SNP Links for Protein (Select 541862389) - SNP

Links from Protein

Items: 1 to 20 of 185

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Select item 14905296871.

rs1490529687 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:7540967 (GRCh38)
8:7398490 (GRCh37)
Canonical SPDI:: NC_000008.11:7540967:AA:AAA
Gene:: PRR23D1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.7540969dup, NC_000008.10:g.7398491dup, NW_018654717.1:g.5377296dup, NT_187570.1:g.224072dup, XM_011534716.4:c.157dup, XM_011534716.3:c.157dup, XM_011534716.2:c.157dup, XM_011534716.1:c.157dup, NM_001282479.1:c.157dup, XP_011533018.1:p.Ile53fs, NP_001269408.1:p.Ile53fs

Select item 14896333222.

rs1489633322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7540670 (GRCh38)
8:7398192 (GRCh37)
Canonical SPDI:: NC_000008.11:7540669:C:T
Gene:: PRR23D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.7540670C>T, NC_000008.10:g.7398192C>T, NW_018654717.1:g.5377594G>A, NT_187570.1:g.223773C>T, XM_011534716.4:c.103C>T, XM_011534716.3:c.103C>T, XM_011534716.2:c.103C>T, XM_011534716.1:c.103C>T, NM_001282479.1:c.103C>T, XP_011533018.1:p.Pro35Ser, NP_001269408.1:p.Pro35Ser

Select item 14869754483.

rs1486975448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7541857 (GRCh38)
8:7399379 (GRCh37)
Canonical SPDI:: NC_000008.11:7541856:C:T
Gene:: PRR23D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.0018/4 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7541857C>T, NC_000008.10:g.7399379C>T, NW_018654717.1:g.5376408G>A, NT_187570.1:g.224960C>T, XM_011534716.4:c.817C>T, XM_011534716.3:c.817C>T, XM_011534716.2:c.817C>T, XM_011534716.1:c.817C>T, NM_001282479.1:c.817C>T, XP_011533018.1:p.Arg273Trp, NP_001269408.1:p.Arg273Trp

Select item 14853289874.

rs1485328987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:7541335 (GRCh38)
8:7398857 (GRCh37)
Canonical SPDI:: NC_000008.11:7541334:A:G,NC_000008.11:7541334:A:T
Gene:: PRR23D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.7541335A>G, NC_000008.11:g.7541335A>T, NC_000008.10:g.7398857A>G, NC_000008.10:g.7398857A>T, NW_018654717.1:g.5376929T>C, NW_018654717.1:g.5376929T>A, NT_187570.1:g.224438A>G, NT_187570.1:g.224438A>T, XM_011534716.4:c.295A>G, XM_011534716.4:c.295A>T, XM_011534716.3:c.295A>G, XM_011534716.3:c.295A>T, XM_011534716.2:c.295A>G, XM_011534716.2:c.295A>T, XM_011534716.1:c.295A>G, XM_011534716.1:c.295A>T, NM_001282479.1:c.295A>G, NM_001282479.1:c.295A>T, XP_011533018.1:p.Ile99Val, XP_011533018.1:p.Ile99Phe, NP_001269408.1:p.Ile99Val, NP_001269408.1:p.Ile99Phe

Select item 14848416595.

rs1484841659 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:7541418 (GRCh38)
8:7398940 (GRCh37)
Canonical SPDI:: NC_000008.11:7541417:A:T
Gene:: PRR23D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00624/84 (ALFA)
T=0.00886/305 (GnomAD)
T=0.01156/74 (1000Genomes)
HGVS:: NC_000008.11:g.7541418A>T, NC_000008.10:g.7398940A>T, NW_018654717.1:g.5376846T>A, NT_187570.1:g.224521A>T, XM_011534716.4:c.378A>T, XM_011534716.3:c.378A>T, XM_011534716.2:c.378A>T, XM_011534716.1:c.378A>T, NM_001282479.1:c.378A>T, XP_011533018.1:p.Glu126Asp, NP_001269408.1:p.Glu126Asp

Select item 14822787276.

rs1482278727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7541681 (GRCh38)
8:7399203 (GRCh37)
Canonical SPDI:: NC_000008.11:7541680:G:A
Gene:: PRR23D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.7541681G>A, NC_000008.10:g.7399203G>A, NW_018654717.1:g.5376583C>T, NT_187570.1:g.224784G>A, XM_011534716.4:c.641G>A, XM_011534716.3:c.641G>A, XM_011534716.2:c.641G>A, XM_011534716.1:c.641G>A, NM_001282479.1:c.641G>A, XP_011533018.1:p.Cys214Tyr, NP_001269408.1:p.Cys214Tyr

Select item 14807415167.

rs1480741516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:7541578 (GRCh38)
8:7399100 (GRCh37)
Canonical SPDI:: NC_000008.11:7541577:C:G
Gene:: PRR23D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.7541578C>G, NC_000008.10:g.7399100C>G, NW_018654717.1:g.5376686G>C, NT_187570.1:g.224681C>G, XM_011534716.4:c.538C>G, XM_011534716.3:c.538C>G, XM_011534716.2:c.538C>G, XM_011534716.1:c.538C>G, NM_001282479.1:c.538C>G, XP_011533018.1:p.Gln180Glu, NP_001269408.1:p.Gln180Glu

