SNP Links for Protein (Select 4557417) - SNP

Links from Protein

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Select item 14887292521.

rs1488729252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140632090 (GRCh38)
5:140011675 (GRCh37)
Canonical SPDI:: NC_000005.10:140632089:C:T
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_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_000005.10:g.140632090C>T, NC_000005.9:g.140011675C>T, NG_023178.1:g.6612G>A, NM_000591.4:c.894G>A, NM_000591.3:c.894G>A, NM_001040021.3:c.894G>A, NM_001040021.2:c.894G>A, NM_001174104.2:c.894G>A, NM_001174104.1:c.894G>A, NM_001174105.2:c.894G>A, NM_001174105.1:c.894G>A

Select item 14884022532.

rs1488402253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140632914 (GRCh38)
5:140012499 (GRCh37)
Canonical SPDI:: NC_000005.10:140632913:G:A
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140632914G>A, NC_000005.9:g.140012499G>A, NG_023178.1:g.5788C>T, NM_000591.4:c.70C>T, NM_000591.3:c.70C>T, NM_001040021.3:c.70C>T, NM_001040021.2:c.70C>T, NM_001174104.2:c.70C>T, NM_001174104.1:c.70C>T, NM_001174105.2:c.70C>T, NM_001174105.1:c.70C>T, NP_000582.1:p.Pro24Ser, NP_001035110.1:p.Pro24Ser, NP_001167575.1:p.Pro24Ser, NP_001167576.1:p.Pro24Ser

Select item 14883667093.

rs1488366709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:140632254 (GRCh38)
5:140011839 (GRCh37)
Canonical SPDI:: NC_000005.10:140632253:G:C
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140632254G>C, NC_000005.9:g.140011839G>C, NG_023178.1:g.6448C>G, NM_000591.4:c.730C>G, NM_000591.3:c.730C>G, NM_001040021.3:c.730C>G, NM_001040021.2:c.730C>G, NM_001174104.2:c.730C>G, NM_001174104.1:c.730C>G, NM_001174105.2:c.730C>G, NM_001174105.1:c.730C>G, NP_000582.1:p.Leu244Val, NP_001035110.1:p.Leu244Val, NP_001167575.1:p.Leu244Val, NP_001167576.1:p.Leu244Val

Select item 14866834704.

rs1486683470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:140632442 (GRCh38)
5:140012027 (GRCh37)
Canonical SPDI:: NC_000005.10:140632441:T:A
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140632442T>A, NC_000005.9:g.140012027T>A, NG_023178.1:g.6260A>T, NM_000591.4:c.542A>T, NM_000591.3:c.542A>T, NM_001040021.3:c.542A>T, NM_001040021.2:c.542A>T, NM_001174104.2:c.542A>T, NM_001174104.1:c.542A>T, NM_001174105.2:c.542A>T, NM_001174105.1:c.542A>T, NP_000582.1:p.His181Leu, NP_001035110.1:p.His181Leu, NP_001167575.1:p.His181Leu, NP_001167576.1:p.His181Leu

Select item 14859550805.

rs1485955080 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:140632826 (GRCh38)
5:140012411 (GRCh37)
Canonical SPDI:: NC_000005.10:140632825:G:C
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000063/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.140632826G>C, NC_000005.9:g.140012411G>C, NG_023178.1:g.5876C>G, NM_000591.4:c.158C>G, NM_000591.3:c.158C>G, NM_001040021.3:c.158C>G, NM_001040021.2:c.158C>G, NM_001174104.2:c.158C>G, NM_001174104.1:c.158C>G, NM_001174105.2:c.158C>G, NM_001174105.1:c.158C>G, NP_000582.1:p.Ser53Cys, NP_001035110.1:p.Ser53Cys, NP_001167575.1:p.Ser53Cys, NP_001167576.1:p.Ser53Cys

Select item 14850390186.

