SNP Links for Protein (Select 767960706) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:20249447 (GRCh38)
10:20538376 (GRCh37)
Canonical SPDI:: NC_000010.11:20249446:G:A
Gene:: PLXDC2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.20249447G>A, NC_000010.10:g.20538376G>A, XM_011519750.3:c.1531G>A, XM_011519750.2:c.1531G>A, XM_011519750.1:c.1531G>A, XP_011518052.1:p.Ala511Thr

Select item 14834344037.

rs1483434403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:20249604 (GRCh38)
10:20538533 (GRCh37)
Canonical SPDI:: NC_000010.11:20249603:C:T
Gene:: PLXDC2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.20249604C>T, NC_000010.10:g.20538533C>T, XM_011519750.3:c.1688C>T, XM_011519750.2:c.1688C>T, XM_011519750.1:c.1688C>T, XP_011518052.1:p.Pro563Leu

Select item 14814315808.

rs1481431580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:20068179 (GRCh38)
10:20357108 (GRCh37)
Canonical SPDI:: NC_000010.11:20068178:C:G
Gene:: PLXDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.20068179C>G, NC_000010.10:g.20357108C>G, NM_032812.9:c.481C>G, NM_032812.8:c.481C>G, NM_032812.7:c.481C>G, XM_011519750.3:c.481C>G, XM_011519750.2:c.481C>G, XM_011519750.1:c.481C>G, NM_001282736.2:c.334C>G, NM_001282736.1:c.334C>G, NP_116201.7:p.Leu161Val, XP_011518052.1:p.Leu161Val, NP_001269665.1:p.Leu112Val

Select item 14796563259.

rs1479656325 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:20217486 (GRCh38)
10:20506415 (GRCh37)
Canonical SPDI:: NC_000010.11:20217485:A:G
Gene:: PLXDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.20217486A>G, NC_000010.10:g.20506415A>G, NM_032812.9:c.1183A>G, NM_032812.8:c.1183A>G, NM_032812.7:c.1183A>G, XM_011519750.3:c.1183A>G, XM_011519750.2:c.1183A>G, XM_011519750.1:c.1183A>G, NM_001282736.2:c.1036A>G, NM_001282736.1:c.1036A>G, NP_116201.7:p.Thr395Ala, XP_011518052.1:p.Thr395Ala, NP_001269665.1:p.Thr346Ala

Select item 147916456710.

rs1479164567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:20177060 (GRCh38)
10:20465989 (GRCh37)
Canonical SPDI:: NC_000010.11:20177059:C:T
Gene:: PLXDC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.20177060C>T, NC_000010.10:g.20465989C>T, NM_032812.9:c.945C>T, NM_032812.8:c.945C>T, NM_032812.7:c.945C>T, XM_011519750.3:c.945C>T, XM_011519750.2:c.945C>T, XM_011519750.1:c.945C>T, NM_001282736.2:c.798C>T, NM_001282736.1:c.798C>T

Select item 147498018011.

rs1474980180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:20217493 (GRCh38)
10:20506422 (GRCh37)
Canonical SPDI:: NC_000010.11:20217492:G:A
Gene:: PLXDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.20217493G>A, NC_000010.10:g.20506422G>A, NM_032812.9:c.1190G>A, NM_032812.8:c.1190G>A, NM_032812.7:c.1190G>A, XM_011519750.3:c.1190G>A, XM_011519750.2:c.1190G>A, XM_011519750.1:c.1190G>A, NM_001282736.2:c.1043G>A, NM_001282736.1:c.1043G>A, NP_116201.7:p.Gly397Glu, XP_011518052.1:p.Gly397Glu, NP_001269665.1:p.Gly348Glu

Select item 147239352112.

rs1472393521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:20068232 (GRCh38)
10:20357161 (GRCh37)
Canonical SPDI:: NC_000010.11:20068231:A:G
Gene:: PLXDC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000010.11:g.20068232A>G, NC_000010.10:g.20357161A>G, NM_032812.9:c.534A>G, NM_032812.8:c.534A>G, NM_032812.7:c.534A>G, XM_011519750.3:c.534A>G, XM_011519750.2:c.534A>G, XM_011519750.1:c.534A>G, NM_001282736.2:c.387A>G, NM_001282736.1:c.387A>G

Select item 147072952413.

rs1470729524 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 10:19817140 (GRCh38)
10:20106069 (GRCh37)
Canonical SPDI:: NC_000010.11:19817135:CTTCTTC:CTTC
Gene:: PLXDC2 (Varview), LOC124902388 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,inframe_deletion
HGVS:: NC_000010.11:g.19817137TTC[1], NC_000010.10:g.20106066TTC[1], NM_032812.9:c.58TTC[1], NM_032812.8:c.58TTC[1], NM_032812.7:c.58TTC[1], XM_011519750.3:c.58TTC[1], XM_011519750.2:c.58TTC[1], XM_011519750.1:c.58TTC[1], NM_001282736.2:c.58TTC[1], NM_001282736.1:c.58TTC[1], NP_116201.7:p.Phe21del, XP_011518052.1:p.Phe21del, NP_001269665.1:p.Phe21del

Select item 146747874214.

rs1467478742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:20147853 (GRCh38)
10:20436782 (GRCh37)
Canonical SPDI:: NC_000010.11:20147852:T:C
Gene:: PLXDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.20147853T>C, NC_000010.10:g.20436782T>C, NM_032812.9:c.734T>C, NM_032812.8:c.734T>C, NM_032812.7:c.734T>C, XM_011519750.3:c.734T>C, XM_011519750.2:c.734T>C, XM_011519750.1:c.734T>C, NM_001282736.2:c.587T>C, NM_001282736.1:c.587T>C, NP_116201.7:p.Phe245Ser, XP_011518052.1:p.Phe245Ser, NP_001269665.1:p.Phe196Ser

Select item 146630638215.

rs1466306382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:20245454 (GRCh38)
10:20534383 (GRCh37)
Canonical SPDI:: NC_000010.11:20245453:A:G
Gene:: PLXDC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.20245454A>G, NC_000010.10:g.20534383A>G, NM_032812.9:c.1422A>G, NM_032812.8:c.1422A>G, NM_032812.7:c.1422A>G, XM_011519750.3:c.1422A>G, XM_011519750.2:c.1422A>G, XM_011519750.1:c.1422A>G, NM_001282736.2:c.1275A>G, NM_001282736.1:c.1275A>G

Select item 146467166416.

rs1464671664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:20001843 (GRCh38)
10:20290772 (GRCh37)
Canonical SPDI:: NC_000010.11:20001842:T:C
Gene:: PLXDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.20001843T>C, NC_000010.10:g.20290772T>C, NM_032812.9:c.181T>C, NM_032812.8:c.181T>C, NM_032812.7:c.181T>C, XM_011519750.3:c.181T>C, XM_011519750.2:c.181T>C, XM_011519750.1:c.181T>C, NM_001282736.2:c.181T>C, NM_001282736.1:c.181T>C, NP_116201.7:p.Tyr61His, XP_011518052.1:p.Tyr61His, NP_001269665.1:p.Tyr61His

Select item 146403079617.

rs1464030796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:20001980 (GRCh38)
10:20290909 (GRCh37)
Canonical SPDI:: NC_000010.11:20001979:G:A,NC_000010.11:20001979:G:T
Gene:: PLXDC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000010.11:g.20001980G>A, NC_000010.11:g.20001980G>T, NC_000010.10:g.20290909G>A, NC_000010.10:g.20290909G>T, NM_032812.9:c.318G>A, NM_032812.9:c.318G>T, NM_032812.8:c.318G>A, NM_032812.8:c.318G>T, NM_032812.7:c.318G>A, NM_032812.7:c.318G>T, XM_011519750.3:c.318G>A, XM_011519750.3:c.318G>T, XM_011519750.2:c.318G>A, XM_011519750.2:c.318G>T, XM_011519750.1:c.318G>A, XM_011519750.1:c.318G>T, NM_001282736.2:c.318G>A, NM_001282736.2:c.318G>T, NM_001282736.1:c.318G>A, NM_001282736.1:c.318G>T, NP_116201.7:p.Gln106His, XP_011518052.1:p.Gln106His, NP_001269665.1:p.Gln106His

Select item 146138717018.

rs1461387170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:20245399 (GRCh38)
10:20534328 (GRCh37)
Canonical SPDI:: NC_000010.11:20245398:T:A
Gene:: PLXDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.20245399T>A, NC_000010.10:g.20534328T>A, NM_032812.9:c.1367T>A, NM_032812.8:c.1367T>A, NM_032812.7:c.1367T>A, XM_011519750.3:c.1367T>A, XM_011519750.2:c.1367T>A, XM_011519750.1:c.1367T>A, NM_001282736.2:c.1220T>A, NM_001282736.1:c.1220T>A, NP_116201.7:p.Leu456His, XP_011518052.1:p.Leu456His, NP_001269665.1:p.Leu407His

Select item 145955009219.

rs1459550092 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:20177396 (GRCh38)
10:20466325 (GRCh37)
Canonical SPDI:: NC_000010.11:20177395:A:G
Gene:: PLXDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.20177396A>G, NC_000010.10:g.20466325A>G, NM_032812.9:c.1048A>G, NM_032812.8:c.1048A>G, NM_032812.7:c.1048A>G, XM_011519750.3:c.1048A>G, XM_011519750.2:c.1048A>G, XM_011519750.1:c.1048A>G, NM_001282736.2:c.901A>G, NM_001282736.1:c.901A>G, NP_116201.7:p.Ser350Gly, XP_011518052.1:p.Ser350Gly, NP_001269665.1:p.Ser301Gly

Select item 145466478320.

rs1454664783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:20245472 (GRCh38)
10:20534401 (GRCh37)
Canonical SPDI:: NC_000010.11:20245471:C:A,NC_000010.11:20245471:C:G
Gene:: PLXDC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000062/2 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.20245472C>A, NC_000010.11:g.20245472C>G, NC_000010.10:g.20534401C>A, NC_000010.10:g.20534401C>G, NM_032812.9:c.1440C>A, NM_032812.9:c.1440C>G, NM_032812.8:c.1440C>A, NM_032812.8:c.1440C>G, NM_032812.7:c.1440C>A, NM_032812.7:c.1440C>G, XM_011519750.3:c.1440C>A, XM_011519750.3:c.1440C>G, XM_011519750.2:c.1440C>A, XM_011519750.2:c.1440C>G, XM_011519750.1:c.1440C>A, XM_011519750.1:c.1440C>G, NM_001282736.2:c.1293C>A, NM_001282736.2:c.1293C>G, NM_001282736.1:c.1293C>A, NM_001282736.1:c.1293C>G, NP_116201.7:p.His480Gln, NP_116201.7:p.His480Gln, XP_011518052.1:p.His480Gln, XP_011518052.1:p.His480Gln, NP_001269665.1:p.His431Gln, NP_001269665.1:p.His431Gln

<< First< Prev

Page of 27

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 539

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity