SNP Links for Protein (Select 906847347) - SNP

Links from Protein

Items: 1 to 20 of 196

<< First< Prev

Page of 10

Next >Last >>

Select item 14899876211.

rs1489987621 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:51058284 (GRCh38)
15:51350481 (GRCh37)
Canonical SPDI:: NC_000015.10:51058283:T:C
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.51058284T>C, NC_000015.9:g.51350481T>C, NM_207381.4:c.476A>G, NM_207381.3:c.476A>G, NM_207381.2:c.476A>G, NM_001311175.2:c.212A>G, NM_001311175.1:c.212A>G, NP_997264.2:p.Lys159Arg, NP_001298104.1:p.Lys71Arg

Select item 14848588002.

rs1484858800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:51094548 (GRCh38)
15:51386745 (GRCh37)
Canonical SPDI:: NC_000015.10:51094547:G:A,NC_000015.10:51094547:G:C
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview), LOC124903491 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.51094548G>A, NC_000015.10:g.51094548G>C, NC_000015.9:g.51386745G>A, NC_000015.9:g.51386745G>C, NM_207381.4:c.312C>T, NM_207381.4:c.312C>G, NM_207381.3:c.312C>T, NM_207381.3:c.312C>G, NM_207381.2:c.312C>T, NM_207381.2:c.312C>G, NM_001311175.2:c.48C>T, NM_001311175.2:c.48C>G, NM_001311175.1:c.48C>T, NM_001311175.1:c.48C>G

Select item 14796820783.

rs1479682078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:51058198 (GRCh38)
15:51350395 (GRCh37)
Canonical SPDI:: NC_000015.10:51058197:C:T
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.51058198C>T, NC_000015.9:g.51350395C>T, NM_207381.4:c.562G>A, NM_207381.3:c.562G>A, NM_207381.2:c.562G>A, NM_001311175.2:c.298G>A, NM_001311175.1:c.298G>A, NP_997264.2:p.Glu188Lys, NP_001298104.1:p.Glu100Lys

Select item 14729964394.

rs1472996439 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:51058264 (GRCh38)
15:51350461 (GRCh37)
Canonical SPDI:: NC_000015.10:51058263:T:C
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.51058264T>C, NC_000015.9:g.51350461T>C, NM_207381.4:c.496A>G, NM_207381.3:c.496A>G, NM_207381.2:c.496A>G, NM_001311175.2:c.232A>G, NM_001311175.1:c.232A>G, NP_997264.2:p.Met166Val, NP_001298104.1:p.Met78Val

Select item 14703860675.

rs1470386067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:51058428 (GRCh38)
15:51350625 (GRCh37)
Canonical SPDI:: NC_000015.10:51058427:C:A
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.51058428C>A, NC_000015.9:g.51350625C>A, NM_207381.4:c.332G>T, NM_207381.3:c.332G>T, NM_207381.2:c.332G>T, NM_001311175.2:c.68G>T, NM_001311175.1:c.68G>T, NP_997264.2:p.Ser111Ile, NP_001298104.1:p.Ser23Ile

Select item 14685670626.

rs1468567062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:51094560 (GRCh38)
15:51386757 (GRCh37)
Canonical SPDI:: NC_000015.10:51094559:C:A,NC_000015.10:51094559:C:G
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview), LOC124903491 (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.51094560C>A, NC_000015.10:g.51094560C>G, NC_000015.9:g.51386757C>A, NC_000015.9:g.51386757C>G, NM_207381.4:c.300G>T, NM_207381.4:c.300G>C, NM_207381.3:c.300G>T, NM_207381.3:c.300G>C, NM_207381.2:c.300G>T, NM_207381.2:c.300G>C, NM_001311175.2:c.36G>T, NM_001311175.2:c.36G>C, NM_001311175.1:c.36G>T, NM_001311175.1:c.36G>C, NP_997264.2:p.Glu100Asp, NP_997264.2:p.Glu100Asp, NP_001298104.1:p.Glu12Asp, NP_001298104.1:p.Glu12Asp

Select item 14685526477.

rs1468552647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:51058130 (GRCh38)
15:51350327 (GRCh37)
Canonical SPDI:: NC_000015.10:51058129:G:A
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.51058130G>A, NC_000015.9:g.51350327G>A, NM_207381.4:c.630C>T, NM_207381.3:c.630C>T, NM_207381.2:c.630C>T, NM_001311175.2:c.366C>T, NM_001311175.1:c.366C>T

Select item 14603181808.

rs1460318180 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:51058418 (GRCh38)
15:51350615 (GRCh37)
Canonical SPDI:: NC_000015.10:51058417:A:C,NC_000015.10:51058417:A:G
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000015.10:g.51058418A>C, NC_000015.10:g.51058418A>G, NC_000015.9:g.51350615A>C, NC_000015.9:g.51350615A>G, NM_207381.4:c.342T>G, NM_207381.4:c.342T>C, NM_207381.3:c.342T>G, NM_207381.3:c.342T>C, NM_207381.2:c.342T>G, NM_207381.2:c.342T>C, NM_001311175.2:c.78T>G, NM_001311175.2:c.78T>C, NM_001311175.1:c.78T>G, NM_001311175.1:c.78T>C, NP_997264.2:p.Ser114Arg, NP_001298104.1:p.Ser26Arg

Select item 14520056169.

rs1452005616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:51058126 (GRCh38)
15:51350323 (GRCh37)
Canonical SPDI:: NC_000015.10:51058125:C:T
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.51058126C>T, NC_000015.9:g.51350323C>T, NM_207381.4:c.634G>A, NM_207381.3:c.634G>A, NM_207381.2:c.634G>A, NM_001311175.2:c.370G>A, NM_001311175.1:c.370G>A, NP_997264.2:p.Glu212Lys, NP_001298104.1:p.Glu124Lys