rs1485039018 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:140632181 (GRCh38)
5:140011766 (GRCh37)
Canonical SPDI:: NC_000005.10:140632180:C:G
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_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_000005.10:g.140632181C>G, NC_000005.9:g.140011766C>G, NG_023178.1:g.6521G>C, NM_000591.4:c.803G>C, NM_000591.3:c.803G>C, NM_001040021.3:c.803G>C, NM_001040021.2:c.803G>C, NM_001174104.2:c.803G>C, NM_001174104.1:c.803G>C, NM_001174105.2:c.803G>C, NM_001174105.1:c.803G>C, NP_000582.1:p.Ser268Thr, NP_001035110.1:p.Ser268Thr, NP_001167575.1:p.Ser268Thr, NP_001167576.1:p.Ser268Thr

Select item 14809865387.

rs1480986538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:140632978 (GRCh38)
5:140012563 (GRCh37)
Canonical SPDI:: NC_000005.10:140632977:C:G,NC_000005.10:140632977:C:T
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.140632978C>G, NC_000005.10:g.140632978C>T, NC_000005.9:g.140012563C>G, NC_000005.9:g.140012563C>T, NG_023178.1:g.5724G>C, NG_023178.1:g.5724G>A, NM_000591.4:c.6G>C, NM_000591.4:c.6G>A, NM_000591.3:c.6G>C, NM_000591.3:c.6G>A, NM_001040021.3:c.6G>C, NM_001040021.3:c.6G>A, NM_001040021.2:c.6G>C, NM_001040021.2:c.6G>A, NM_001174104.2:c.6G>C, NM_001174104.2:c.6G>A, NM_001174104.1:c.6G>C, NM_001174104.1:c.6G>A, NM_001174105.2:c.6G>C, NM_001174105.2:c.6G>A, NM_001174105.1:c.6G>C, NM_001174105.1:c.6G>A, NP_000582.1:p.Glu2Asp, NP_001035110.1:p.Glu2Asp, NP_001167575.1:p.Glu2Asp, NP_001167576.1:p.Glu2Asp

Select item 14782129528.

rs1478212952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140631907 (GRCh38)
5:140011492 (GRCh37)
Canonical SPDI:: NC_000005.10:140631906:C:T
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140631907C>T, NC_000005.9:g.140011492C>T, NG_023178.1:g.6795G>A, NM_000591.4:c.1077G>A, NM_000591.3:c.1077G>A, NM_001040021.3:c.1077G>A, NM_001040021.2:c.1077G>A, NM_001174104.2:c.1077G>A, NM_001174104.1:c.1077G>A, NM_001174105.2:c.1077G>A, NM_001174105.1:c.1077G>A

Select item 14779077379.

rs1477907737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140632196 (GRCh38)
5:140011781 (GRCh37)
Canonical SPDI:: NC_000005.10:140632195:G:A
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140632196G>A, NC_000005.9:g.140011781G>A, NG_023178.1:g.6506C>T, NM_000591.4:c.788C>T, NM_000591.3:c.788C>T, NM_001040021.3:c.788C>T, NM_001040021.2:c.788C>T, NM_001174104.2:c.788C>T, NM_001174104.1:c.788C>T, NM_001174105.2:c.788C>T, NM_001174105.1:c.788C>T, NP_000582.1:p.Ala263Val, NP_001035110.1:p.Ala263Val, NP_001167575.1:p.Ala263Val, NP_001167576.1:p.Ala263Val

Select item 147439735110.

rs1474397351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:140632314 (GRCh38)
5:140011899 (GRCh37)
Canonical SPDI:: NC_000005.10:140632313:T:C
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000005.10:g.140632314T>C, NC_000005.9:g.140011899T>C, NG_023178.1:g.6388A>G, NM_000591.4:c.670A>G, NM_000591.3:c.670A>G, NM_001040021.3:c.670A>G, NM_001040021.2:c.670A>G, NM_001174104.2:c.670A>G, NM_001174104.1:c.670A>G, NM_001174105.2:c.670A>G, NM_001174105.1:c.670A>G, NP_000582.1:p.Ile224Val, NP_001035110.1:p.Ile224Val, NP_001167575.1:p.Ile224Val, NP_001167576.1:p.Ile224Val

