SNP Links for Protein (Select 59797063) - SNP

Links from Protein

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Select item 14909757831.

rs1490975783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:78867774 (GRCh38)
6:79577491 (GRCh37)
Canonical SPDI:: NC_000006.12:78867773:C:A
Gene:: IRAK1BP1 (Varview), LOC107986613 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000006.12:g.78867774C>A, NC_000006.11:g.79577491C>A, NM_001010844.4:c.198C>A, NM_001010844.3:c.198C>A, NM_001010844.2:c.198C>A, XM_006715336.4:c.198C>A, XM_006715336.3:c.198C>A, XM_006715336.2:c.198C>A, XM_006715336.1:c.198C>A, XR_942279.3:n.224C>A, XR_942279.2:n.275C>A, XR_942279.1:n.274C>A, XM_011535448.3:c.198C>A, XM_011535448.2:c.198C>A, XM_011535448.1:c.198C>A, XM_011535447.2:c.198C>A, XM_011535447.1:c.198C>A, XM_047418194.1:c.198C>A, NP_001010844.1:p.Asp66Glu, XP_006715399.1:p.Asp66Glu, XP_011533750.1:p.Asp66Glu, XP_011533749.1:p.Asp66Glu, XP_047274150.1:p.Asp66Glu

Select item 14876133302.

rs1487613330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:78898075 (GRCh38)
6:79607792 (GRCh37)
Canonical SPDI:: NC_000006.12:78898074:G:C
Gene:: IRAK1BP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.78898075G>C, NC_000006.11:g.79607792G>C, NM_001010844.4:c.524G>C, NM_001010844.3:c.524G>C, NM_001010844.2:c.524G>C, XM_006715336.4:c.524G>C, XM_006715336.3:c.524G>C, XM_006715336.2:c.524G>C, XM_006715336.1:c.524G>C, XM_011535447.2:c.524G>C, XM_011535447.1:c.524G>C, XM_047418193.1:c.155G>C, NP_001010844.1:p.Cys175Ser, XP_006715399.1:p.Cys175Ser, XP_011533749.1:p.Cys175Ser, XP_047274149.1:p.Cys52Ser

Select item 14824465113.

rs1482446511 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:78898317 (GRCh38)
6:79608034 (GRCh37)
Canonical SPDI:: NC_000006.12:78898316:A:G
Gene:: IRAK1BP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.78898317A>G, NC_000006.11:g.79608034A>G, NM_001010844.4:c.766A>G, NM_001010844.3:c.766A>G, NM_001010844.2:c.766A>G, NP_001010844.1:p.Arg256Gly

Select item 14815355234.

rs1481535523 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 6:78897900 (GRCh38)
6:79607617 (GRCh37)
Canonical SPDI:: NC_000006.12:78897899:C:
Gene:: IRAK1BP1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.78897900del, NC_000006.11:g.79607617del, NM_001010844.4:c.453del, NM_001010844.3:c.453del, NM_001010844.2:c.453del, XM_006715336.4:c.453del, XM_006715336.3:c.453del, XM_006715336.2:c.453del, XM_006715336.1:c.453del, XR_942279.3:n.479del, XR_942279.2:n.530del, XR_942279.1:n.529del, XM_011535447.2:c.453del, XM_011535447.1:c.453del, XM_047418193.1:c.84del, NP_001010844.1:p.Ser152fs, XP_006715399.1:p.Ser152fs, XP_011533749.1:p.Ser152fs, XP_047274149.1:p.Ser29fs

Select item 14795648035.

rs1479564803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:78867714 (GRCh38)
6:79577431 (GRCh37)
Canonical SPDI:: NC_000006.12:78867713:C:G
Gene:: IRAK1BP1 (Varview), LOC107986613 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.78867714C>G, NC_000006.11:g.79577431C>G, NM_001010844.4:c.138C>G, NM_001010844.3:c.138C>G, NM_001010844.2:c.138C>G, XM_006715336.4:c.138C>G, XM_006715336.3:c.138C>G, XM_006715336.2:c.138C>G, XM_006715336.1:c.138C>G, XR_942279.3:n.164C>G, XR_942279.2:n.215C>G, XR_942279.1:n.214C>G, XM_011535448.3:c.138C>G, XM_011535448.2:c.138C>G, XM_011535448.1:c.138C>G, XM_011535447.2:c.138C>G, XM_011535447.1:c.138C>G, XM_047418194.1:c.138C>G

