SNP Links for Protein (Select 24308115) - SNP

Links from Protein

Items: 1 to 20 of 563

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Select item 14878420401.

rs1487842040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45884649 (GRCh38)
19:46387907 (GRCh37)
Canonical SPDI:: NC_000019.10:45884648:G:A
Gene:: IRF2BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45884649G>A, NC_000019.9:g.46387907G>A, NM_015649.3:c.1126C>T, NM_015649.2:c.1126C>T, NM_015649.1:c.1126C>T, NP_056464.1:p.Pro376Ser

Select item 14863132852.

rs1486313285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45885476 (GRCh38)
19:46388734 (GRCh37)
Canonical SPDI:: NC_000019.10:45885475:G:A
Gene:: IRF2BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45885476G>A, NC_000019.9:g.46388734G>A, NM_015649.3:c.299C>T, NM_015649.2:c.299C>T, NM_015649.1:c.299C>T, NP_056464.1:p.Ser100Leu

Select item 14821390003.

rs1482139000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:45884889 (GRCh38)
19:46388147 (GRCh37)
Canonical SPDI:: NC_000019.10:45884888:T:C
Gene:: IRF2BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.45884889T>C, NC_000019.9:g.46388147T>C, NM_015649.3:c.886A>G, NM_015649.2:c.886A>G, NM_015649.1:c.886A>G, NP_056464.1:p.Met296Val

Select item 14817260574.

rs1481726057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45884395 (GRCh38)
19:46387653 (GRCh37)
Canonical SPDI:: NC_000019.10:45884394:G:A
Gene:: IRF2BP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45884395G>A, NC_000019.9:g.46387653G>A, NM_015649.3:c.1380C>T, NM_015649.2:c.1380C>T, NM_015649.1:c.1380C>T

Select item 14806761655.

rs1480676165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:45884991 (GRCh38)
19:46388249 (GRCh37)
Canonical SPDI:: NC_000019.10:45884990:T:C,NC_000019.10:45884990:T:G
Gene:: IRF2BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
G=0.000554/1 (Korea1K)
HGVS:: NC_000019.10:g.45884991T>C, NC_000019.10:g.45884991T>G, NC_000019.9:g.46388249T>C, NC_000019.9:g.46388249T>G, NM_015649.3:c.784A>G, NM_015649.3:c.784A>C, NM_015649.2:c.784A>G, NM_015649.2:c.784A>C, NM_015649.1:c.784A>G, NM_015649.1:c.784A>C, NP_056464.1:p.Thr262Ala, NP_056464.1:p.Thr262Pro

Select item 14783060276.

rs1478306027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:45884331 (GRCh38)
19:46387589 (GRCh37)
Canonical SPDI:: NC_000019.10:45884330:C:G
Gene:: IRF2BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45884331C>G, NC_000019.9:g.46387589C>G, NM_015649.3:c.1444G>C, NM_015649.2:c.1444G>C, NM_015649.1:c.1444G>C, NP_056464.1:p.Gly482Arg

Select item 14751537197.

rs1475153719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45885367 (GRCh38)
19:46388625 (GRCh37)
Canonical SPDI:: NC_000019.10:45885366:C:T
Gene:: IRF2BP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45885367C>T, NC_000019.9:g.46388625C>T, NM_015649.3:c.408G>A, NM_015649.2:c.408G>A, NM_015649.1:c.408G>A

Select item 14735804908.

rs1473580490 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45884257 (GRCh38)
19:46387515 (GRCh37)
Canonical SPDI:: NC_000019.10:45884256:G:A
Gene:: IRF2BP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45884257G>A, NC_000019.9:g.46387515G>A, NM_015649.3:c.1518C>T, NM_015649.2:c.1518C>T, NM_015649.1:c.1518C>T

Select item 14717265419.

rs1471726541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45884249 (GRCh38)
19:46387507 (GRCh37)
Canonical SPDI:: NC_000019.10:45884248:C:T
Gene:: IRF2BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.45884249C>T, NC_000019.9:g.46387507C>T, NM_015649.3:c.1526G>A, NM_015649.2:c.1526G>A, NM_015649.1:c.1526G>A, NP_056464.1:p.Arg509Gln

Select item 147114911110.

rs1471149111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45885747 (GRCh38)
19:46389005 (GRCh37)
Canonical SPDI:: NC_000019.10:45885746:G:A
Gene:: IRF2BP1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45885747G>A, NC_000019.9:g.46389005G>A, NM_015649.3:c.28C>T, NM_015649.2:c.28C>T, NM_015649.1:c.28C>T, NP_056464.1:p.Gln10Ter