Select item 147350234011.

rs1473502340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:140632610 (GRCh38)
5:140012195 (GRCh37)
Canonical SPDI:: NC_000005.10:140632609:T:C
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000005.10:g.140632610T>C, NC_000005.9:g.140012195T>C, NG_023178.1:g.6092A>G, NM_000591.4:c.374A>G, NM_000591.3:c.374A>G, NM_001040021.3:c.374A>G, NM_001040021.2:c.374A>G, NM_001174104.2:c.374A>G, NM_001174104.1:c.374A>G, NM_001174105.2:c.374A>G, NM_001174105.1:c.374A>G, NP_000582.1:p.Asp125Gly, NP_001035110.1:p.Asp125Gly, NP_001167575.1:p.Asp125Gly, NP_001167576.1:p.Asp125Gly

Select item 146879137012.

rs1468791370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:140632552 (GRCh38)
5:140012137 (GRCh37)
Canonical SPDI:: NC_000005.10:140632551:A:G
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140632552A>G, NC_000005.9:g.140012137A>G, NG_023178.1:g.6150T>C, NM_000591.4:c.432T>C, NM_000591.3:c.432T>C, NM_001040021.3:c.432T>C, NM_001040021.2:c.432T>C, NM_001174104.2:c.432T>C, NM_001174104.1:c.432T>C, NM_001174105.2:c.432T>C, NM_001174105.1:c.432T>C

Select item 146821746113.

rs1468217461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:140632643 (GRCh38)
5:140012228 (GRCh37)
Canonical SPDI:: NC_000005.10:140632642:G:A
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140632643G>A, NC_000005.9:g.140012228G>A, NG_023178.1:g.6059C>T, NM_000591.4:c.341C>T, NM_000591.3:c.341C>T, NM_001040021.3:c.341C>T, NM_001040021.2:c.341C>T, NM_001174104.2:c.341C>T, NM_001174104.1:c.341C>T, NM_001174105.2:c.341C>T, NM_001174105.1:c.341C>T, NP_000582.1:p.Ala114Val, NP_001035110.1:p.Ala114Val, NP_001167575.1:p.Ala114Val, NP_001167576.1:p.Ala114Val

Select item 146748662614.

rs1467486626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:140632109 (GRCh38)
5:140011694 (GRCh37)
Canonical SPDI:: NC_000005.10:140632108:G:C
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140632109G>C, NC_000005.9:g.140011694G>C, NG_023178.1:g.6593C>G, NM_000591.4:c.875C>G, NM_000591.3:c.875C>G, NM_001040021.3:c.875C>G, NM_001040021.2:c.875C>G, NM_001174104.2:c.875C>G, NM_001174104.1:c.875C>G, NM_001174105.2:c.875C>G, NM_001174105.1:c.875C>G, NP_000582.1:p.Pro292Arg, NP_001035110.1:p.Pro292Arg, NP_001167575.1:p.Pro292Arg, NP_001167576.1:p.Pro292Arg

Select item 146632874215.

rs1466328742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:140631965 (GRCh38)
5:140011550 (GRCh37)
Canonical SPDI:: NC_000005.10:140631964:T:C
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.140631965T>C, NC_000005.9:g.140011550T>C, NG_023178.1:g.6737A>G, NM_000591.4:c.1019A>G, NM_000591.3:c.1019A>G, NM_001040021.3:c.1019A>G, NM_001040021.2:c.1019A>G, NM_001174104.2:c.1019A>G, NM_001174104.1:c.1019A>G, NM_001174105.2:c.1019A>G, NM_001174105.1:c.1019A>G, NP_000582.1:p.His340Arg, NP_001035110.1:p.His340Arg, NP_001167575.1:p.His340Arg, NP_001167576.1:p.His340Arg

Select item 146085194516.

