SNP Links for Protein (Select 576583534) - SNP

Links from Protein

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Select item 14875663601.

rs1487566360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:107916825 (GRCh38)
7:107557270 (GRCh37)
Canonical SPDI:: NC_000007.14:107916824:G:A,NC_000007.14:107916824:G:C
Gene:: DLD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.107916825G>A, NC_000007.14:g.107916825G>C, NC_000007.13:g.107557270G>A, NC_000007.13:g.107557270G>C, NG_008045.1:g.30685G>A, NG_008045.1:g.30685G>C, NM_000108.5:c.907G>A, NM_000108.5:c.907G>C, NM_000108.4:c.907G>A, NM_000108.4:c.907G>C, NM_000108.3:c.907G>A, NM_000108.3:c.907G>C, NM_001289751.1:c.838G>A, NM_001289751.1:c.838G>C, NM_001289752.1:c.763G>A, NM_001289752.1:c.763G>C, NM_001289750.1:c.610G>A, NM_001289750.1:c.610G>C, NP_000099.2:p.Val303Ile, NP_000099.2:p.Val303Leu, NP_001276680.1:p.Val280Ile, NP_001276680.1:p.Val280Leu, NP_001276681.1:p.Val255Ile, NP_001276681.1:p.Val255Leu, NP_001276679.1:p.Val204Ile, NP_001276679.1:p.Val204Leu

Select item 14844410612.

rs1484441061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:107905467 (GRCh38)
7:107545912 (GRCh37)
Canonical SPDI:: NC_000007.14:107905466:C:T
Gene:: DLD (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.107905467C>T, NC_000007.13:g.107545912C>T, NG_008045.1:g.19327C>T, NM_000108.5:c.545C>T, NM_000108.4:c.545C>T, NM_000108.3:c.545C>T, NM_001289751.1:c.476C>T, NM_001289750.1:c.248C>T, NP_000099.2:p.Ala182Val, NP_001276680.1:p.Ala159Val, NP_001276679.1:p.Ala83Val

Select item 14823574413.

rs1482357441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:107917393 (GRCh38)
7:107557838 (GRCh37)
Canonical SPDI:: NC_000007.14:107917392:G:T
Gene:: DLD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.107917393G>T, NC_000007.13:g.107557838G>T, NG_008045.1:g.31253G>T, NM_000108.5:c.1167G>T, NM_000108.4:c.1167G>T, NM_000108.3:c.1167G>T, NM_001289751.1:c.1098G>T, NM_001289752.1:c.1023G>T, NM_001289750.1:c.870G>T

Select item 14798748324.

rs1479874832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:107916894 (GRCh38)
7:107557339 (GRCh37)
Canonical SPDI:: NC_000007.14:107916893:G:A
Gene:: DLD (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_000007.14:g.107916894G>A, NC_000007.13:g.107557339G>A, NG_008045.1:g.30754G>A, NM_000108.5:c.976G>A, NM_000108.4:c.976G>A, NM_000108.3:c.976G>A, NM_001289751.1:c.907G>A, NM_001289752.1:c.832G>A, NM_001289750.1:c.679G>A, NP_000099.2:p.Glu326Lys, NP_001276680.1:p.Glu303Lys, NP_001276681.1:p.Glu278Lys, NP_001276679.1:p.Glu227Lys

Select item 14766461165.

rs1476646116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:107915680 (GRCh38)
7:107556125 (GRCh37)
Canonical SPDI:: NC_000007.14:107915679:G:A
Gene:: DLD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.107915680G>A, NC_000007.13:g.107556125G>A, NG_008045.1:g.29540G>A, NM_000108.5:c.859G>A, NM_000108.4:c.859G>A, NM_000108.3:c.859G>A, NM_001289751.1:c.790G>A, NM_001289752.1:c.715G>A, NM_001289750.1:c.562G>A, NP_000099.2:p.Gly287Arg, NP_001276680.1:p.Gly264Arg, NP_001276681.1:p.Gly239Arg, NP_001276679.1:p.Gly188Arg

Select item 14662901306.

rs1466290130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:107916819 (GRCh38)
7:107557264 (GRCh37)
Canonical SPDI:: NC_000007.14:107916818:G:A
Gene:: DLD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000007.14:g.107916819G>A, NC_000007.13:g.107557264G>A, NG_008045.1:g.30679G>A, NM_000108.5:c.901G>A, NM_000108.4:c.901G>A, NM_000108.3:c.901G>A, NM_001289751.1:c.832G>A, NM_001289752.1:c.757G>A, NM_001289750.1:c.604G>A, NP_000099.2:p.Ala301Thr, NP_001276680.1:p.Ala278Thr, NP_001276681.1:p.Ala253Thr, NP_001276679.1:p.Ala202Thr

