>G, NM_181468.2:c.203A>G, NR_052023.2:n.248A>G, NR_052023.1:n.292A>G, NM_001267810.1:c.203A>G, NP_002203.1:p.His68Arg, NP_852133.1:p.His68Arg, NP_001254739.1:p.His68Arg

Select item 14704574363.

rs1470457436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:35279738 (GRCh38)
20:33867541 (GRCh37)
Canonical SPDI:: NC_000020.11:35279737:C:T
Gene:: EIF6 (Varview), MMP24OS (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.35279738C>T, NC_000020.10:g.33867541C>T, NG_023238.1:g.10054G>A, NM_002212.4:c.556G>A, NM_002212.3:c.556G>A, NM_181466.3:c.499G>A, NM_181466.2:c.499G>A, NM_181468.2:c.556G>A, NR_052023.2:n.601G>A, NR_052023.1:n.645G>A, NR_052022.2:n.432G>A, NR_052022.1:n.476G>A, NM_001267810.1:c.556G>A, NR_052024.1:n.320G>A, NM_181469.1:c.*53G>A, NM_181467.1:c.*53G>A, NP_002203.1:p.Val186Met, NP_852131.1:p.Val167Met, NP_852133.1:p.Val186Met, NP_001254739.1:p.Val186Met

Select item 14656916284.

rs1465691628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:35284482 (GRCh38)
20:33872285 (GRCh37)
Canonical SPDI:: NC_000020.11:35284481:C:T
Gene:: EIF6 (Varview), FAM83C-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.35284482C>T, NC_000020.10:g.33872285C>T, NG_053068.1:g.12941G>A, NG_023238.1:g.5310G>A, NM_002212.4:c.6G>A, NM_002212.3:c.6G>A, NM_181466.3:c.6G>A, NM_181466.2:c.6G>A, NM_181468.2:c.6G>A, NR_052023.2:n.58G>A, NR_052023.1:n.102G>A, NR_052022.2:n.58G>A, NR_052022.1:n.102G>A, NM_001267810.1:c.6G>A, NR_052024.1:n.32G>A, NM_181469.1:c.6G>A, NM_181467.1:c.6G>A

Select item 14623809495.

rs1462380949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:35279704 (GRCh38)
20:33867507 (GRCh37)
Canonical SPDI:: NC_000020.11:35279703:A:G
Gene:: EIF6 (Varview), MMP24OS (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.35279704A>G, NC_000020.10:g.33867507A>G, NG_023238.1:g.10088T>C, NM_002212.4:c.590T>C, NM_002212.3:c.590T>C, NM_181466.3:c.533T>C, NM_181466.2:c.533T>C, NM_181468.2:c.590T>C, NR_052023.2:n.635T>C, NR_052023.1:n.679T>C, NR_052022.2:n.466T>C, NR_052022.1:n.510T>C, NM_001267810.1:c.590T>C, NR_052024.1:n.354T>C, NM_181469.1:c.*87T>C, NM_181467.1:c.*87T>C, NP_002203.1:p.Met197Thr, NP_852131.1:p.Met178Thr, NP_852133.1:p.Met197Thr, NP_001254739.1:p.Met197Thr

Select item 14612393736.

rs1461239373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:35280099 (GRCh38)
20:33867902 (GRCh37)
Canonical SPDI:: NC_000020.11:35280098:G:A
Gene:: EIF6 (Varview), MMP24OS (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.35280099G>A, NC_000020.10:g.33867902G>A, NG_023238.1:g.9693C>T, NM_002212.4:c.389C>T, NM_002212.3:c.389C>T, NM_181466.3:c.332C>T, NM_181466.2:c.332C>T, NM_181468.2:c.389C>T, NR_052023.2:n.434C>T, NR_052023.1:n.478C>T, NR_052022.2:n.265C>T, NR_052022.1:n.309C>T, NM_001267810.1:c.389C>T, NR_052024.1:n.153C>T, NM_181469.1:c.213C>T, NM_181467.1:c.213C>T, NP_002203.1:p.Ala130Val, NP_852131.1:p.Ala111Val, NP_852133.1:p.Ala130Val, NP_001254739.1:p.Ala130Val

Select item 14521710027.