Select item 144476253110.

rs1444762531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:51058319 (GRCh38)
15:51350516 (GRCh37)
Canonical SPDI:: NC_000015.10:51058318:C:G
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.51058319C>G, NC_000015.9:g.51350516C>G, NM_207381.4:c.441G>C, NM_207381.3:c.441G>C, NM_207381.2:c.441G>C, NM_001311175.2:c.177G>C, NM_001311175.1:c.177G>C, NP_997264.2:p.Glu147Asp, NP_001298104.1:p.Glu59Asp

Select item 143687957011.

rs1436879570 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:51058299 (GRCh38)
15:51350496 (GRCh37)
Canonical SPDI:: NC_000015.10:51058298:T:C
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.51058299T>C, NC_000015.9:g.51350496T>C, NM_207381.4:c.461A>G, NM_207381.3:c.461A>G, NM_207381.2:c.461A>G, NM_001311175.2:c.197A>G, NM_001311175.1:c.197A>G, NP_997264.2:p.Glu154Gly, NP_001298104.1:p.Glu66Gly

Select item 142342638512.

rs1423426385 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 15:51058031 (GRCh38)
15:51350228 (GRCh37)
Canonical SPDI:: NC_000015.10:51058030:GGG:GG
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000015.10:g.51058033del, NC_000015.9:g.51350230del, NM_207381.4:c.729del, NM_207381.3:c.729del, NM_207381.2:c.729del, NM_001311175.2:c.465del, NM_001311175.1:c.465del, NP_997264.2:p.Arg244fs, NP_001298104.1:p.Arg156fs

Select item 142106512213.

rs1421065122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:51094563 (GRCh38)
15:51386760 (GRCh37)
Canonical SPDI:: NC_000015.10:51094562:G:T
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview), LOC124903491 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000015.10:g.51094563G>T, NC_000015.9:g.51386760G>T, NM_207381.4:c.297C>A, NM_207381.3:c.297C>A, NM_207381.2:c.297C>A, NM_001311175.2:c.33C>A, NM_001311175.1:c.33C>A

Select item 141798776814.

rs1417987768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:51058047 (GRCh38)
15:51350244 (GRCh37)
Canonical SPDI:: NC_000015.10:51058046:T:C
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.51058047T>C, NC_000015.9:g.51350244T>C, NM_207381.4:c.713A>G, NM_207381.3:c.713A>G, NM_207381.2:c.713A>G, NM_001311175.2:c.449A>G, NM_001311175.1:c.449A>G, NP_997264.2:p.Gln238Arg, NP_001298104.1:p.Gln150Arg

Select item 141333648815.

rs1413336488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:51058350 (GRCh38)
15:51350547 (GRCh37)
Canonical SPDI:: NC_000015.10:51058349:A:G
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.51058350A>G, NC_000015.9:g.51350547A>G, NM_207381.4:c.410T>C, NM_207381.3:c.410T>C, NM_207381.2:c.410T>C, NM_001311175.2:c.146T>C, NM_001311175.1:c.146T>C, NP_997264.2:p.Ile137Thr, NP_001298104.1:p.Ile49Thr

Select item 140860825016.

rs1408608250 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTAAAAACA>- [Show Flanks]
Chromosome:: 15:51058427 (GRCh38)
15:51350624 (GRCh37)
Canonical SPDI:: NC_000015.10:51058425:AACTAAAAACA:A
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.51058427_51058436del, NC_000015.9:g.51350624_51350633del, NM_207381.4:c.325_334del, NM_207381.3:c.325_334del, NM_207381.2:c.325_334del, NM_001311175.2:c.61_70del, NM_001311175.1:c.61_70del, NP_997264.2:p.Val109fs, NP_001298104.1:p.Val21fs

Select item 140474238417.

rs1404742384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:51094581 (GRCh38)
15:51386778 (GRCh37)
Canonical SPDI:: NC_000015.10:51094580:G:A
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview), LOC124903491 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.51094581G>A, NC_000015.9:g.51386778G>A, NM_207381.4:c.279C>T, NM_207381.3:c.279C>T, NM_207381.2:c.279C>T, NM_001311175.2:c.15C>T, NM_001311175.1:c.15C>T

Select item 140348968718.

rs1403489687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:51058121 (GRCh38)
15:51350318 (GRCh37)
Canonical SPDI:: NC_000015.10:51058120:C:T
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.51058121C>T, NC_000015.9:g.51350318C>T, NM_207381.4:c.639G>A, NM_207381.3:c.639G>A, NM_207381.2:c.639G>A, NM_001311175.2:c.375G>A, NM_001311175.1:c.375G>A

Select item 140040266919.

rs1400402669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:51057916 (GRCh38)
15:51350113 (GRCh37)
Canonical SPDI:: NC_000015.10:51057915:C:T
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.51057916C>T, NC_000015.9:g.51350113C>T, NM_207381.4:c.844G>A, NM_207381.3:c.844G>A, NM_207381.2:c.844G>A, NM_001311175.2:c.580G>A, NM_001311175.1:c.580G>A, NP_997264.2:p.Gly282Arg, NP_001298104.1:p.Gly194Arg

Select item 138523007120.

rs1385230071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:51058361 (GRCh38)
15:51350558 (GRCh37)
Canonical SPDI:: NC_000015.10:51058360:G:C
Gene:: TNFAIP8L3 (Varview), MIR4713HG (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.51058361G>C, NC_000015.9:g.51350558G>C, NM_207381.4:c.399C>G, NM_207381.3:c.399C>G, NM_207381.2:c.399C>G, NM_001311175.2:c.135C>G, NM_001311175.1:c.135C>G

<< First< Prev

Page of 10

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 196

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity