SNP Links for Protein (Select 255958289) - SNP

Links from Protein

Items: 1 to 20 of 553

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Select item 14907344531.

rs1490734453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:4859869 (GRCh38)
19:4859881 (GRCh37)
Canonical SPDI:: NC_000019.10:4859868:A:G
Gene:: PLIN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.4859869A>G, NC_000019.9:g.4859881A>G, NG_028080.1:g.12900T>C, NM_005817.5:c.222T>C, NM_005817.4:c.222T>C, NM_001164189.2:c.222T>C, NM_001164189.1:c.222T>C, NM_001164194.2:c.222T>C, NM_001164194.1:c.222T>C

Select item 14874030632.

rs1487403063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4844670 (GRCh38)
19:4844682 (GRCh37)
Canonical SPDI:: NC_000019.10:4844669:C:T
Gene:: PLIN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4844670C>T, NC_000019.9:g.4844682C>T, NG_028080.1:g.28099G>A, NM_005817.5:c.958G>A, NM_005817.4:c.958G>A, NM_001164189.2:c.958G>A, NM_001164189.1:c.958G>A, NM_001164194.2:c.922G>A, NM_001164194.1:c.922G>A, NP_005808.3:p.Glu320Lys, NP_001157661.1:p.Glu320Lys, NP_001157666.1:p.Glu308Lys

Select item 14852772383.

rs1485277238 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:4852038 (GRCh38)
19:4852051 (GRCh37)
Canonical SPDI:: NC_000019.10:4852038:A:AA
Gene:: PLIN3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.4852039dup, NC_000019.9:g.4852051dup, NG_028080.1:g.20730dup, NM_005817.5:c.611dup, NM_005817.4:c.611dup, NM_001164189.2:c.611dup, NM_001164189.1:c.611dup, NM_001164194.2:c.575dup, NM_001164194.1:c.575dup, NP_005808.3:p.Pro205fs, NP_001157661.1:p.Pro205fs, NP_001157666.1:p.Pro193fs

Select item 14850152254.

rs1485015225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4852145 (GRCh38)
19:4852157 (GRCh37)
Canonical SPDI:: NC_000019.10:4852144:C:T
Gene:: PLIN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.4852145C>T, NC_000019.9:g.4852157C>T, NG_028080.1:g.20624G>A, NM_005817.5:c.505G>A, NM_005817.4:c.505G>A, NM_001164189.2:c.505G>A, NM_001164189.1:c.505G>A, NM_001164194.2:c.469G>A, NM_001164194.1:c.469G>A, NP_005808.3:p.Val169Met, NP_001157661.1:p.Val169Met, NP_001157666.1:p.Val157Met

Select item 14830593805.

rs1483059380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4839525 (GRCh38)
19:4839537 (GRCh37)
Canonical SPDI:: NC_000019.10:4839524:G:A
Gene:: PLIN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.4839525G>A, NC_000019.9:g.4839537G>A, NG_028080.1:g.33244C>T, NM_005817.5:c.972C>T, NM_005817.4:c.972C>T, NM_001164189.2:c.969C>T, NM_001164189.1:c.969C>T, NM_001164194.2:c.936C>T, NM_001164194.1:c.936C>T

Select item 14743882646.

rs1474388264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4852277 (GRCh38)
19:4852289 (GRCh37)
Canonical SPDI:: NC_000019.10:4852276:C:T
Gene:: PLIN3 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000019.10:g.4852277C>T, NC_000019.9:g.4852289C>T, NG_028080.1:g.20492G>A, NM_005817.5:c.373G>A, NM_005817.4:c.373G>A, NM_001164189.2:c.373G>A, NM_001164189.1:c.373G>A, NP_005808.3:p.Val125Met, NP_001157661.1:p.Val125Met

Select item 14741109027.

rs1474110902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:4847729 (GRCh38)
19:4847741 (GRCh37)
Canonical SPDI:: NC_000019.10:4847728:G:C
Gene:: PLIN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4847729G>C, NC_000019.9:g.4847741G>C, NG_028080.1:g.25040C>G, NM_005817.5:c.796C>G, NM_005817.4:c.796C>G, NM_001164189.2:c.796C>G, NM_001164189.1:c.796C>G, NM_001164194.2:c.760C>G, NM_001164194.1:c.760C>G, NP_005808.3:p.Gln266Glu, NP_001157661.1:p.Gln266Glu, NP_001157666.1:p.Gln254Glu

Select item 14725492208.