Select item 147056372211.

rs1470563722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:45885468 (GRCh38)
19:46388726 (GRCh37)
Canonical SPDI:: NC_000019.10:45885467:C:G
Gene:: IRF2BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45885468C>G, NC_000019.9:g.46388726C>G, NM_015649.3:c.307G>C, NM_015649.2:c.307G>C, NM_015649.1:c.307G>C, NP_056464.1:p.Gly103Arg

Select item 147020724312.

rs1470207243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45884703 (GRCh38)
19:46387961 (GRCh37)
Canonical SPDI:: NC_000019.10:45884702:C:T
Gene:: IRF2BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.45884703C>T, NC_000019.9:g.46387961C>T, NM_015649.3:c.1072G>A, NM_015649.2:c.1072G>A, NM_015649.1:c.1072G>A, NP_056464.1:p.Ala358Thr

Select item 146885742413.

rs1468857424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45885102 (GRCh38)
19:46388360 (GRCh37)
Canonical SPDI:: NC_000019.10:45885101:G:A
Gene:: IRF2BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.45885102G>A, NC_000019.9:g.46388360G>A, NM_015649.3:c.673C>T, NM_015649.2:c.673C>T, NM_015649.1:c.673C>T, NP_056464.1:p.Arg225Cys

Select item 146490465314.

rs1464904653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45884548 (GRCh38)
19:46387806 (GRCh37)
Canonical SPDI:: NC_000019.10:45884547:G:A
Gene:: IRF2BP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45884548G>A, NC_000019.9:g.46387806G>A, NM_015649.3:c.1227C>T, NM_015649.2:c.1227C>T, NM_015649.1:c.1227C>T

Select item 146437779915.

rs1464377799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45884456 (GRCh38)
19:46387714 (GRCh37)
Canonical SPDI:: NC_000019.10:45884455:G:A
Gene:: IRF2BP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.45884456G>A, NC_000019.9:g.46387714G>A, NM_015649.3:c.1319C>T, NM_015649.2:c.1319C>T, NM_015649.1:c.1319C>T, NP_056464.1:p.Pro440Leu

Select item 146294275516.

rs1462942755 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:45884721 (GRCh38)
19:46387979 (GRCh37)
Canonical SPDI:: NC_000019.10:45884720:GGGG:GGG
Gene:: IRF2BP1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45884724del, NC_000019.9:g.46387982del, NM_015649.3:c.1054del, NM_015649.2:c.1054del, NM_015649.1:c.1054del, NP_056464.1:p.Gln352fs

Select item 146199072617.

rs1461990726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:45885408 (GRCh38)
19:46388666 (GRCh37)
Canonical SPDI:: NC_000019.10:45885407:G:C
Gene:: IRF2BP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.45885408G>C, NC_000019.9:g.46388666G>C, NM_015649.3:c.367C>G, NM_015649.2:c.367C>G, NM_015649.1:c.367C>G, NP_056464.1:p.Leu123Val

Select item 146086182418.

rs1460861824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:45885443 (GRCh38)
19:46388701 (GRCh37)
Canonical SPDI:: NC_000019.10:45885442:C:A,NC_000019.10:45885442:C:T
Gene:: IRF2BP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.45885443C>A, NC_000019.10:g.45885443C>T, NC_000019.9:g.46388701C>A, NC_000019.9:g.46388701C>T, NM_015649.3:c.332G>T, NM_015649.3:c.332G>A, NM_015649.2:c.332G>T, NM_015649.2:c.332G>A, NM_015649.1:c.332G>T, NM_015649.1:c.332G>A, NP_056464.1:p.Arg111Leu, NP_056464.1:p.Arg111His

Select item 145902951919.

rs1459029519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45884474 (GRCh38)
19:46387732 (GRCh37)
Canonical SPDI:: NC_000019.10:45884473:C:T
Gene:: IRF2BP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.45884474C>T, NC_000019.9:g.46387732C>T, NM_015649.3:c.1301G>A, NM_015649.2:c.1301G>A, NM_015649.1:c.1301G>A, NP_056464.1:p.Gly434Asp

Select item 145716924420.

rs1457169244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:45884485 (GRCh38)
19:46387743 (GRCh37)
Canonical SPDI:: NC_000019.10:45884484:G:A
Gene:: IRF2BP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000019.10:g.45884485G>A, NC_000019.9:g.46387743G>A, NM_015649.3:c.1290C>T, NM_015649.2:c.1290C>T, NM_015649.1:c.1290C>T

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