rs1452171002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:35280789 (GRCh38)
20:33868592 (GRCh37)
Canonical SPDI:: NC_000020.11:35280788:G:A,NC_000020.11:35280788:G:T
Gene:: EIF6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.35280789G>A, NC_000020.11:g.35280789G>T, NC_000020.10:g.33868592G>A, NC_000020.10:g.33868592G>T, NG_023238.1:g.9003C>T, NG_023238.1:g.9003C>A, NM_002212.4:c.234C>T, NM_002212.4:c.234C>A, NM_002212.3:c.234C>T, NM_002212.3:c.234C>A, NM_181468.2:c.234C>T, NM_181468.2:c.234C>A, NR_052023.2:n.279C>T, NR_052023.2:n.279C>A, NR_052023.1:n.323C>T, NR_052023.1:n.323C>A, NM_001267810.1:c.234C>T, NM_001267810.1:c.234C>A, NP_002203.1:p.Asp78Glu, NP_852133.1:p.Asp78Glu, NP_001254739.1:p.Asp78Glu

Select item 14460311488.

rs1446031148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 20:35279619 (GRCh38)
20:33867422 (GRCh37)
Canonical SPDI:: NC_000020.11:35279618:A:C,NC_000020.11:35279618:A:G
Gene:: EIF6 (Varview), MMP24OS (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.35279619A>C, NC_000020.11:g.35279619A>G, NC_000020.10:g.33867422A>C, NC_000020.10:g.33867422A>G, NG_023238.1:g.10173T>G, NG_023238.1:g.10173T>C, NM_002212.4:c.675T>G, NM_002212.4:c.675T>C, NM_002212.3:c.675T>G, NM_002212.3:c.675T>C, NM_181466.3:c.618T>G, NM_181466.3:c.618T>C, NM_181466.2:c.618T>G, NM_181466.2:c.618T>C, NM_181468.2:c.675T>G, NM_181468.2:c.675T>C, NR_052023.2:n.720T>G, NR_052023.2:n.720T>C, NR_052023.1:n.764T>G, NR_052023.1:n.764T>C, NR_052022.2:n.551T>G, NR_052022.2:n.551T>C, NR_052022.1:n.595T>G, NR_052022.1:n.595T>C, NM_001267810.1:c.675T>G, NM_001267810.1:c.675T>C, NR_052024.1:n.439T>G, NR_052024.1:n.439T>C, NM_181469.1:c.*172T>G, NM_181469.1:c.*172T>C, NM_181467.1:c.*172T>G, NM_181467.1:c.*172T>C, NP_002203.1:p.Asn225Lys, NP_852131.1:p.Asn206Lys, NP_852133.1:p.Asn225Lys, NP_001254739.1:p.Asn225Lys

Select item 14440058459.

rs1444005845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:35279998 (GRCh38)
20:33867801 (GRCh37)
Canonical SPDI:: NC_000020.11:35279997:T:G
Gene:: EIF6 (Varview), MMP24OS (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.35279998T>G, NC_000020.10:g.33867801T>G, NG_023238.1:g.9794A>C, NM_002212.4:c.490A>C, NM_002212.3:c.490A>C, NM_181466.3:c.433A>C, NM_181466.2:c.433A>C, NM_181468.2:c.490A>C, NR_052023.2:n.535A>C, NR_052023.1:n.579A>C, NR_052022.2:n.366A>C, NR_052022.1:n.410A>C, NM_001267810.1:c.490A>C, NR_052024.1:n.254A>C, NM_181469.1:c.314A>C, NM_181467.1:c.314A>C, NP_002203.1:p.Lys164Gln, NP_852131.1:p.Lys145Gln, NP_852133.1:p.Lys164Gln, NP_001254739.1:p.Lys164Gln

Select item 144304740810.

rs1443047408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:35279731 (GRCh38)
20:33867534 (GRCh37)
Canonical SPDI:: NC_000020.11:35279730:C:T
Gene:: EIF6 (Varview), MMP24OS (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.35279731C>T, NC_000020.10:g.33867534C>T, NG_023238.1:g.10061G>A, NM_002212.4:c.563G>A, NM_002212.3:c.563G>A, NM_181466.3:c.506G>A, NM_181466.2:c.506G>A, NM_181468.2:c.563G>A, NR_052023.2:n.608G>A, NR_052023.1:n.652G>A, NR_052022.2:n.439G>A, NR_052022.1:n.483G>A, NM_001267810.1:c.563G>A, NR_052024.1:n.327G>A, NM_181469.1:c.*60G>A, NM_181467.1:c.*60G>A, NP_002203.1:p.Arg188Gln, NP_852131.1:p.Arg169Gln, NP_852133.1:p.Arg188Gln, NP_001254739.1:p.Arg188Gln

Select item 142299679111.

