SNP Links for Protein (Select 381214351) - SNP

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:232343458 (GRCh38)
2:233208168 (GRCh37)
Canonical SPDI:: NC_000002.12:232343457:A:C
Gene:: DIS3L2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.232343458A>C, NC_000002.11:g.233208168A>C, NG_006644.3:g.530A>C, NG_032572.1:g.386876A>C, NM_001257281.2:c.1695A>C, NM_001257281.1:c.1695A>C

Select item 14823506666.

rs1482350666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232136590 (GRCh38)
2:233001300 (GRCh37)
Canonical SPDI:: NC_000002.12:232136589:G:A
Gene:: DIS3L2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232136590G>A, NC_000002.11:g.233001300G>A, NG_032572.1:g.180008G>A, NM_152383.5:c.821G>A, NM_152383.4:c.821G>A, NR_046476.2:n.967G>A, NR_046476.1:n.1097G>A, NM_001257281.2:c.821G>A, NM_001257281.1:c.821G>A, NP_689596.4:p.Arg274Gln, NP_001244210.1:p.Arg274Gln

Select item 14817721597.

rs1481772159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232343420 (GRCh38)
2:233208130 (GRCh37)
Canonical SPDI:: NC_000002.12:232343419:C:T
Gene:: DIS3L2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.232343420C>T, NC_000002.11:g.233208130C>T, NG_006644.3:g.492C>T, NG_032572.1:g.386838C>T, NM_001257281.2:c.1657C>T, NM_001257281.1:c.1657C>T, NP_001244210.1:p.Pro553Ser

Select item 14813025898.

rs1481302589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232130665 (GRCh38)
2:232995375 (GRCh37)
Canonical SPDI:: NC_000002.12:232130664:C:T
Gene:: DIS3L2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232130665C>T, NC_000002.11:g.232995375C>T, NG_032572.1:g.174083C>T, NM_152383.5:c.648C>T, NM_152383.4:c.648C>T, NR_046477.2:n.794C>T, NR_046477.1:n.924C>T, NR_046476.2:n.794C>T, NR_046476.1:n.924C>T, NM_001257281.2:c.648C>T, NM_001257281.1:c.648C>T, NM_001257282.2:c.648C>T, NM_001257282.1:c.648C>T

Select item 14785694689.

rs1478569468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:232087604 (GRCh38)
2:232952314 (GRCh37)
Canonical SPDI:: NC_000002.12:232087603:C:A,NC_000002.12:232087603:C:T
Gene:: DIS3L2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232087604C>A, NC_000002.12:g.232087604C>T, NC_000002.11:g.232952314C>A, NC_000002.11:g.232952314C>T, NG_032572.1:g.131022C>A, NG_032572.1:g.131022C>T, NM_152383.5:c.484C>A, NM_152383.5:c.484C>T, NM_152383.4:c.484C>A, NM_152383.4:c.484C>T, NR_046477.2:n.630C>A, NR_046477.2:n.630C>T, NR_046477.1:n.760C>A, NR_046477.1:n.760C>T, NR_046476.2:n.630C>A, NR_046476.2:n.630C>T, NR_046476.1:n.760C>A, NR_046476.1:n.760C>T, NM_001257281.2:c.484C>A, NM_001257281.2:c.484C>T, NM_001257281.1:c.484C>A, NM_001257281.1:c.484C>T, NM_001257282.2:c.484C>A, NM_001257282.2:c.484C>T, NM_001257282.1:c.484C>A, NM_001257282.1:c.484C>T, NP_689596.4:p.Pro162Thr, NP_689596.4:p.Pro162Ser, NP_001244210.1:p.Pro162Thr, NP_001244210.1:p.Pro162Ser, NP_001244211.1:p.Pro162Thr, NP_001244211.1:p.Pro162Ser

Select item 147660202910.