Select item 14764570498.

rs1476457049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:7541701 (GRCh38)
8:7399223 (GRCh37)
Canonical SPDI:: NC_000008.11:7541700:C:G
Gene:: PRR23D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.7541701C>G, NC_000008.10:g.7399223C>G, NW_018654717.1:g.5376563G>C, NT_187570.1:g.224804C>G, XM_011534716.4:c.661C>G, XM_011534716.3:c.661C>G, XM_011534716.2:c.661C>G, XM_011534716.1:c.661C>G, NM_001282479.1:c.661C>G, XP_011533018.1:p.Pro221Ala, NP_001269408.1:p.Pro221Ala

Select item 14742531849.

rs1474253184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:7541268 (GRCh38)
8:7398790 (GRCh37)
Canonical SPDI:: NC_000008.11:7541267:T:G
Gene:: PRR23D1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
HGVS:: NC_000008.11:g.7541268T>G, NC_000008.10:g.7398790T>G, NW_018654717.1:g.5376996A>C, NT_187570.1:g.224371T>G, XM_011534716.4:c.228T>G, XM_011534716.3:c.228T>G, XM_011534716.2:c.228T>G, XM_011534716.1:c.228T>G, NM_001282479.1:c.228T>G

Select item 146958186710.

rs1469581867 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 8:7541430 (GRCh38)
8:7398952 (GRCh37)
Canonical SPDI:: NC_000008.11:7541429:G:
Gene:: PRR23D1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7541430del, NC_000008.10:g.7398952del, NW_018654717.1:g.5376834del, NT_187570.1:g.224533del, XM_011534716.4:c.390del, XM_011534716.3:c.390del, XM_011534716.2:c.390del, XM_011534716.1:c.390del, NM_001282479.1:c.390del, XP_011533018.1:p.Gln130fs, NP_001269408.1:p.Gln130fs

Select item 146752882511.

rs1467528825 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:7541466 (GRCh38)
8:7398988 (GRCh37)
Canonical SPDI:: NC_000008.11:7541465:T:C
Gene:: PRR23D1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.7541466T>C, NC_000008.10:g.7398988T>C, NW_018654717.1:g.5376798A>G, NT_187570.1:g.224569T>C, XM_011534716.4:c.426T>C, XM_011534716.3:c.426T>C, XM_011534716.2:c.426T>C, XM_011534716.1:c.426T>C, NM_001282479.1:c.426T>C

Select item 146734529412.

rs1467345294 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:7540953 (GRCh38)
8:7398475 (GRCh37)
Canonical SPDI:: NC_000008.11:7540952:T:C
Gene:: PRR23D1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.7540953T>C, NC_000008.10:g.7398475T>C, NW_018654717.1:g.5377311A>G, NT_187570.1:g.224056T>C, XM_011534716.4:c.141T>C, XM_011534716.3:c.141T>C, XM_011534716.2:c.141T>C, XM_011534716.1:c.141T>C, NM_001282479.1:c.141T>C

Select item 146581301313.

rs1465813013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:7541368 (GRCh38)
8:7398890 (GRCh37)
Canonical SPDI:: NC_000008.11:7541367:C:G
Gene:: PRR23D1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00022/3 (ALFA)
G=0.00021/14 (GnomAD)
HGVS:: NC_000008.11:g.7541368C>G, NC_000008.10:g.7398890C>G, NW_018654717.1:g.5376896G>C, NT_187570.1:g.224471C>G, XM_011534716.4:c.328C>G, XM_011534716.3:c.328C>G, XM_011534716.2:c.328C>G, XM_011534716.1:c.328C>G, NM_001282479.1:c.328C>G, XP_011533018.1:p.Leu110Val, NP_001269408.1:p.Leu110Val

Select item 146484528114.

rs1464845281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7541401 (GRCh38)
8:7398923 (GRCh37)
Canonical SPDI:: NC_000008.11:7541400:C:T
Gene:: PRR23D1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00002/1 (GnomAD)
HGVS:: NC_000008.11:g.7541401C>T, NC_000008.10:g.7398923C>T, NW_018654717.1:g.5376863G>A, NT_187570.1:g.224504C>T, XM_011534716.4:c.361C>T, XM_011534716.3:c.361C>T, XM_011534716.2:c.361C>T, XM_011534716.1:c.361C>T, NM_001282479.1:c.361C>T, XP_011533018.1:p.His121Tyr, NP_001269408.1:p.His121Tyr

Select item 146310369615.

rs1463103696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:7541623 (GRCh38)
8:7399145 (GRCh37)
Canonical SPDI:: NC_000008.11:7541622:C:G
Gene:: PRR23D1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000008.11:g.7541623C>G, NC_000008.10:g.7399145C>G, NW_018654717.1:g.5376641G>C, NT_187570.1:g.224726C>G, XM_011534716.4:c.583C>G, XM_011534716.3:c.583C>G, XM_011534716.2:c.583C>G, XM_011534716.1:c.583C>G, NM_001282479.1:c.583C>G, XP_011533018.1:p.Pro195Ala, NP_001269408.1:p.Pro195Ala

