SNP Links for Protein (Select 1034660683) - SNP

Links from Protein

Items: 1 to 20 of 169

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Select item 14832574021.

rs1483257402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:91076723 (GRCh38)
8:92088951 (GRCh37)
Canonical SPDI:: NC_000008.11:91076722:A:G
Gene:: OTUD6B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.91076723A>G, NC_000008.10:g.92088951A>G, NM_001286745.3:c.4A>G, NM_001286745.2:c.4A>G, NM_001286745.1:c.4A>G, XM_011517129.3:c.4A>G, XM_011517129.2:c.4A>G, XM_011517129.1:c.533A>G, XM_047421864.1:c.443A>G, NP_001273674.1:p.Ile2Val, XP_011515431.2:p.Ile2Val, XP_047277820.1:p.Asp148Gly

Select item 14826060752.

rs1482606075 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:91084801 (GRCh38)
8:92097029 (GRCh37)
Canonical SPDI:: NC_000008.11:91084800:A:G
Gene:: OTUD6B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000009/2 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000008.11:g.91084801A>G, NC_000008.10:g.92097029A>G, NM_016023.5:c.815A>G, NM_016023.4:c.815A>G, NM_016023.3:c.905A>G, NM_001286745.3:c.512A>G, NM_001286745.2:c.512A>G, NM_001286745.1:c.512A>G, XM_011517129.3:c.512A>G, XM_011517129.2:c.512A>G, NP_057107.4:p.Tyr272Cys, NP_001273674.1:p.Tyr171Cys, XP_011515431.2:p.Tyr171Cys

Select item 14785234983.

rs1478523498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:91078448 (GRCh38)
8:92090676 (GRCh37)
Canonical SPDI:: NC_000008.11:91078447:G:C
Gene:: OTUD6B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.91078448G>C, NC_000008.10:g.92090676G>C, NM_016023.5:c.408G>C, NM_016023.4:c.408G>C, NM_016023.3:c.498G>C, NM_001286745.3:c.105G>C, NM_001286745.2:c.105G>C, NM_001286745.1:c.105G>C, XM_011517129.3:c.105G>C, XM_011517129.2:c.105G>C, NP_057107.4:p.Glu136Asp, NP_001273674.1:p.Glu35Asp, XP_011515431.2:p.Glu35Asp

Select item 14742864264.

rs1474286426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:91078647 (GRCh38)
8:92090875 (GRCh37)
Canonical SPDI:: NC_000008.11:91078646:A:G
Gene:: OTUD6B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
G=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.91078647A>G, NC_000008.10:g.92090875A>G, NM_016023.5:c.607A>G, NM_016023.4:c.607A>G, NM_016023.3:c.697A>G, NM_001286745.3:c.304A>G, NM_001286745.2:c.304A>G, NM_001286745.1:c.304A>G, XM_011517129.3:c.304A>G, XM_011517129.2:c.304A>G, NP_057107.4:p.Thr203Ala, NP_001273674.1:p.Thr102Ala, XP_011515431.2:p.Thr102Ala

Select item 14741044695.

rs1474104469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:91078365 (GRCh38)
8:92090593 (GRCh37)
Canonical SPDI:: NC_000008.11:91078364:G:C
Gene:: OTUD6B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.91078365G>C, NC_000008.10:g.92090593G>C, NM_016023.5:c.325G>C, NM_016023.4:c.325G>C, NM_016023.3:c.415G>C, NM_001286745.3:c.22G>C, NM_001286745.2:c.22G>C, NM_001286745.1:c.22G>C, XM_011517129.3:c.22G>C, XM_011517129.2:c.22G>C, NP_057107.4:p.Ala109Pro, NP_001273674.1:p.Ala8Pro, XP_011515431.2:p.Ala8Pro

Select item 14725775306.

rs1472577530 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 8:91078567 (GRCh38)
8:92090795 (GRCh37)
Canonical SPDI:: NC_000008.11:91078564:TGTG:TG
Gene:: OTUD6B (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.91078565TG[1], NC_000008.10:g.92090793TG[1], NM_016023.5:c.527_528del, NM_016023.4:c.527_528del, NM_016023.3:c.617_618del, NM_001286745.3:c.224_225del, NM_001286745.2:c.224_225del, NM_001286745.1:c.224_225del, XM_011517129.3:c.224_225del, XM_011517129.2:c.224_225del, NP_057107.4:p.Val176fs, NP_001273674.1:p.Val75fs, XP_011515431.2:p.Val75fs

Select item 14724244977.