rs1422996791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:35279986 (GRCh38)
20:33867789 (GRCh37)
Canonical SPDI:: NC_000020.11:35279985:C:T
Gene:: EIF6 (Varview), MMP24OS (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.35279986C>T, NC_000020.10:g.33867789C>T, NG_023238.1:g.9806G>A, NM_002212.4:c.502G>A, NM_002212.3:c.502G>A, NM_181466.3:c.445G>A, NM_181466.2:c.445G>A, NM_181468.2:c.502G>A, NR_052023.2:n.547G>A, NR_052023.1:n.591G>A, NR_052022.2:n.378G>A, NR_052022.1:n.422G>A, NM_001267810.1:c.502G>A, NR_052024.1:n.266G>A, NM_181469.1:c.326G>A, NM_181467.1:c.326G>A, NP_002203.1:p.Glu168Lys, NP_852131.1:p.Glu149Lys, NP_852133.1:p.Glu168Lys, NP_001254739.1:p.Glu168Lys

Select item 142192838712.

rs1421928387 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:35280006 (GRCh38)
20:33867809 (GRCh37)
Canonical SPDI:: NC_000020.11:35280005:A:G
Gene:: EIF6 (Varview), MMP24OS (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.35280006A>G, NC_000020.10:g.33867809A>G, NG_023238.1:g.9786T>C, NM_002212.4:c.482T>C, NM_002212.3:c.482T>C, NM_181466.3:c.425T>C, NM_181466.2:c.425T>C, NM_181468.2:c.482T>C, NR_052023.2:n.527T>C, NR_052023.1:n.571T>C, NR_052022.2:n.358T>C, NR_052022.1:n.402T>C, NM_001267810.1:c.482T>C, NR_052024.1:n.246T>C, NM_181469.1:c.306T>C, NM_181467.1:c.306T>C, NP_002203.1:p.Val161Ala, NP_852131.1:p.Val142Ala, NP_852133.1:p.Val161Ala, NP_001254739.1:p.Val161Ala

Select item 142082322113.

rs1420823221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:35279722 (GRCh38)
20:33867525 (GRCh37)
Canonical SPDI:: NC_000020.11:35279721:T:A
Gene:: EIF6 (Varview), MMP24OS (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_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.35279722T>A, NC_000020.10:g.33867525T>A, NG_023238.1:g.10070A>T, NM_002212.4:c.572A>T, NM_002212.3:c.572A>T, NM_181466.3:c.515A>T, NM_181466.2:c.515A>T, NM_181468.2:c.572A>T, NR_052023.2:n.617A>T, NR_052023.1:n.661A>T, NR_052022.2:n.448A>T, NR_052022.1:n.492A>T, NM_001267810.1:c.572A>T, NR_052024.1:n.336A>T, NM_181469.1:c.*69A>T, NM_181467.1:c.*69A>T, NP_002203.1:p.Glu191Val, NP_852131.1:p.Glu172Val, NP_852133.1:p.Glu191Val, NP_001254739.1:p.Glu191Val

Select item 141471410814.

rs1414714108 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:35279657 (GRCh38)
20:33867460 (GRCh37)
Canonical SPDI:: NC_000020.11:35279656:T:C
Gene:: EIF6 (Varview), MMP24OS (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.35279657T>C, NC_000020.10:g.33867460T>C, NG_023238.1:g.10135A>G, NM_002212.4:c.637A>G, NM_002212.3:c.637A>G, NM_181466.3:c.580A>G, NM_181466.2:c.580A>G, NM_181468.2:c.637A>G, NR_052023.2:n.682A>G, NR_052023.1:n.726A>G, NR_052022.2:n.513A>G, NR_052022.1:n.557A>G, NM_001267810.1:c.637A>G, NR_052024.1:n.401A>G, NM_181469.1:c.*134A>G, NM_181467.1:c.*134A>G, NP_002203.1:p.Thr213Ala, NP_852131.1:p.Thr194Ala, NP_852133.1:p.Thr213Ala, NP_001254739.1:p.Thr213Ala

Select item 141364609215.

rs1413646092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:35280826 (GRCh38)
20:33868629 (GRCh37)
Canonical SPDI:: NC_000020.11:35280825:T:C
Gene:: EIF6 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.35280826T>C, NC_000020.10:g.33868629T>C, NG_023238.1:g.8966A>G, NM_002212.4:c.197A>G, NM_002212.3:c.197A>G, NM_181468.2:c.197A>G, NM_001267810.1:c.197A>G, NP_002203.1:p.Asn66Ser, NP_852133.1:p.Asn66Ser, NP_001254739.1:p.Asn66Ser

Select item 140852963216.