Select item 146268631116.

rs1462686311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7541635 (GRCh38)
8:7399157 (GRCh37)
Canonical SPDI:: NC_000008.11:7541634:G:A
Gene:: PRR23D1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000008.11:g.7541635G>A, NC_000008.10:g.7399157G>A, NW_018654717.1:g.5376629C>T, NT_187570.1:g.224738G>A, XM_011534716.4:c.595G>A, XM_011534716.3:c.595G>A, XM_011534716.2:c.595G>A, XM_011534716.1:c.595G>A, NM_001282479.1:c.595G>A, XP_011533018.1:p.Val199Ile, NP_001269408.1:p.Val199Ile

Select item 146188815517.

rs1461888155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:7540964 (GRCh38)
8:7398486 (GRCh37)
Canonical SPDI:: NC_000008.11:7540963:C:G,NC_000008.11:7540963:C:T
Gene:: PRR23D1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7540964C>G, NC_000008.11:g.7540964C>T, NC_000008.10:g.7398486C>G, NC_000008.10:g.7398486C>T, NW_018654717.1:g.5377300G>C, NW_018654717.1:g.5377300G>A, NT_187570.1:g.224067C>G, NT_187570.1:g.224067C>T, XM_011534716.4:c.152C>G, XM_011534716.4:c.152C>T, XM_011534716.3:c.152C>G, XM_011534716.3:c.152C>T, XM_011534716.2:c.152C>G, XM_011534716.2:c.152C>T, XM_011534716.1:c.152C>G, XM_011534716.1:c.152C>T, NM_001282479.1:c.152C>G, NM_001282479.1:c.152C>T, XP_011533018.1:p.Pro51Arg, XP_011533018.1:p.Pro51Leu, NP_001269408.1:p.Pro51Arg, NP_001269408.1:p.Pro51Leu

Select item 145752212418.

rs1457522124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7541289 (GRCh38)
8:7398811 (GRCh37)
Canonical SPDI:: NC_000008.11:7541288:G:A
Gene:: PRR23D1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/2 (GnomAD)
HGVS:: NC_000008.11:g.7541289G>A, NC_000008.10:g.7398811G>A, NW_018654717.1:g.5376975C>T, NT_187570.1:g.224392G>A, XM_011534716.4:c.249G>A, XM_011534716.3:c.249G>A, XM_011534716.2:c.249G>A, XM_011534716.1:c.249G>A, NM_001282479.1:c.249G>A

Select item 145530106919.

rs1455301069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:7541351 (GRCh38)
8:7398873 (GRCh37)
Canonical SPDI:: NC_000008.11:7541350:C:G,NC_000008.11:7541350:C:T
Gene:: PRR23D1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
T=0.00014/2 (TOMMO)
HGVS:: NC_000008.11:g.7541351C>G, NC_000008.11:g.7541351C>T, NC_000008.10:g.7398873C>G, NC_000008.10:g.7398873C>T, NW_018654717.1:g.5376913G>C, NW_018654717.1:g.5376913G>A, NT_187570.1:g.224454C>G, NT_187570.1:g.224454C>T, XM_011534716.4:c.311C>G, XM_011534716.4:c.311C>T, XM_011534716.3:c.311C>G, XM_011534716.3:c.311C>T, XM_011534716.2:c.311C>G, XM_011534716.2:c.311C>T, XM_011534716.1:c.311C>G, XM_011534716.1:c.311C>T, NM_001282479.1:c.311C>G, NM_001282479.1:c.311C>T, XP_011533018.1:p.Thr104Arg, XP_011533018.1:p.Thr104Ile, NP_001269408.1:p.Thr104Arg, NP_001269408.1:p.Thr104Ile

Select item 145222263420.

rs1452222634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:7541463 (GRCh38)
8:7398985 (GRCh37)
Canonical SPDI:: NC_000008.11:7541462:C:A,NC_000008.11:7541462:C:T
Gene:: PRR23D1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00045/6 (ALFA)
T=0.00136/18 (GnomAD)
HGVS:: NC_000008.11:g.7541463C>A, NC_000008.11:g.7541463C>T, NC_000008.10:g.7398985C>A, NC_000008.10:g.7398985C>T, NW_018654717.1:g.5376801G>T, NW_018654717.1:g.5376801G>A, NT_187570.1:g.224566C>A, NT_187570.1:g.224566C>T, XM_011534716.4:c.423C>A, XM_011534716.4:c.423C>T, XM_011534716.3:c.423C>A, XM_011534716.3:c.423C>T, XM_011534716.2:c.423C>A, XM_011534716.2:c.423C>T, XM_011534716.1:c.423C>A, XM_011534716.1:c.423C>T, NM_001282479.1:c.423C>A, NM_001282479.1:c.423C>T

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