rs1472549220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:4859642 (GRCh38)
19:4859654 (GRCh37)
Canonical SPDI:: NC_000019.10:4859641:C:A
Gene:: PLIN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4859642C>A, NC_000019.9:g.4859654C>A, NG_028080.1:g.13127G>T, NM_005817.5:c.296G>T, NM_005817.4:c.296G>T, NM_001164189.2:c.296G>T, NM_001164189.1:c.296G>T, NM_001164194.2:c.296G>T, NM_001164194.1:c.296G>T, NP_005808.3:p.Gly99Val, NP_001157661.1:p.Gly99Val, NP_001157666.1:p.Gly99Val

Select item 14697422899.

rs1469742289 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:4839461 (GRCh38)
19:4839474 (GRCh37)
Canonical SPDI:: NC_000019.10:4839461:CCCC:CCCCC
Gene:: PLIN3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.4839465dup, NC_000019.9:g.4839477dup, NG_028080.1:g.33307dup, NM_005817.5:c.1035dup, NM_005817.4:c.1035dup, NM_001164189.2:c.1032dup, NM_001164189.1:c.1032dup, NM_001164194.2:c.999dup, NM_001164194.1:c.999dup, NP_005808.3:p.Ser346fs, NP_001157661.1:p.Ser345fs, NP_001157666.1:p.Ser334fs

Select item 146215773010.

rs1462157730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:4860005 (GRCh38)
19:4860017 (GRCh37)
Canonical SPDI:: NC_000019.10:4860004:A:C,NC_000019.10:4860004:A:T
Gene:: PLIN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4860005A>C, NC_000019.10:g.4860005A>T, NC_000019.9:g.4860017A>C, NC_000019.9:g.4860017A>T, NG_028080.1:g.12764T>G, NG_028080.1:g.12764T>A, NM_005817.5:c.86T>G, NM_005817.5:c.86T>A, NM_005817.4:c.86T>G, NM_005817.4:c.86T>A, NM_001164189.2:c.86T>G, NM_001164189.2:c.86T>A, NM_001164189.1:c.86T>G, NM_001164189.1:c.86T>A, NM_001164194.2:c.86T>G, NM_001164194.2:c.86T>A, NM_001164194.1:c.86T>G, NM_001164194.1:c.86T>A, NP_005808.3:p.Val29Gly, NP_005808.3:p.Val29Glu, NP_001157661.1:p.Val29Gly, NP_001157661.1:p.Val29Glu, NP_001157666.1:p.Val29Gly, NP_001157666.1:p.Val29Glu

Select item 146069041611.

rs1460690416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:4852291 (GRCh38)
19:4852303 (GRCh37)
Canonical SPDI:: NC_000019.10:4852290:T:A
Gene:: PLIN3 (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.4852291T>A, NC_000019.9:g.4852303T>A, NG_028080.1:g.20478A>T, NM_005817.5:c.359A>T, NM_005817.4:c.359A>T, NM_001164189.2:c.359A>T, NM_001164189.1:c.359A>T, NP_005808.3:p.Asp120Val, NP_001157661.1:p.Asp120Val

Select item 145767659812.

rs1457676598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:4839405 (GRCh38)
19:4839417 (GRCh37)
Canonical SPDI:: NC_000019.10:4839404:G:C
Gene:: PLIN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4839405G>C, NC_000019.9:g.4839417G>C, NG_028080.1:g.33364C>G, NM_005817.5:c.1092C>G, NM_005817.4:c.1092C>G, NM_001164189.2:c.1089C>G, NM_001164189.1:c.1089C>G, NM_001164194.2:c.1056C>G, NM_001164194.1:c.1056C>G

Select item 145708312413.

rs1457083124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:4859856 (GRCh38)
19:4859868 (GRCh37)
Canonical SPDI:: NC_000019.10:4859855:G:C
Gene:: PLIN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4859856G>C, NC_000019.9:g.4859868G>C, NG_028080.1:g.12913C>G, NM_005817.5:c.235C>G, NM_005817.4:c.235C>G, NM_001164189.2:c.235C>G, NM_001164189.1:c.235C>G, NM_001164194.2:c.235C>G, NM_001164194.1:c.235C>G, NP_005808.3:p.Gln79Glu, NP_001157661.1:p.Gln79Glu, NP_001157666.1:p.Gln79Glu

Select item 145699726114.

rs1456997261 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:4844767 (GRCh38)
19:4844779 (GRCh37)
Canonical SPDI:: NC_000019.10:4844766:A:G
Gene:: PLIN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4844767A>G, NC_000019.9:g.4844779A>G, NG_028080.1:g.28002T>C, NM_005817.5:c.861T>C, NM_005817.4:c.861T>C, NM_001164189.2:c.861T>C, NM_001164189.1:c.861T>C, NM_001164194.2:c.825T>C, NM_001164194.1:c.825T>C