Select item 14772396626.

rs1477239662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:78867666 (GRCh38)
6:79577383 (GRCh37)
Canonical SPDI:: NC_000006.12:78867665:G:A
Gene:: IRAK1BP1 (Varview), LOC107986613 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.78867666G>A, NC_000006.11:g.79577383G>A, NM_001010844.4:c.90G>A, NM_001010844.3:c.90G>A, NM_001010844.2:c.90G>A, XM_006715336.4:c.90G>A, XM_006715336.3:c.90G>A, XM_006715336.2:c.90G>A, XM_006715336.1:c.90G>A, XR_942279.3:n.116G>A, XR_942279.2:n.167G>A, XR_942279.1:n.166G>A, XM_011535448.3:c.90G>A, XM_011535448.2:c.90G>A, XM_011535448.1:c.90G>A, XM_011535447.2:c.90G>A, XM_011535447.1:c.90G>A, XM_047418194.1:c.90G>A

Select item 14683187407.

rs1468318740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:78867765 (GRCh38)
6:79577482 (GRCh37)
Canonical SPDI:: NC_000006.12:78867764:G:C
Gene:: IRAK1BP1 (Varview), LOC107986613 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000006.12:g.78867765G>C, NC_000006.11:g.79577482G>C, NM_001010844.4:c.189G>C, NM_001010844.3:c.189G>C, NM_001010844.2:c.189G>C, XM_006715336.4:c.189G>C, XM_006715336.3:c.189G>C, XM_006715336.2:c.189G>C, XM_006715336.1:c.189G>C, XR_942279.3:n.215G>C, XR_942279.2:n.266G>C, XR_942279.1:n.265G>C, XM_011535448.3:c.189G>C, XM_011535448.2:c.189G>C, XM_011535448.1:c.189G>C, XM_011535447.2:c.189G>C, XM_011535447.1:c.189G>C, XM_047418194.1:c.189G>C

Select item 14676554108.

rs1467655410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:78867648 (GRCh38)
6:79577365 (GRCh37)
Canonical SPDI:: NC_000006.12:78867647:G:A
Gene:: IRAK1BP1 (Varview), LOC107986613 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.78867648G>A, NC_000006.11:g.79577365G>A, NM_001010844.4:c.72G>A, NM_001010844.3:c.72G>A, NM_001010844.2:c.72G>A, XM_006715336.4:c.72G>A, XM_006715336.3:c.72G>A, XM_006715336.2:c.72G>A, XM_006715336.1:c.72G>A, XR_942279.3:n.98G>A, XR_942279.2:n.149G>A, XR_942279.1:n.148G>A, XM_011535448.3:c.72G>A, XM_011535448.2:c.72G>A, XM_011535448.1:c.72G>A, XM_011535447.2:c.72G>A, XM_011535447.1:c.72G>A, XM_047418194.1:c.72G>A

Select item 14623081189.

rs1462308118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:78867727 (GRCh38)
6:79577444 (GRCh37)
Canonical SPDI:: NC_000006.12:78867726:C:G
Gene:: IRAK1BP1 (Varview), LOC107986613 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000087/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.78867727C>G, NC_000006.11:g.79577444C>G, NM_001010844.4:c.151C>G, NM_001010844.3:c.151C>G, NM_001010844.2:c.151C>G, XM_006715336.4:c.151C>G, XM_006715336.3:c.151C>G, XM_006715336.2:c.151C>G, XM_006715336.1:c.151C>G, XR_942279.3:n.177C>G, XR_942279.2:n.228C>G, XR_942279.1:n.227C>G, XM_011535448.3:c.151C>G, XM_011535448.2:c.151C>G, XM_011535448.1:c.151C>G, XM_011535447.2:c.151C>G, XM_011535447.1:c.151C>G, XM_047418194.1:c.151C>G, NP_001010844.1:p.Arg51Gly, XP_006715399.1:p.Arg51Gly, XP_011533750.1:p.Arg51Gly, XP_011533749.1:p.Arg51Gly, XP_047274150.1:p.Arg51Gly

