SNP Links for Protein (Select 116812597) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57776644 (GRCh38)
19:58288012 (GRCh37)
Canonical SPDI:: NC_000019.10:57776643:G:A
Gene:: ZNF586 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57776644G>A, NC_000019.9:g.58288012G>A, NM_017652.4:c.138G>A, NM_017652.3:c.138G>A, NM_001204814.2:c.9G>A, NM_001204814.1:c.9G>A

Select item 14780207427.

rs1478020742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:57778937 (GRCh38)
19:58290305 (GRCh37)
Canonical SPDI:: NC_000019.10:57778936:C:G
Gene:: ZNF586 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57778937C>G, NC_000019.9:g.58290305C>G, NM_017652.4:c.350C>G, NM_017652.3:c.350C>G, NM_001077426.3:c.223C>G, NM_001077426.2:c.223C>G, NM_001204814.2:c.221C>G, NM_001204814.1:c.221C>G, NP_060122.2:p.Thr117Ser, NP_001070894.1:p.Leu75Val, NP_001191743.1:p.Thr74Ser

Select item 14744135938.

rs1474413593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57779135 (GRCh38)
19:58290503 (GRCh37)
Canonical SPDI:: NC_000019.10:57779134:G:A
Gene:: ZNF586 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57779135G>A, NC_000019.9:g.58290503G>A, NM_017652.4:c.548G>A, NM_017652.3:c.548G>A, NM_001077426.3:c.421G>A, NM_001077426.2:c.421G>A, NM_001204814.2:c.419G>A, NM_001204814.1:c.419G>A, NP_060122.2:p.Cys183Tyr, NP_001070894.1:p.Val141Met, NP_001191743.1:p.Cys140Tyr

Select item 14728104409.

rs1472810440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:57776554 (GRCh38)
19:58287922 (GRCh37)
Canonical SPDI:: NC_000019.10:57776553:C:G
Gene:: ZNF586 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57776554C>G, NC_000019.9:g.58287922C>G, NM_017652.4:c.48C>G, NM_017652.3:c.48C>G, NM_001204814.2:c.-82C>G, NM_001204814.1:c.-82C>G

Select item 147238793410.

rs1472387934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57779045 (GRCh38)
19:58290413 (GRCh37)
Canonical SPDI:: NC_000019.10:57779044:G:A
Gene:: ZNF586 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57779045G>A, NC_000019.9:g.58290413G>A, NM_017652.4:c.458G>A, NM_017652.3:c.458G>A, NM_001077426.3:c.331G>A, NM_001077426.2:c.331G>A, NM_001204814.2:c.329G>A, NM_001204814.1:c.329G>A, NP_060122.2:p.Ser153Asn, NP_001070894.1:p.Val111Met, NP_001191743.1:p.Ser110Asn

Select item 147186188611.

rs1471861886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57778925 (GRCh38)
19:58290293 (GRCh37)
Canonical SPDI:: NC_000019.10:57778924:G:A
Gene:: ZNF586 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57778925G>A, NC_000019.9:g.58290293G>A, NM_017652.4:c.338G>A, NM_017652.3:c.338G>A, NM_001077426.3:c.211G>A, NM_001077426.2:c.211G>A, NM_001204814.2:c.209G>A, NM_001204814.1:c.209G>A, NP_060122.2:p.Arg113Lys, NP_001070894.1:p.Gly71Arg, NP_001191743.1:p.Arg70Lys

Select item 147039265512.

rs1470392655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:57779492 (GRCh38)
19:58290860 (GRCh37)
Canonical SPDI:: NC_000019.10:57779491:G:T
Gene:: ZNF586 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57779492G>T, NC_000019.9:g.58290860G>T, NM_017652.4:c.905G>T, NM_017652.3:c.905G>T, NM_001077426.3:c.*145G>T, NM_001077426.2:c.*145G>T, NM_001204814.2:c.776G>T, NM_001204814.1:c.776G>T, NP_060122.2:p.Arg302Met, NP_001191743.1:p.Arg259Met

Select item 146401927513.

rs1464019275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:57776652 (GRCh38)
19:58288020 (GRCh37)
Canonical SPDI:: NC_000019.10:57776651:C:A
Gene:: ZNF586 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57776652C>A, NC_000019.9:g.58288020C>A, NM_017652.4:c.146C>A, NM_017652.3:c.146C>A, NM_001204814.2:c.17C>A, NM_001204814.1:c.17C>A, NP_060122.2:p.Thr49Lys, NP_001191743.1:p.Thr6Lys