rs1472424497 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:91078538 (GRCh38)
8:92090766 (GRCh37)
Canonical SPDI:: NC_000008.11:91078537:A:G
Gene:: OTUD6B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.91078538A>G, NC_000008.10:g.92090766A>G, NM_016023.5:c.498A>G, NM_016023.4:c.498A>G, NM_016023.3:c.588A>G, NM_001286745.3:c.195A>G, NM_001286745.2:c.195A>G, NM_001286745.1:c.195A>G, XM_011517129.3:c.195A>G, XM_011517129.2:c.195A>G

Select item 14684988138.

rs1468498813 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:91078655 (GRCh38)
8:92090884 (GRCh37)
Canonical SPDI:: NC_000008.11:91078655:A:AA
Gene:: OTUD6B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.91078656dup, NC_000008.10:g.92090884dup, NM_016023.5:c.616dup, NM_016023.4:c.616dup, NM_016023.3:c.706dup, NM_001286745.3:c.313dup, NM_001286745.2:c.313dup, NM_001286745.1:c.313dup, XM_011517129.3:c.313dup, XM_011517129.2:c.313dup, NP_057107.4:p.Met206fs, NP_001273674.1:p.Met105fs, XP_011515431.2:p.Met105fs

Select item 14608841969.

rs1460884196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:91084831 (GRCh38)
8:92097059 (GRCh37)
Canonical SPDI:: NC_000008.11:91084830:C:T
Gene:: OTUD6B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.91084831C>T, NC_000008.10:g.92097059C>T, NM_016023.5:c.845C>T, NM_016023.4:c.845C>T, NM_016023.3:c.935C>T, NM_001286745.3:c.542C>T, NM_001286745.2:c.542C>T, NM_001286745.1:c.542C>T, XM_011517129.3:c.542C>T, XM_011517129.2:c.542C>T, NP_057107.4:p.Thr282Ile, NP_001273674.1:p.Thr181Ile, XP_011515431.2:p.Thr181Ile

Select item 146044701410.

rs1460447014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:91084053 (GRCh38)
8:92096281 (GRCh37)
Canonical SPDI:: NC_000008.11:91084052:C:G
Gene:: OTUD6B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000008.11:g.91084053C>G, NC_000008.10:g.92096281C>G, NM_016023.5:c.736C>G, NM_016023.4:c.736C>G, NM_016023.3:c.826C>G, NM_001286745.3:c.433C>G, NM_001286745.2:c.433C>G, NM_001286745.1:c.433C>G, XM_011517129.3:c.433C>G, XM_011517129.2:c.433C>G, NP_057107.4:p.Gln246Glu, NP_001273674.1:p.Gln145Glu, XP_011515431.2:p.Gln145Glu

Select item 146043831711.

rs1460438317 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:91080691 (GRCh38)
8:92092919 (GRCh37)
Canonical SPDI:: NC_000008.11:91080690:A:G
Gene:: OTUD6B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_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_000008.11:g.91080691A>G, NC_000008.10:g.92092919A>G, NM_016023.5:c.651A>G, NM_016023.4:c.651A>G, NM_016023.3:c.741A>G, NM_001286745.3:c.348A>G, NM_001286745.2:c.348A>G, NM_001286745.1:c.348A>G, XM_011517129.3:c.348A>G, XM_011517129.2:c.348A>G

Select item 145725778612.

rs1457257786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:91084054 (GRCh38)
8:92096282 (GRCh37)
Canonical SPDI:: NC_000008.11:91084053:A:C
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.91084054A>C, NC_000008.10:g.92096282A>C, NM_016023.5:c.737A>C, NM_016023.4:c.737A>C, NM_016023.3:c.827A>C, NM_001286745.3:c.434A>C, NM_001286745.2:c.434A>C, NM_001286745.1:c.434A>C, XM_011517129.3:c.434A>C, XM_011517129.2:c.434A>C, NP_057107.4:p.Gln246Pro, NP_001273674.1:p.Gln145Pro, XP_011515431.2:p.Gln145Pro

Select item 145680695113.

rs1456806951 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:91078472 (GRCh38)
8:92090700 (GRCh37)
Canonical SPDI:: NC_000008.11:91078471:T:C
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000008.11:g.91078472T>C, NC_000008.10:g.92090700T>C, NM_016023.5:c.432T>C, NM_016023.4:c.432T>C, NM_016023.3:c.522T>C, NM_001286745.3:c.129T>C, NM_001286745.2:c.129T>C, NM_001286745.1:c.129T>C, XM_011517129.3:c.129T>C, XM_011517129.2:c.129T>C

Select item 144926601614.

rs1449266016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:91078611 (GRCh38)
8:92090839 (GRCh37)
Canonical SPDI:: NC_000008.11:91078610:G:A
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.91078611G>A, NC_000008.10:g.92090839G>A, NM_016023.5:c.571G>A, NM_016023.4:c.571G>A, NM_016023.3:c.661G>A, NM_001286745.3:c.268G>A, NM_001286745.2:c.268G>A, NM_001286745.1:c.268G>A, XM_011517129.3:c.268G>A, XM_011517129.2:c.268G>A, NP_057107.4:p.Val191Met, NP_001273674.1:p.Val90Met, XP_011515431.2:p.Val90Met

Select item 144818763215.

rs1448187632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:91084065 (GRCh38)
8:92096293 (GRCh37)
Canonical SPDI:: NC_000008.11:91084064:C:T
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.91084065C>T, NC_000008.10:g.92096293C>T, NM_016023.5:c.748C>T, NM_016023.4:c.748C>T, NM_016023.3:c.838C>T, NM_001286745.3:c.445C>T, NM_001286745.2:c.445C>T, NM_001286745.1:c.445C>T, XM_011517129.3:c.445C>T, XM_011517129.2:c.445C>T, NP_057107.4:p.Pro250Ser, NP_001273674.1:p.Pro149Ser, XP_011515431.2:p.Pro149Ser

Select item 144465035516.

rs1444650355 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:91078648 (GRCh38)
8:92090876 (GRCh37)
Canonical SPDI:: NC_000008.11:91078647:C:T
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.91078648C>T, NC_000008.10:g.92090876C>T, NM_016023.5:c.608C>T, NM_016023.4:c.608C>T, NM_016023.3:c.698C>T, NM_001286745.3:c.305C>T, NM_001286745.2:c.305C>T, NM_001286745.1:c.305C>T, XM_011517129.3:c.305C>T, XM_011517129.2:c.305C>T, NP_057107.4:p.Thr203Ile, NP_001273674.1:p.Thr102Ile, XP_011515431.2:p.Thr102Ile

Select item 144322509517.

rs1443225095 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:91084852 (GRCh38)
8:92097081 (GRCh37)
Canonical SPDI:: NC_000008.11:91084852:T:TT
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.91084853dup, NC_000008.10:g.92097081dup, NM_016023.5:c.867dup, NM_016023.4:c.867dup, NM_016023.3:c.957dup, NM_001286745.3:c.564dup, NM_001286745.2:c.564dup, NM_001286745.1:c.564dup, XM_011517129.3:c.564dup, XM_011517129.2:c.564dup, NP_057107.4:p.Glu290Ter, NP_001273674.1:p.Glu189Ter, XP_011515431.2:p.Glu189Ter

Select item 143687561218.

rs1436875612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:91078509 (GRCh38)
8:92090737 (GRCh37)
Canonical SPDI:: NC_000008.11:91078508:C:A
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.91078509C>A, NC_000008.10:g.92090737C>A, NM_016023.5:c.469C>A, NM_016023.4:c.469C>A, NM_016023.3:c.559C>A, NM_001286745.3:c.166C>A, NM_001286745.2:c.166C>A, NM_001286745.1:c.166C>A, XM_011517129.3:c.166C>A, XM_011517129.2:c.166C>A, NP_057107.4:p.His157Asn, NP_001273674.1:p.His56Asn, XP_011515431.2:p.His56Asn

Select item 143490035219.

rs1434900352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:91084041 (GRCh38)
8:92096269 (GRCh37)
Canonical SPDI:: NC_000008.11:91084040:A:G
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000085/3 (ALFA)
G=0./0 (Korea1K)
G=0.000007/1 (GnomAD)
G=0.00001/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.91084041A>G, NC_000008.10:g.92096269A>G, NM_016023.5:c.724A>G, NM_016023.4:c.724A>G, NM_016023.3:c.814A>G, NM_001286745.3:c.421A>G, NM_001286745.2:c.421A>G, NM_001286745.1:c.421A>G, XM_011517129.3:c.421A>G, XM_011517129.2:c.421A>G, NP_057107.4:p.Ile242Val, NP_001273674.1:p.Ile141Val, XP_011515431.2:p.Ile141Val

Select item 140860966820.

rs1408609668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:91084072 (GRCh38)
8:92096300 (GRCh37)
Canonical SPDI:: NC_000008.11:91084071:T:C
Gene:: OTUD6B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.91084072T>C, NC_000008.10:g.92096300T>C, NM_016023.5:c.755T>C, NM_016023.4:c.755T>C, NM_016023.3:c.845T>C, NM_001286745.3:c.452T>C, NM_001286745.2:c.452T>C, NM_001286745.1:c.452T>C, XM_011517129.3:c.452T>C, XM_011517129.2:c.452T>C, NP_057107.4:p.Ile252Thr, NP_001273674.1:p.Ile151Thr, XP_011515431.2:p.Ile151Thr

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