Select item 145681933715.

rs1456819337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:4844698 (GRCh38)
19:4844710 (GRCh37)
Canonical SPDI:: NC_000019.10:4844697:C:A
Gene:: PLIN3 (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)
HGVS:: NC_000019.10:g.4844698C>A, NC_000019.9:g.4844710C>A, NG_028080.1:g.28071G>T, NM_005817.5:c.930G>T, NM_005817.4:c.930G>T, NM_001164189.2:c.930G>T, NM_001164189.1:c.930G>T, NM_001164194.2:c.894G>T, NM_001164194.1:c.894G>T, NP_005808.3:p.Gln310His, NP_001157661.1:p.Gln310His, NP_001157666.1:p.Gln298His

Select item 145382779916.

rs1453827799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4859643 (GRCh38)
19:4859655 (GRCh37)
Canonical SPDI:: NC_000019.10:4859642:C:T
Gene:: PLIN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4859643C>T, NC_000019.9:g.4859655C>T, NG_028080.1:g.13126G>A, NM_005817.5:c.295G>A, NM_005817.4:c.295G>A, NM_001164189.2:c.295G>A, NM_001164189.1:c.295G>A, NM_001164194.2:c.295G>A, NM_001164194.1:c.295G>A, NP_005808.3:p.Gly99Arg, NP_001157661.1:p.Gly99Arg, NP_001157666.1:p.Gly99Arg

Select item 144634519017.

rs1446345190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:4859954 (GRCh38)
19:4859966 (GRCh37)
Canonical SPDI:: NC_000019.10:4859953:T:C
Gene:: PLIN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4859954T>C, NC_000019.9:g.4859966T>C, NG_028080.1:g.12815A>G, NM_005817.5:c.137A>G, NM_005817.4:c.137A>G, NM_001164189.2:c.137A>G, NM_001164189.1:c.137A>G, NM_001164194.2:c.137A>G, NM_001164194.1:c.137A>G, NP_005808.3:p.Tyr46Cys, NP_001157661.1:p.Tyr46Cys, NP_001157666.1:p.Tyr46Cys

Select item 144462976218.

rs1444629762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:4861332 (GRCh38)
19:4861344 (GRCh37)
Canonical SPDI:: NC_000019.10:4861331:C:A,NC_000019.10:4861331:C:T
Gene:: PLIN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4861332C>A, NC_000019.10:g.4861332C>T, NC_000019.9:g.4861344C>A, NC_000019.9:g.4861344C>T, NG_028080.1:g.11437G>T, NG_028080.1:g.11437G>A, NM_005817.5:c.63G>T, NM_005817.5:c.63G>A, NM_005817.4:c.63G>T, NM_005817.4:c.63G>A, NM_001164189.2:c.63G>T, NM_001164189.2:c.63G>A, NM_001164189.1:c.63G>T, NM_001164189.1:c.63G>A, NM_001164194.2:c.63G>T, NM_001164194.2:c.63G>A, NM_001164194.1:c.63G>T, NM_001164194.1:c.63G>A, NP_005808.3:p.Gln21His, NP_001157661.1:p.Gln21His, NP_001157666.1:p.Gln21His

Select item 144407751919.

rs1444077519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:4839441 (GRCh38)
19:4839453 (GRCh37)
Canonical SPDI:: NC_000019.10:4839440:G:T
Gene:: PLIN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4839441G>T, NC_000019.9:g.4839453G>T, NG_028080.1:g.33328C>A, NM_005817.5:c.1056C>A, NM_005817.4:c.1056C>A, NM_001164189.2:c.1053C>A, NM_001164189.1:c.1053C>A, NM_001164194.2:c.1020C>A, NM_001164194.1:c.1020C>A

Select item 144266910020.

rs1442669100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:4859654 (GRCh38)
19:4859666 (GRCh37)
Canonical SPDI:: NC_000019.10:4859653:T:A
Gene:: PLIN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.4859654T>A, NC_000019.9:g.4859666T>A, NG_028080.1:g.13115A>T, NM_005817.5:c.284A>T, NM_005817.4:c.284A>T, NM_001164189.2:c.284A>T, NM_001164189.1:c.284A>T, NM_001164194.2:c.284A>T, NM_001164194.1:c.284A>T, NP_005808.3:p.Tyr95Phe, NP_001157661.1:p.Tyr95Phe, NP_001157666.1:p.Tyr95Phe

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