rs1460851945 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:140632202 (GRCh38)
5:140011787 (GRCh37)
Canonical SPDI:: NC_000005.10:140632201:A:C
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.140632202A>C, NC_000005.9:g.140011787A>C, NG_023178.1:g.6500T>G, NM_000591.4:c.782T>G, NM_000591.3:c.782T>G, NM_001040021.3:c.782T>G, NM_001040021.2:c.782T>G, NM_001174104.2:c.782T>G, NM_001174104.1:c.782T>G, NM_001174105.2:c.782T>G, NM_001174105.1:c.782T>G, NP_000582.1:p.Leu261Arg, NP_001035110.1:p.Leu261Arg, NP_001167575.1:p.Leu261Arg, NP_001167576.1:p.Leu261Arg

Select item 146079913617.

rs1460799136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140632234 (GRCh38)
5:140011819 (GRCh37)
Canonical SPDI:: NC_000005.10:140632233:C:T
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.140632234C>T, NC_000005.9:g.140011819C>T, NG_023178.1:g.6468G>A, NM_000591.4:c.750G>A, NM_000591.3:c.750G>A, NM_001040021.3:c.750G>A, NM_001040021.2:c.750G>A, NM_001174104.2:c.750G>A, NM_001174104.1:c.750G>A, NM_001174105.2:c.750G>A, NM_001174105.1:c.750G>A

Select item 146061509818.

rs1460615098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:140632652 (GRCh38)
5:140012237 (GRCh37)
Canonical SPDI:: NC_000005.10:140632651:C:G,NC_000005.10:140632651:C:T
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.140632652C>G, NC_000005.10:g.140632652C>T, NC_000005.9:g.140012237C>G, NC_000005.9:g.140012237C>T, NG_023178.1:g.6050G>C, NG_023178.1:g.6050G>A, NM_000591.4:c.332G>C, NM_000591.4:c.332G>A, NM_000591.3:c.332G>C, NM_000591.3:c.332G>A, NM_001040021.3:c.332G>C, NM_001040021.3:c.332G>A, NM_001040021.2:c.332G>C, NM_001040021.2:c.332G>A, NM_001174104.2:c.332G>C, NM_001174104.2:c.332G>A, NM_001174104.1:c.332G>C, NM_001174104.1:c.332G>A, NM_001174105.2:c.332G>C, NM_001174105.2:c.332G>A, NM_001174105.1:c.332G>C, NM_001174105.1:c.332G>A, NP_000582.1:p.Arg111Pro, NP_000582.1:p.Arg111His, NP_001035110.1:p.Arg111Pro, NP_001035110.1:p.Arg111His, NP_001167575.1:p.Arg111Pro, NP_001167575.1:p.Arg111His, NP_001167576.1:p.Arg111Pro, NP_001167576.1:p.Arg111His

Select item 145972341419.

rs1459723414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:140632369 (GRCh38)
5:140011954 (GRCh37)
Canonical SPDI:: NC_000005.10:140632368:A:C
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.140632369A>C, NC_000005.9:g.140011954A>C, NG_023178.1:g.6333T>G, NM_000591.4:c.615T>G, NM_000591.3:c.615T>G, NM_001040021.3:c.615T>G, NM_001040021.2:c.615T>G, NM_001174104.2:c.615T>G, NM_001174104.1:c.615T>G, NM_001174105.2:c.615T>G, NM_001174105.1:c.615T>G

Select item 145897507620.

rs1458975076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140631975 (GRCh38)
5:140011560 (GRCh37)
Canonical SPDI:: NC_000005.10:140631974:C:T
Gene:: CD14 (Varview), TMCO6 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140631975C>T, NC_000005.9:g.140011560C>T, NG_023178.1:g.6727G>A, NM_000591.4:c.1009G>A, NM_000591.3:c.1009G>A, NM_001040021.3:c.1009G>A, NM_001040021.2:c.1009G>A, NM_001174104.2:c.1009G>A, NM_001174104.1:c.1009G>A, NM_001174105.2:c.1009G>A, NM_001174105.1:c.1009G>A, NP_000582.1:p.Ala337Thr, NP_001035110.1:p.Ala337Thr, NP_001167575.1:p.Ala337Thr, NP_001167576.1:p.Ala337Thr

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