SNP Links for Protein (Select 28872796) - SNP

Links from Protein

Items: 1 to 20 of 402

<< First< Prev

Page of 21

Next >Last >>

Select item 14904528511.

rs1490452851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50191167 (GRCh38)
20:48807704 (GRCh37)
Canonical SPDI:: NC_000020.11:50191166:C:T
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50191167C>T, NC_000020.10:g.48807704C>T, NG_029019.1:g.5329C>T, NM_005194.4:c.134C>T, NM_005194.3:c.134C>T, NM_001285879.1:c.-461C>T, NM_001285878.1:c.65C>T, NP_005185.2:p.Ala45Val, NP_001272807.1:p.Ala22Val

Select item 14901638832.

rs1490163883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:50191772 (GRCh38)
20:48808309 (GRCh37)
Canonical SPDI:: NC_000020.11:50191771:G:A,NC_000020.11:50191771:G:T
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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.50191772G>A, NC_000020.11:g.50191772G>T, NC_000020.10:g.48808309G>A, NC_000020.10:g.48808309G>T, NG_029019.1:g.5934G>A, NG_029019.1:g.5934G>T, NM_005194.4:c.739G>A, NM_005194.4:c.739G>T, NM_005194.3:c.739G>A, NM_005194.3:c.739G>T, NM_001285879.1:c.145G>A, NM_001285879.1:c.145G>T, NM_001285878.1:c.670G>A, NM_001285878.1:c.670G>T, NR_125739.1:n.298C>T, NR_125739.1:n.298C>A, NP_005185.2:p.Ala247Thr, NP_005185.2:p.Ala247Ser, NP_001272808.1:p.Ala49Thr, NP_001272808.1:p.Ala49Ser, NP_001272807.1:p.Ala224Thr, NP_001272807.1:p.Ala224Ser

Select item 14871640823.

rs1487164082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 20:50191409 (GRCh38)
20:48807946 (GRCh37)
Canonical SPDI:: NC_000020.11:50191408:T:A,NC_000020.11:50191408:T:G
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50191409T>A, NC_000020.11:g.50191409T>G, NC_000020.10:g.48807946T>A, NC_000020.10:g.48807946T>G, NG_029019.1:g.5571T>A, NG_029019.1:g.5571T>G, NM_005194.4:c.376T>A, NM_005194.4:c.376T>G, NM_005194.3:c.376T>A, NM_005194.3:c.376T>G, NM_001285879.1:c.-219T>A, NM_001285879.1:c.-219T>G, NM_001285878.1:c.307T>A, NM_001285878.1:c.307T>G, NR_125739.1:n.420A>T, NR_125739.1:n.420A>C, NP_005185.2:p.Tyr126Asn, NP_005185.2:p.Tyr126Asp, NP_001272807.1:p.Tyr103Asn, NP_001272807.1:p.Tyr103Asp

Select item 14866544644.

rs1486654464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:50191410 (GRCh38)
20:48807947 (GRCh37)
Canonical SPDI:: NC_000020.11:50191409:A:G
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_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.50191410A>G, NC_000020.10:g.48807947A>G, NG_029019.1:g.5572A>G, NM_005194.4:c.377A>G, NM_005194.3:c.377A>G, NM_001285879.1:c.-218A>G, NM_001285878.1:c.308A>G, NR_125739.1:n.419T>C, NP_005185.2:p.Tyr126Cys, NP_001272807.1:p.Tyr103Cys

Select item 14814720415.

rs1481472041 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 20:50191222 (GRCh38)
20:48807759 (GRCh37)
Canonical SPDI:: NC_000020.11:50191221:GGG:GG
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,frameshift_variant
HGVS:: NC_000020.11:g.50191224del, NC_000020.10:g.48807761del, NG_029019.1:g.5386del, NM_005194.4:c.191del, NM_005194.3:c.191del, NM_001285879.1:c.-404del, NM_001285878.1:c.122del, NP_005185.2:p.Gly64fs, NP_001272807.1:p.Gly41fs

Select item 14799613556.

rs1479961355 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50191719 (GRCh38)
20:48808256 (GRCh37)
Canonical SPDI:: NC_000020.11:50191718:C:T
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.50191719C>T, NC_000020.10:g.48808256C>T, NG_029019.1:g.5881C>T, NM_005194.4:c.686C>T, NM_005194.3:c.686C>T, NM_001285879.1:c.92C>T, NM_001285878.1:c.617C>T, NR_125739.1:n.351G>A, NP_005185.2:p.Ser229Leu, NP_001272808.1:p.Ser31Leu, NP_001272807.1:p.Ser206Leu

Select item 14796352987.

rs1479635298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:50191414 (GRCh38)
20:48807951 (GRCh37)
Canonical SPDI:: NC_000020.11:50191413:G:A,NC_000020.11:50191413:G:C
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD_exomes)
C=0.000022/3 (GnomAD)
HGVS:: NC_000020.11:g.50191414G>A, NC_000020.11:g.50191414G>C, NC_000020.10:g.48807951G>A, NC_000020.10:g.48807951G>C, NG_029019.1:g.5576G>A, NG_029019.1:g.5576G>C, NM_005194.4:c.381G>A, NM_005194.4:c.381G>C, NM_005194.3:c.381G>A, NM_005194.3:c.381G>C, NM_001285879.1:c.-214G>A, NM_001285879.1:c.-214G>C, NM_001285878.1:c.312G>A, NM_001285878.1:c.312G>C, NR_125739.1:n.415C>T, NR_125739.1:n.415C>G