rs1408529632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:35279980 (GRCh38)
20:33867783 (GRCh37)
Canonical SPDI:: NC_000020.11:35279979:G:C
Gene:: EIF6 (Varview), MMP24OS (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.35279980G>C, NC_000020.10:g.33867783G>C, NG_023238.1:g.9812C>G, NM_002212.4:c.508C>G, NM_002212.3:c.508C>G, NM_181466.3:c.451C>G, NM_181466.2:c.451C>G, NM_181468.2:c.508C>G, NR_052023.2:n.553C>G, NR_052023.1:n.597C>G, NR_052022.2:n.384C>G, NR_052022.1:n.428C>G, NM_001267810.1:c.508C>G, NR_052024.1:n.272C>G, NM_181469.1:c.*5C>G, NM_181467.1:c.*5C>G, NP_002203.1:p.Gln170Glu, NP_852131.1:p.Gln151Glu, NP_852133.1:p.Gln170Glu, NP_001254739.1:p.Gln170Glu

Select item 140371645017.

rs1403716450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:35284254 (GRCh38)
20:33872057 (GRCh37)
Canonical SPDI:: NC_000020.11:35284253:C:G
Gene:: EIF6 (Varview), FAM83C-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000020.11:g.35284254C>G, NC_000020.10:g.33872057C>G, NG_053068.1:g.13169G>C, NG_023238.1:g.5538G>C, NM_002212.4:c.115G>C, NM_002212.3:c.115G>C, NM_181466.3:c.234G>C, NM_181466.2:c.234G>C, NM_181468.2:c.115G>C, NR_052023.2:n.167G>C, NR_052023.1:n.211G>C, NR_052022.2:n.167G>C, NR_052022.1:n.211G>C, NM_001267810.1:c.115G>C, NM_181469.1:c.115G>C, NM_181467.1:c.115G>C, NP_002203.1:p.Glu39Gln, NP_852133.1:p.Glu39Gln, NP_001254739.1:p.Glu39Gln

Select item 139723272218.

rs1397232722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:35279574 (GRCh38)
20:33867377 (GRCh37)
Canonical SPDI:: NC_000020.11:35279573:G:A
Gene:: EIF6 (Varview), MMP24OS (Varview), MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.35279574G>A, NC_000020.10:g.33867377G>A, NG_023238.1:g.10218C>T, NM_002212.4:c.720C>T, NM_002212.3:c.720C>T, NM_181466.3:c.663C>T, NM_181466.2:c.663C>T, NM_181468.2:c.720C>T, NR_052023.2:n.765C>T, NR_052023.1:n.809C>T, NR_052022.2:n.596C>T, NR_052022.1:n.640C>T, NM_001267810.1:c.720C>T, NR_052024.1:n.484C>T, NM_181469.1:c.*217C>T, NM_181467.1:c.*217C>T

Select item 139560478119.

rs1395604781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:35284189 (GRCh38)
20:33871992 (GRCh37)
Canonical SPDI:: NC_000020.11:35284188:C:T
Gene:: EIF6 (Varview), FAM83C-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000020.11:g.35284189C>T, NC_000020.10:g.33871992C>T, NG_053068.1:g.13234G>A, NG_023238.1:g.5603G>A, NM_002212.4:c.180G>A, NM_002212.3:c.180G>A, NM_181466.3:c.299G>A, NM_181466.2:c.299G>A, NM_181468.2:c.180G>A, NR_052023.2:n.232G>A, NR_052023.1:n.276G>A, NR_052022.2:n.232G>A, NR_052022.1:n.276G>A, NM_001267810.1:c.180G>A, NM_181469.1:c.180G>A, NM_181467.1:c.180G>A, NP_852131.1:p.Gly100Asp

Select item 138782028420.

rs1387820284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:35284229 (GRCh38)
20:33872032 (GRCh37)
Canonical SPDI:: NC_000020.11:35284228:G:C
Gene:: EIF6 (Varview), FAM83C-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.35284229G>C, NC_000020.10:g.33872032G>C, NG_053068.1:g.13194C>G, NG_023238.1:g.5563C>G, NM_002212.4:c.140C>G, NM_002212.3:c.140C>G, NM_181466.3:c.259C>G, NM_181466.2:c.259C>G, NM_181468.2:c.140C>G, NR_052023.2:n.192C>G, NR_052023.1:n.236C>G, NR_052022.2:n.192C>G, NR_052022.1:n.236C>G, NM_001267810.1:c.140C>G, NM_181469.1:c.140C>G, NM_181467.1:c.140C>G, NP_002203.1:p.Pro47Arg, NP_852131.1:p.Pro87Ala, NP_852133.1:p.Pro47Arg, NP_001254739.1:p.Pro47Arg

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