Select item 145745880410.

rs1457458804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:78897922 (GRCh38)
6:79607639 (GRCh37)
Canonical SPDI:: NC_000006.12:78897921:C:T
Gene:: IRAK1BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.78897922C>T, NC_000006.11:g.79607639C>T, NM_001010844.4:c.475C>T, NM_001010844.3:c.475C>T, NM_001010844.2:c.475C>T, XM_006715336.4:c.475C>T, XM_006715336.3:c.475C>T, XM_006715336.2:c.475C>T, XM_006715336.1:c.475C>T, XR_942279.3:n.501C>T, XR_942279.2:n.552C>T, XR_942279.1:n.551C>T, XM_011535447.2:c.475C>T, XM_011535447.1:c.475C>T, XM_047418193.1:c.106C>T, NP_001010844.1:p.Gln159Ter, XP_006715399.1:p.Gln159Ter, XP_011533749.1:p.Gln159Ter, XP_047274149.1:p.Gln36Ter

Select item 145606199011.

rs1456061990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:78898115 (GRCh38)
6:79607832 (GRCh37)
Canonical SPDI:: NC_000006.12:78898114:A:G,NC_000006.12:78898114:A:T
Gene:: IRAK1BP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.78898115A>G, NC_000006.12:g.78898115A>T, NC_000006.11:g.79607832A>G, NC_000006.11:g.79607832A>T, NM_001010844.4:c.564A>G, NM_001010844.4:c.564A>T, NM_001010844.3:c.564A>G, NM_001010844.3:c.564A>T, NM_001010844.2:c.564A>G, NM_001010844.2:c.564A>T, XM_006715336.4:c.564A>G, XM_006715336.4:c.564A>T, XM_006715336.3:c.564A>G, XM_006715336.3:c.564A>T, XM_006715336.2:c.564A>G, XM_006715336.2:c.564A>T, XM_006715336.1:c.564A>G, XM_006715336.1:c.564A>T, XM_011535447.2:c.564A>G, XM_011535447.2:c.564A>T, XM_011535447.1:c.564A>G, XM_011535447.1:c.564A>T, XM_047418193.1:c.195A>G, XM_047418193.1:c.195A>T, NP_001010844.1:p.Glu188Asp, XP_006715399.1:p.Glu188Asp, XP_011533749.1:p.Glu188Asp, XP_047274149.1:p.Glu65Asp

Select item 145433061012.

rs1454330610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:78867598 (GRCh38)
6:79577315 (GRCh37)
Canonical SPDI:: NC_000006.12:78867597:C:T
Gene:: IRAK1BP1 (Varview), LOC107986613 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.78867598C>T, NC_000006.11:g.79577315C>T, NM_001010844.4:c.22C>T, NM_001010844.3:c.22C>T, NM_001010844.2:c.22C>T, XM_006715336.4:c.22C>T, XM_006715336.3:c.22C>T, XM_006715336.2:c.22C>T, XM_006715336.1:c.22C>T, XR_942279.3:n.48C>T, XR_942279.2:n.99C>T, XR_942279.1:n.98C>T, XM_011535448.3:c.22C>T, XM_011535448.2:c.22C>T, XM_011535448.1:c.22C>T, XM_011535447.2:c.22C>T, XM_011535447.1:c.22C>T, XM_047418194.1:c.22C>T, NP_001010844.1:p.Pro8Ser, XP_006715399.1:p.Pro8Ser, XP_011533750.1:p.Pro8Ser, XP_011533749.1:p.Pro8Ser, XP_047274150.1:p.Pro8Ser

Select item 144850561313.

rs1448505613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:78897900 (GRCh38)
6:79607617 (GRCh37)
Canonical SPDI:: NC_000006.12:78897899:C:T
Gene:: IRAK1BP1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.78897900C>T, NC_000006.11:g.79607617C>T, NM_001010844.4:c.453C>T, NM_001010844.3:c.453C>T, NM_001010844.2:c.453C>T, XM_006715336.4:c.453C>T, XM_006715336.3:c.453C>T, XM_006715336.2:c.453C>T, XM_006715336.1:c.453C>T, XR_942279.3:n.479C>T, XR_942279.2:n.530C>T, XR_942279.1:n.529C>T, XM_011535447.2:c.453C>T, XM_011535447.1:c.453C>T, XM_047418193.1:c.84C>T