rs1476602029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232015542 (GRCh38)
2:232880252 (GRCh37)
Canonical SPDI:: NC_000002.12:232015541:C:T
Gene:: DIS3L2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232015542C>T, NC_000002.11:g.232880252C>T, NG_032572.1:g.58960C>T, NM_152383.5:c.81C>T, NM_152383.4:c.81C>T, NR_046477.2:n.227C>T, NR_046477.1:n.357C>T, NR_046476.2:n.227C>T, NR_046476.1:n.357C>T, NM_001257281.2:c.81C>T, NM_001257281.1:c.81C>T, NM_001257282.2:c.81C>T, NM_001257282.1:c.81C>T

Select item 147627873011.

rs1476278730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232263334 (GRCh38)
2:233128044 (GRCh37)
Canonical SPDI:: NC_000002.12:232263333:C:T
Gene:: DIS3L2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.232263334C>T, NC_000002.11:g.233128044C>T, NG_032572.1:g.306752C>T, NM_152383.5:c.1553C>T, NM_152383.4:c.1553C>T, NR_046477.2:n.1675C>T, NR_046477.1:n.1805C>T, NR_046476.2:n.1699C>T, NR_046476.1:n.1829C>T, NM_001257281.2:c.1553C>T, NM_001257281.1:c.1553C>T, NP_689596.4:p.Pro518Leu, NP_001244210.1:p.Pro518Leu

Select item 147592884512.

rs1475928845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:232263265 (GRCh38)
2:233127975 (GRCh37)
Canonical SPDI:: NC_000002.12:232263264:A:G
Gene:: DIS3L2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232263265A>G, NC_000002.11:g.233127975A>G, NG_032572.1:g.306683A>G, NM_152383.5:c.1484A>G, NM_152383.4:c.1484A>G, NR_046477.2:n.1606A>G, NR_046477.1:n.1736A>G, NR_046476.2:n.1630A>G, NR_046476.1:n.1760A>G, NM_001257281.2:c.1484A>G, NM_001257281.1:c.1484A>G, NP_689596.4:p.Glu495Gly, NP_001244210.1:p.Glu495Gly

Select item 147195802913.

rs1471958029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:232163546 (GRCh38)
2:233028256 (GRCh37)
Canonical SPDI:: NC_000002.12:232163545:T:C
Gene:: DIS3L2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.232163546T>C, NC_000002.11:g.233028256T>C, NG_032572.1:g.206964T>C, NM_152383.5:c.1038T>C, NM_152383.4:c.1038T>C, NR_046477.2:n.1160T>C, NR_046477.1:n.1290T>C, NR_046476.2:n.1184T>C, NR_046476.1:n.1314T>C, NM_001257281.2:c.1038T>C, NM_001257281.1:c.1038T>C

Select item 147163320014.

rs1471633200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:232087607 (GRCh38)
2:232952317 (GRCh37)
Canonical SPDI:: NC_000002.12:232087606:G:C
Gene:: DIS3L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.232087607G>C, NC_000002.11:g.232952317G>C, NG_032572.1:g.131025G>C, NM_152383.5:c.487G>C, NM_152383.4:c.487G>C, NR_046477.2:n.633G>C, NR_046477.1:n.763G>C, NR_046476.2:n.633G>C, NR_046476.1:n.763G>C, NM_001257281.2:c.487G>C, NM_001257281.1:c.487G>C, NM_001257282.2:c.487G>C, NM_001257282.1:c.487G>C, NP_689596.4:p.Asp163His, NP_001244210.1:p.Asp163His, NP_001244211.1:p.Asp163His

Select item 147147099515.

rs1471470995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:232343479 (GRCh38)
2:233208189 (GRCh37)
Canonical SPDI:: NC_000002.12:232343478:A:G
Gene:: DIS3L2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.232343479A>G, NC_000002.11:g.233208189A>G, NG_006644.3:g.551A>G, NG_032572.1:g.386897A>G, NM_001257281.2:c.1716A>G, NM_001257281.1:c.1716A>G

Select item 147050880616.