Select item 14662835117.

rs1466283511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:107917942 (GRCh38)
7:107558387 (GRCh37)
Canonical SPDI:: NC_000007.14:107917941:G:T
Gene:: DLD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.107917942G>T, NC_000007.13:g.107558387G>T, NG_008045.1:g.31802G>T, NM_000108.5:c.1255G>T, NM_000108.4:c.1255G>T, NM_000108.3:c.1255G>T, NM_001289751.1:c.1186G>T, NM_001289752.1:c.1111G>T, NM_001289750.1:c.958G>T, NP_000099.2:p.Gly419Trp, NP_001276680.1:p.Gly396Trp, NP_001276681.1:p.Gly371Trp, NP_001276679.1:p.Gly320Trp

Select item 14617711598.

rs1461771159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:107915536 (GRCh38)
7:107555981 (GRCh37)
Canonical SPDI:: NC_000007.14:107915535:G:A
Gene:: DLD (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000007.14:g.107915536G>A, NC_000007.13:g.107555981G>A, NG_008045.1:g.29396G>A, NM_000108.5:c.715G>A, NM_000108.4:c.715G>A, NM_000108.3:c.715G>A, NM_001289751.1:c.646G>A, NM_001289752.1:c.571G>A, NM_001289750.1:c.418G>A, NP_000099.2:p.Val239Met, NP_001276680.1:p.Val216Met, NP_001276681.1:p.Val191Met, NP_001276679.1:p.Val140Met

Select item 14615686009.

rs1461568600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:107917965 (GRCh38)
7:107558410 (GRCh37)
Canonical SPDI:: NC_000007.14:107917964:C:T
Gene:: DLD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000007.14:g.107917965C>T, NC_000007.13:g.107558410C>T, NG_008045.1:g.31825C>T, NM_000108.5:c.1278C>T, NM_000108.4:c.1278C>T, NM_000108.3:c.1278C>T, NM_001289751.1:c.1209C>T, NM_001289752.1:c.1134C>T, NM_001289750.1:c.981C>T

Select item 145718838510.

rs1457188385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:107915657 (GRCh38)
7:107556102 (GRCh37)
Canonical SPDI:: NC_000007.14:107915656:C:G
Gene:: DLD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.107915657C>G, NC_000007.13:g.107556102C>G, NG_008045.1:g.29517C>G, NM_000108.5:c.836C>G, NM_000108.4:c.836C>G, NM_000108.3:c.836C>G, NM_001289751.1:c.767C>G, NM_001289752.1:c.692C>G, NM_001289750.1:c.539C>G, NP_000099.2:p.Thr279Ser, NP_001276680.1:p.Thr256Ser, NP_001276681.1:p.Thr231Ser, NP_001276679.1:p.Thr180Ser

Select item 145445568711.

rs1454455687 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:107905378 (GRCh38)
7:107545823 (GRCh37)
Canonical SPDI:: NC_000007.14:107905377:A:G
Gene:: DLD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.107905378A>G, NC_000007.13:g.107545823A>G, NG_008045.1:g.19238A>G, NM_000108.5:c.456A>G, NM_000108.4:c.456A>G, NM_000108.3:c.456A>G, NM_001289751.1:c.387A>G, NM_001289750.1:c.159A>G

Select item 145326855612.

rs1453268556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:107917957 (GRCh38)
7:107558402 (GRCh37)
Canonical SPDI:: NC_000007.14:107917956:G:A
Gene:: DLD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.107917957G>A, NC_000007.13:g.107558402G>A, NG_008045.1:g.31817G>A, NM_000108.5:c.1270G>A, NM_000108.4:c.1270G>A, NM_000108.3:c.1270G>A, NM_001289751.1:c.1201G>A, NM_001289752.1:c.1126G>A, NM_001289750.1:c.973G>A, NP_000099.2:p.Ala424Thr, NP_001276680.1:p.Ala401Thr, NP_001276681.1:p.Ala376Thr, NP_001276679.1:p.Ala325Thr

Select item 145104558613.

rs1451045586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:107918014 (GRCh38)
7:107558459 (GRCh37)
Canonical SPDI:: NC_000007.14:107918013:G:A
Gene:: DLD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.107918014G>A, NC_000007.13:g.107558459G>A, NG_008045.1:g.31874G>A, NM_000108.5:c.1327G>A, NM_000108.4:c.1327G>A, NM_000108.3:c.1327G>A, NM_001289751.1:c.1258G>A, NM_001289752.1:c.1183G>A, NM_001289750.1:c.1030G>A, NP_000099.2:p.Gly443Arg, NP_001276680.1:p.Gly420Arg, NP_001276681.1:p.Gly395Arg, NP_001276679.1:p.Gly344Arg