Select item 144635782014.

rs1446357820 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 6:78898157 (GRCh38)
6:79607874 (GRCh37)
Canonical SPDI:: NC_000006.12:78898156:AA:A
Gene:: IRAK1BP1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.78898158del, NC_000006.11:g.79607875del, NM_001010844.4:c.607del, NM_001010844.3:c.607del, NM_001010844.2:c.607del, XM_006715336.4:c.607del, XM_006715336.3:c.607del, XM_006715336.2:c.607del, XM_006715336.1:c.607del, XM_011535447.2:c.607del, XM_011535447.1:c.607del, XM_047418193.1:c.238del, NP_001010844.1:p.Ile203fs, XP_006715399.1:p.Ile203fs, XP_011533749.1:p.Ile203fs, XP_047274149.1:p.Ile80fs

Select item 144488863115.

rs1444888631 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:78867592 (GRCh38)
6:79577310 (GRCh37)
Canonical SPDI:: NC_000006.12:78867592:CCCC:CCCCC
Gene:: IRAK1BP1 (Varview), LOC107986613 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CCCCC=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.78867596dup, NC_000006.11:g.79577313dup, NM_001010844.4:c.20dup, NM_001010844.3:c.20dup, NM_001010844.2:c.20dup, XM_006715336.4:c.20dup, XM_006715336.3:c.20dup, XM_006715336.2:c.20dup, XM_006715336.1:c.20dup, XR_942279.3:n.46dup, XR_942279.2:n.97dup, XR_942279.1:n.96dup, XM_011535448.3:c.20dup, XM_011535448.2:c.20dup, XM_011535448.1:c.20dup, XM_011535447.2:c.20dup, XM_011535447.1:c.20dup, XM_047418194.1:c.20dup, NP_001010844.1:p.Pro8fs, XP_006715399.1:p.Pro8fs, XP_011533750.1:p.Pro8fs, XP_011533749.1:p.Pro8fs, XP_047274150.1:p.Pro8fs

Select item 143982681416.

rs1439826814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:78897955 (GRCh38)
6:79607672 (GRCh37)
Canonical SPDI:: NC_000006.12:78897954:C:A
Gene:: IRAK1BP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.78897955C>A, NC_000006.11:g.79607672C>A, NM_001010844.4:c.508C>A, NM_001010844.3:c.508C>A, NM_001010844.2:c.508C>A, XM_006715336.4:c.508C>A, XM_006715336.3:c.508C>A, XM_006715336.2:c.508C>A, XM_006715336.1:c.508C>A, XR_942279.3:n.534C>A, XR_942279.2:n.585C>A, XR_942279.1:n.584C>A, XM_011535447.2:c.508C>A, XM_011535447.1:c.508C>A, XM_047418193.1:c.139C>A, NP_001010844.1:p.Leu170Ile, XP_006715399.1:p.Leu170Ile, XP_011533749.1:p.Leu170Ile, XP_047274149.1:p.Leu47Ile

Select item 143842428917.

rs1438424289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:78867882 (GRCh38)
6:79577599 (GRCh37)
Canonical SPDI:: NC_000006.12:78867881:G:A,NC_000006.12:78867881:G:T
Gene:: IRAK1BP1 (Varview), LOC107986613 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.78867882G>A, NC_000006.12:g.78867882G>T, NC_000006.11:g.79577599G>A, NC_000006.11:g.79577599G>T, NM_001010844.4:c.306G>A, NM_001010844.4:c.306G>T, NM_001010844.3:c.306G>A, NM_001010844.3:c.306G>T, NM_001010844.2:c.306G>A, NM_001010844.2:c.306G>T, XM_006715336.4:c.306G>A, XM_006715336.4:c.306G>T, XM_006715336.3:c.306G>A, XM_006715336.3:c.306G>T, XM_006715336.2:c.306G>A, XM_006715336.2:c.306G>T, XM_006715336.1:c.306G>A, XM_006715336.1:c.306G>T, XR_942279.3:n.332G>A, XR_942279.3:n.332G>T, XR_942279.2:n.383G>A, XR_942279.2:n.383G>T, XR_942279.1:n.382G>A, XR_942279.1:n.382G>T, XM_011535448.3:c.306G>A, XM_011535448.3:c.306G>T, XM_011535448.2:c.306G>A, XM_011535448.2:c.306G>T, XM_011535448.1:c.306G>A, XM_011535448.1:c.306G>T, XM_011535447.2:c.306G>A, XM_011535447.2:c.306G>T, XM_011535447.1:c.306G>A, XM_011535447.1:c.306G>T, XM_047418193.1:c.-261G>A, XM_047418193.1:c.-261G>T, XM_047418194.1:c.306G>A, XM_047418194.1:c.306G>T, NP_001010844.1:p.Gln102His, XP_006715399.1:p.Gln102His, XP_011533750.1:p.Gln102His, XP_011533749.1:p.Gln102His, XP_047274150.1:p.Gln102His

Select item 142965438318.

rs1429654383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:78897904 (GRCh38)
6:79607621 (GRCh37)
Canonical SPDI:: NC_000006.12:78897903:G:A
Gene:: IRAK1BP1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.78897904G>A, NC_000006.11:g.79607621G>A, NM_001010844.4:c.457G>A, NM_001010844.3:c.457G>A, NM_001010844.2:c.457G>A, XM_006715336.4:c.457G>A, XM_006715336.3:c.457G>A, XM_006715336.2:c.457G>A, XM_006715336.1:c.457G>A, XR_942279.3:n.483G>A, XR_942279.2:n.534G>A, XR_942279.1:n.533G>A, XM_011535447.2:c.457G>A, XM_011535447.1:c.457G>A, XM_047418193.1:c.88G>A, NP_001010844.1:p.Val153Ile, XP_006715399.1:p.Val153Ile, XP_011533749.1:p.Val153Ile, XP_047274149.1:p.Val30Ile

Select item 142884450219.

rs1428844502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:78867804 (GRCh38)
6:79577521 (GRCh37)
Canonical SPDI:: NC_000006.12:78867803:C:T
Gene:: IRAK1BP1 (Varview), LOC107986613 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000006.12:g.78867804C>T, NC_000006.11:g.79577521C>T, NM_001010844.4:c.228C>T, NM_001010844.3:c.228C>T, NM_001010844.2:c.228C>T, XM_006715336.4:c.228C>T, XM_006715336.3:c.228C>T, XM_006715336.2:c.228C>T, XM_006715336.1:c.228C>T, XR_942279.3:n.254C>T, XR_942279.2:n.305C>T, XR_942279.1:n.304C>T, XM_011535448.3:c.228C>T, XM_011535448.2:c.228C>T, XM_011535448.1:c.228C>T, XM_011535447.2:c.228C>T, XM_011535447.1:c.228C>T, XM_047418194.1:c.228C>T

Select item 142646285020.

rs1426462850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:78867817 (GRCh38)
6:79577534 (GRCh37)
Canonical SPDI:: NC_000006.12:78867816:G:C
Gene:: IRAK1BP1 (Varview), LOC107986613 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0022/4 (Korea1K)
HGVS:: NC_000006.12:g.78867817G>C, NC_000006.11:g.79577534G>C, NM_001010844.4:c.241G>C, NM_001010844.3:c.241G>C, NM_001010844.2:c.241G>C, XM_006715336.4:c.241G>C, XM_006715336.3:c.241G>C, XM_006715336.2:c.241G>C, XM_006715336.1:c.241G>C, XR_942279.3:n.267G>C, XR_942279.2:n.318G>C, XR_942279.1:n.317G>C, XM_011535448.3:c.241G>C, XM_011535448.2:c.241G>C, XM_011535448.1:c.241G>C, XM_011535447.2:c.241G>C, XM_011535447.1:c.241G>C, XM_047418194.1:c.241G>C, NP_001010844.1:p.Ala81Pro, XP_006715399.1:p.Ala81Pro, XP_011533750.1:p.Ala81Pro, XP_011533749.1:p.Ala81Pro, XP_047274150.1:p.Ala81Pro

dbSNP

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