rs1470508806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:232014956 (GRCh38)
2:232879666 (GRCh37)
Canonical SPDI:: NC_000002.12:232014955:T:C
Gene:: DIS3L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232014956T>C, NC_000002.11:g.232879666T>C, NG_032572.1:g.58374T>C, NM_152383.5:c.29T>C, NM_152383.4:c.29T>C, NR_046477.2:n.175T>C, NR_046477.1:n.305T>C, NR_046476.2:n.175T>C, NR_046476.1:n.305T>C, NM_001257281.2:c.29T>C, NM_001257281.1:c.29T>C, NM_001257282.2:c.29T>C, NM_001257282.1:c.29T>C, NP_689596.4:p.Leu10Pro, NP_001244210.1:p.Leu10Pro, NP_001244211.1:p.Leu10Pro

Select item 147034211417.

rs1470342114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232249342 (GRCh38)
2:233114052 (GRCh37)
Canonical SPDI:: NC_000002.12:232249341:G:A
Gene:: DIS3L2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232249342G>A, NC_000002.11:g.233114052G>A, NG_032572.1:g.292760G>A, NM_152383.5:c.1421G>A, NM_152383.4:c.1421G>A, NR_046477.2:n.1543G>A, NR_046477.1:n.1673G>A, NR_046476.2:n.1567G>A, NR_046476.1:n.1697G>A, NM_001257281.2:c.1421G>A, NM_001257281.1:c.1421G>A, NP_689596.4:p.Gly474Asp, NP_001244210.1:p.Gly474Asp

Select item 146820666618.

rs1468206666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:232343378 (GRCh38)
2:233208088 (GRCh37)
Canonical SPDI:: NC_000002.12:232343377:C:G
Gene:: DIS3L2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232343378C>G, NC_000002.11:g.233208088C>G, NG_006644.3:g.450C>G, NG_032572.1:g.386796C>G, NM_001257281.2:c.1615C>G, NM_001257281.1:c.1615C>G, NP_001244210.1:p.Gln539Glu

Select item 146632290419.

rs1466322904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:232249250 (GRCh38)
2:233113960 (GRCh37)
Canonical SPDI:: NC_000002.12:232249249:G:A,NC_000002.12:232249249:G:C
Gene:: DIS3L2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232249250G>A, NC_000002.12:g.232249250G>C, NC_000002.11:g.233113960G>A, NC_000002.11:g.233113960G>C, NG_032572.1:g.292668G>A, NG_032572.1:g.292668G>C, NM_152383.5:c.1329G>A, NM_152383.5:c.1329G>C, NM_152383.4:c.1329G>A, NM_152383.4:c.1329G>C, NR_046477.2:n.1451G>A, NR_046477.2:n.1451G>C, NR_046477.1:n.1581G>A, NR_046477.1:n.1581G>C, NR_046476.2:n.1475G>A, NR_046476.2:n.1475G>C, NR_046476.1:n.1605G>A, NR_046476.1:n.1605G>C, NM_001257281.2:c.1329G>A, NM_001257281.2:c.1329G>C, NM_001257281.1:c.1329G>A, NM_001257281.1:c.1329G>C, NP_689596.4:p.Met443Ile, NP_689596.4:p.Met443Ile, NP_001244210.1:p.Met443Ile, NP_001244210.1:p.Met443Ile

Select item 146361131820.

rs1463611318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232087536 (GRCh38)
2:232952246 (GRCh37)
Canonical SPDI:: NC_000002.12:232087535:C:T
Gene:: DIS3L2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.232087536C>T, NC_000002.11:g.232952246C>T, NG_032572.1:g.130954C>T, NM_152383.5:c.416C>T, NM_152383.4:c.416C>T, NR_046477.2:n.562C>T, NR_046477.1:n.692C>T, NR_046476.2:n.562C>T, NR_046476.1:n.692C>T, NM_001257281.2:c.416C>T, NM_001257281.1:c.416C>T, NM_001257282.2:c.416C>T, NM_001257282.1:c.416C>T, NP_689596.4:p.Ser139Leu, NP_001244210.1:p.Ser139Leu, NP_001244211.1:p.Ser139Leu

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