Select item 14789741808.

rs1478974180 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:50192006 (GRCh38)
20:48808543 (GRCh37)
Canonical SPDI:: NC_000020.11:50192005:A:G
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50192006A>G, NC_000020.10:g.48808543A>G, NG_029019.1:g.6168A>G, NM_005194.4:c.973A>G, NM_005194.3:c.973A>G, NM_001285879.1:c.379A>G, NM_001285878.1:c.904A>G, NR_125739.1:n.64T>C, NP_005185.2:p.Ser325Gly, NP_001272808.1:p.Ser127Gly, NP_001272807.1:p.Ser302Gly

Select item 14747662939.

rs1474766293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:50191339 (GRCh38)
20:48807876 (GRCh37)
Canonical SPDI:: NC_000020.11:50191338:C:G,NC_000020.11:50191338:C:T
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000012/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50191339C>G, NC_000020.11:g.50191339C>T, NC_000020.10:g.48807876C>G, NC_000020.10:g.48807876C>T, NG_029019.1:g.5501C>G, NG_029019.1:g.5501C>T, NM_005194.4:c.306C>G, NM_005194.4:c.306C>T, NM_005194.3:c.306C>G, NM_005194.3:c.306C>T, NM_001285879.1:c.-289C>G, NM_001285879.1:c.-289C>T, NM_001285878.1:c.237C>G, NM_001285878.1:c.237C>T, NR_125739.1:n.490G>C, NR_125739.1:n.490G>A

Select item 147438337710.

rs1474383377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50191609 (GRCh38)
20:48808146 (GRCh37)
Canonical SPDI:: NC_000020.11:50191608:G:A
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
HGVS:: NC_000020.11:g.50191609G>A, NC_000020.10:g.48808146G>A, NG_029019.1:g.5771G>A, NM_005194.4:c.576G>A, NM_005194.3:c.576G>A, NM_001285879.1:c.-19G>A, NM_001285878.1:c.507G>A

Select item 147345446311.

rs1473454463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50191714 (GRCh38)
20:48808251 (GRCh37)
Canonical SPDI:: NC_000020.11:50191713:C:T
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.50191714C>T, NC_000020.10:g.48808251C>T, NG_029019.1:g.5876C>T, NM_005194.4:c.681C>T, NM_005194.3:c.681C>T, NM_001285879.1:c.87C>T, NM_001285878.1:c.612C>T, NR_125739.1:n.356G>A

Select item 146929133312.

rs1469291333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50191943 (GRCh38)
20:48808480 (GRCh37)
Canonical SPDI:: NC_000020.11:50191942:C:T
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.50191943C>T, NC_000020.10:g.48808480C>T, NG_029019.1:g.6105C>T, NM_005194.4:c.910C>T, NM_005194.3:c.910C>T, NM_001285879.1:c.316C>T, NM_001285878.1:c.841C>T, NR_125739.1:n.127G>A

Select item 146740651013.

rs1467406510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:50191927 (GRCh38)
20:48808464 (GRCh37)
Canonical SPDI:: NC_000020.11:50191926:G:A,NC_000020.11:50191926:G:C
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.50191927G>A, NC_000020.11:g.50191927G>C, NC_000020.10:g.48808464G>A, NC_000020.10:g.48808464G>C, NG_029019.1:g.6089G>A, NG_029019.1:g.6089G>C, NM_005194.4:c.894G>A, NM_005194.4:c.894G>C, NM_005194.3:c.894G>A, NM_005194.3:c.894G>C, NM_001285879.1:c.300G>A, NM_001285879.1:c.300G>C, NM_001285878.1:c.825G>A, NM_001285878.1:c.825G>C, NR_125739.1:n.143C>T, NR_125739.1:n.143C>G, NP_005185.2:p.Glu298Asp, NP_001272808.1:p.Glu100Asp, NP_001272807.1:p.Glu275Asp

Select item 146621675714.

rs1466216757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50191726 (GRCh38)
20:48808263 (GRCh37)
Canonical SPDI:: NC_000020.11:50191725:C:T
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50191726C>T, NC_000020.10:g.48808263C>T, NG_029019.1:g.5888C>T, NM_005194.4:c.693C>T, NM_005194.3:c.693C>T, NM_001285879.1:c.99C>T, NM_001285878.1:c.624C>T, NR_125739.1:n.344G>A

Select item 145955601415.

rs1459556014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50191907 (GRCh38)
20:48808444 (GRCh37)
Canonical SPDI:: NC_000020.11:50191906:G:A
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50191907G>A, NC_000020.10:g.48808444G>A, NG_029019.1:g.6069G>A, NM_005194.4:c.874G>A, NM_005194.3:c.874G>A, NM_001285879.1:c.280G>A, NM_001285878.1:c.805G>A, NR_125739.1:n.163C>T, NP_005185.2:p.Ala292Thr, NP_001272808.1:p.Ala94Thr, NP_001272807.1:p.Ala269Thr