Select item 146189084614.

rs1461890846 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57779055 (GRCh38)
19:58290423 (GRCh37)
Canonical SPDI:: NC_000019.10:57779054:A:G
Gene:: ZNF586 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57779055A>G, NC_000019.9:g.58290423A>G, NM_017652.4:c.468A>G, NM_017652.3:c.468A>G, NM_001077426.3:c.341A>G, NM_001077426.2:c.341A>G, NM_001204814.2:c.339A>G, NM_001204814.1:c.339A>G, NP_001070894.1:p.Glu114Gly

Select item 145968769015.

rs1459687690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57778766 (GRCh38)
19:58290134 (GRCh37)
Canonical SPDI:: NC_000019.10:57778765:G:A
Gene:: ZNF586 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.57778766G>A, NC_000019.9:g.58290134G>A, NM_017652.4:c.179G>A, NM_017652.3:c.179G>A, NM_001077426.3:c.52G>A, NM_001077426.2:c.52G>A, NM_001204814.2:c.50G>A, NM_001204814.1:c.50G>A, NP_060122.2:p.Gly60Glu, NP_001070894.1:p.Gly18Arg, NP_001191743.1:p.Gly17Glu

Select item 145522782216.

rs1455227822 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57779587 (GRCh38)
19:58290955 (GRCh37)
Canonical SPDI:: NC_000019.10:57779586:A:G
Gene:: ZNF586 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57779587A>G, NC_000019.9:g.58290955A>G, NM_017652.4:c.1000A>G, NM_017652.3:c.1000A>G, NM_001077426.3:c.*240A>G, NM_001077426.2:c.*240A>G, NM_001204814.2:c.871A>G, NM_001204814.1:c.871A>G, NP_060122.2:p.Ile334Val, NP_001191743.1:p.Ile291Val

Select item 144603728417.

rs1446037284 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGCGAAC [Show Flanks]
Chromosome:: 19:57778942 (GRCh38)
19:58290311 (GRCh37)
Canonical SPDI:: NC_000019.10:57778942::TGCGAAC
Gene:: ZNF586 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TGCGAAC=0./0 (ALFA)
TGCGAAC=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57778942_57778943insTGCGAAC, NC_000019.9:g.58290310_58290311insTGCGAAC, NM_017652.4:c.355_356insTGCGAAC, NM_017652.3:c.355_356insTGCGAAC, NM_001077426.3:c.228_229insTGCGAAC, NM_001077426.2:c.228_229insTGCGAAC, NM_001204814.2:c.226_227insTGCGAAC, NM_001204814.1:c.226_227insTGCGAAC, NP_060122.2:p.Glu119fs, NP_001070894.1:p.Lys77fs, NP_001191743.1:p.Glu76fs

Select item 144520505718.

rs1445205057 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:57779215 (GRCh38)
19:58290583 (GRCh37)
Canonical SPDI:: NC_000019.10:57779214:G:
Gene:: ZNF586 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
-=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.57779215del, NC_000019.9:g.58290583del, NM_017652.4:c.628del, NM_017652.3:c.628del, NM_001077426.3:c.501del, NM_001077426.2:c.501del, NM_001204814.2:c.499del, NM_001204814.1:c.499del, NP_060122.2:p.Glu210fs, NP_001070894.1:p.Met167fs, NP_001191743.1:p.Glu167fs

Select item 144421558619.

rs1444215586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57779784 (GRCh38)
19:58291152 (GRCh37)
Canonical SPDI:: NC_000019.10:57779783:G:A
Gene:: ZNF586 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57779784G>A, NC_000019.9:g.58291152G>A, NM_017652.4:c.1197G>A, NM_017652.3:c.1197G>A, NM_001077426.3:c.*437G>A, NM_001077426.2:c.*437G>A, NM_001204814.2:c.1068G>A, NM_001204814.1:c.1068G>A

Select item 144325096820.

rs1443250968 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:57779407 (GRCh38)
19:58290775 (GRCh37)
Canonical SPDI:: NC_000019.10:57779406:A:C
Gene:: ZNF586 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57779407A>C, NC_000019.9:g.58290775A>C, NM_017652.4:c.820A>C, NM_017652.3:c.820A>C, NM_001077426.3:c.*60A>C, NM_001077426.2:c.*60A>C, NM_001204814.2:c.691A>C, NM_001204814.1:c.691A>C, NP_060122.2:p.Ser274Arg, NP_001191743.1:p.Ser231Arg

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