Select item 144982292414.

rs1449822924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:107917343 (GRCh38)
7:107557788 (GRCh37)
Canonical SPDI:: NC_000007.14:107917342:T:G
Gene:: DLD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.107917343T>G, NC_000007.13:g.107557788T>G, NG_008045.1:g.31203T>G, NM_000108.5:c.1117T>G, NM_000108.4:c.1117T>G, NM_000108.3:c.1117T>G, NM_001289751.1:c.1048T>G, NM_001289752.1:c.973T>G, NM_001289750.1:c.820T>G, NP_000099.2:p.Cys373Gly, NP_001276680.1:p.Cys350Gly, NP_001276681.1:p.Cys325Gly, NP_001276679.1:p.Cys274Gly

Select item 144866491915.

rs1448664919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:107919027 (GRCh38)
7:107559472 (GRCh37)
Canonical SPDI:: NC_000007.14:107919026:A:T
Gene:: DLD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.107919027A>T, NC_000007.13:g.107559472A>T, NG_008045.1:g.32887A>T, NM_000108.5:c.1392A>T, NM_000108.4:c.1392A>T, NM_000108.3:c.1392A>T, NM_001289751.1:c.1323A>T, NM_001289752.1:c.1248A>T, NM_001289750.1:c.1095A>T

Select item 144658848216.

rs1446588482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:107916963 (GRCh38)
7:107557408 (GRCh37)
Canonical SPDI:: NC_000007.14:107916962:A:C
Gene:: DLD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.107916963A>C, NC_000007.13:g.107557408A>C, NG_008045.1:g.30823A>C, NM_000108.5:c.1045A>C, NM_000108.4:c.1045A>C, NM_000108.3:c.1045A>C, NM_001289751.1:c.976A>C, NM_001289752.1:c.901A>C, NM_001289750.1:c.748A>C, NP_000099.2:p.Asn349His, NP_001276680.1:p.Asn326His, NP_001276681.1:p.Asn301His, NP_001276679.1:p.Asn250His

Select item 144488353317.

rs1444883533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:107915548 (GRCh38)
7:107555993 (GRCh37)
Canonical SPDI:: NC_000007.14:107915547:G:C
Gene:: DLD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.107915548G>C, NC_000007.13:g.107555993G>C, NG_008045.1:g.29408G>C, NM_000108.5:c.727G>C, NM_000108.4:c.727G>C, NM_000108.3:c.727G>C, NM_001289751.1:c.658G>C, NM_001289752.1:c.583G>C, NM_001289750.1:c.430G>C, NP_000099.2:p.Glu243Gln, NP_001276680.1:p.Glu220Gln, NP_001276681.1:p.Glu195Gln, NP_001276679.1:p.Glu144Gln

Select item 144488057218.

rs1444880572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:107919011 (GRCh38)
7:107559456 (GRCh37)
Canonical SPDI:: NC_000007.14:107919010:G:T
Gene:: DLD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.107919011G>T, NC_000007.13:g.107559456G>T, NG_008045.1:g.32871G>T, NM_000108.5:c.1376G>T, NM_000108.4:c.1376G>T, NM_000108.3:c.1376G>T, NM_001289751.1:c.1307G>T, NM_001289752.1:c.1232G>T, NM_001289750.1:c.1079G>T, NP_000099.2:p.Gly459Val, NP_001276680.1:p.Gly436Val, NP_001276681.1:p.Gly411Val, NP_001276679.1:p.Gly360Val

Select item 144315987219.

rs1443159872 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:107918050 (GRCh38)
7:107558495 (GRCh37)
Canonical SPDI:: NC_000007.14:107918049:A:G
Gene:: DLD (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.107918050A>G, NC_000007.13:g.107558495A>G, NG_008045.1:g.31910A>G, NM_000108.5:c.1363A>G, NM_000108.4:c.1363A>G, NM_000108.3:c.1363A>G, NM_001289751.1:c.1294A>G, NM_001289752.1:c.1219A>G, NM_001289750.1:c.1066A>G, NP_000099.2:p.Ile455Val, NP_001276680.1:p.Ile432Val, NP_001276681.1:p.Ile407Val, NP_001276679.1:p.Ile356Val

Select item 144255678920.

rs1442556789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:107919060 (GRCh38)
7:107559505 (GRCh37)
Canonical SPDI:: NC_000007.14:107919059:A:G
Gene:: DLD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.107919060A>G, NC_000007.13:g.107559505A>G, NG_008045.1:g.32920A>G, NM_000108.5:c.1425A>G, NM_000108.4:c.1425A>G, NM_000108.3:c.1425A>G, NM_001289751.1:c.1356A>G, NM_001289752.1:c.1281A>G, NM_001289750.1:c.1128A>G

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