Select item 145868238416.

rs1458682384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:50191855 (GRCh38)
20:48808392 (GRCh37)
Canonical SPDI:: NC_000020.11:50191854:C:G,NC_000020.11:50191854:C:T
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50191855C>G, NC_000020.11:g.50191855C>T, NC_000020.10:g.48808392C>G, NC_000020.10:g.48808392C>T, NG_029019.1:g.6017C>G, NG_029019.1:g.6017C>T, NM_005194.4:c.822C>G, NM_005194.4:c.822C>T, NM_005194.3:c.822C>G, NM_005194.3:c.822C>T, NM_001285879.1:c.228C>G, NM_001285879.1:c.228C>T, NM_001285878.1:c.753C>G, NM_001285878.1:c.753C>T, NR_125739.1:n.215G>C, NR_125739.1:n.215G>A, NP_005185.2:p.Tyr274Ter, NP_001272808.1:p.Tyr76Ter, NP_001272807.1:p.Tyr251Ter

Select item 145660596017.

rs1456605960 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:50191226 (GRCh38)
20:48807763 (GRCh37)
Canonical SPDI:: NC_000020.11:50191225:A:C
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50191226A>C, NC_000020.10:g.48807763A>C, NG_029019.1:g.5388A>C, NM_005194.4:c.193A>C, NM_005194.3:c.193A>C, NM_001285879.1:c.-402A>C, NM_001285878.1:c.124A>C, NP_005185.2:p.Ser65Arg, NP_001272807.1:p.Ser42Arg

Select item 145084195818.

rs1450841958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:50191649 (GRCh38)
20:48808186 (GRCh37)
Canonical SPDI:: NC_000020.11:50191648:G:T
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.50191649G>T, NC_000020.10:g.48808186G>T, NG_029019.1:g.5811G>T, NM_005194.4:c.616G>T, NM_005194.3:c.616G>T, NM_001285879.1:c.22G>T, NM_001285878.1:c.547G>T, NP_005185.2:p.Ala206Ser, NP_001272808.1:p.Ala8Ser, NP_001272807.1:p.Ala183Ser

Select item 145070330019.

rs1450703300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50191285 (GRCh38)
20:48807822 (GRCh37)
Canonical SPDI:: NC_000020.11:50191284:G:A
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
HGVS:: NC_000020.11:g.50191285G>A, NC_000020.10:g.48807822G>A, NG_029019.1:g.5447G>A, NM_005194.4:c.252G>A, NM_005194.3:c.252G>A, NM_001285879.1:c.-343G>A, NM_001285878.1:c.183G>A, NR_125739.1:n.544C>T

Select item 144946389320.

rs1449463893 has merged into rs764898888 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCGCGCCCGCC>-,CCCGCGCCCGCCCCCGCGCCCGCC [Show Flanks]
Chromosome:: 20:50191349 (GRCh38)
20:48807886 (GRCh37)
Canonical SPDI:: NC_000020.11:50191336:CCCGCGCCCGCCCCCGCGCCCGCC:CCCGCGCCCGCC,NC_000020.11:50191336:CCCGCGCCCGCCCCCGCGCCCGCC:CCCGCGCCCGCCCCCGCGCCCGCCCCCGCGCCCGCC
Gene:: CEBPB (Varview), CEBPB-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_insertion,coding_sequence_variant,5_prime_UTR_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CCCGCGCCCGCCCCCGCGCCCGCC=0.000047/1 (ALFA)
-=0./0 (ExAC)
-=0.000053/14 (TOPMED)
-=0.000071/1 (TOMMO)
-=0.000484/41 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50191337CCCGCGCCCGCC[1], NC_000020.11:g.50191337CCCGCGCCCGCC[3], NC_000020.10:g.48807874CCCGCGCCCGCC[1], NC_000020.10:g.48807874CCCGCGCCCGCC[3], NG_029019.1:g.5499CCCGCGCCCGCC[1], NG_029019.1:g.5499CCCGCGCCCGCC[3], NM_005194.4:c.304CCCGCGCCCGCC[1], NM_005194.4:c.304CCCGCGCCCGCC[3], NM_005194.3:c.304CCCGCGCCCGCC[1], NM_005194.3:c.304CCCGCGCCCGCC[3], NM_001285879.1:c.-291CCCGCGCCCGCC[1], NM_001285879.1:c.-291CCCGCGCCCGCC[3], NM_001285878.1:c.235CCCGCGCCCGCC[1], NM_001285878.1:c.235CCCGCGCCCGCC[3], NR_125739.1:n.469GGCGGGCGCGGG[1], NR_125739.1:n.469GGCGGGCGCGGG[3], NP_005185.2:p.102PA[2], NP_005185.2:p.102PA[6], NP_001272807.1:p.79PA[2], NP_001272807.1:p.79PA[6]

<< First< Prev

Page of 21

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 402

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity