SNP Links for Protein (Select 55769552) - SNP

Links from Protein

Items: 1 to 20 of 462

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Select item 14904647531.

rs1490464753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:22248586 (GRCh38)
8:22106099 (GRCh37)
Canonical SPDI:: NC_000008.11:22248585:G:A,NC_000008.11:22248585:G:C
Gene:: POLR3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22248586G>A, NC_000008.11:g.22248586G>C, NC_000008.10:g.22106099G>A, NC_000008.10:g.22106099G>C, NM_001722.3:c.592G>A, NM_001722.3:c.592G>C, NM_001722.2:c.592G>A, NM_001722.2:c.592G>C, NP_001713.2:p.Val198Ile, NP_001713.2:p.Val198Leu

Select item 14895789042.

rs1489578904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:22249121 (GRCh38)
8:22106634 (GRCh37)
Canonical SPDI:: NC_000008.11:22249120:C:G
Gene:: POLR3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.22249121C>G, NC_000008.10:g.22106634C>G, NM_001722.3:c.733C>G, NM_001722.2:c.733C>G, NP_001713.2:p.Leu245Val

Select item 14869367393.

rs1486936739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:22245597 (GRCh38)
8:22103110 (GRCh37)
Canonical SPDI:: NC_000008.11:22245596:C:G,NC_000008.11:22245596:C:T
Gene:: POLR3D (Varview), MIR320A (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_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_000008.11:g.22245597C>G, NC_000008.11:g.22245597C>T, NC_000008.10:g.22103110C>G, NC_000008.10:g.22103110C>T, NM_001722.3:c.148C>G, NM_001722.3:c.148C>T, NM_001722.2:c.148C>G, NM_001722.2:c.148C>T, NP_001713.2:p.Leu50Val, NP_001713.2:p.Leu50Phe

Select item 14868067524.

rs1486806752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:22247250 (GRCh38)
8:22104763 (GRCh37)
Canonical SPDI:: NC_000008.11:22247249:G:A
Gene:: POLR3D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.22247250G>A, NC_000008.10:g.22104763G>A, NM_001722.3:c.195G>A, NM_001722.2:c.195G>A

Select item 14866891735.

rs1486689173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22247992 (GRCh38)
8:22105505 (GRCh37)
Canonical SPDI:: NC_000008.11:22247991:A:G
Gene:: POLR3D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22247992A>G, NC_000008.10:g.22105505A>G, NM_001722.3:c.345A>G, NM_001722.2:c.345A>G

Select item 14855265436.

rs1485526543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:22249155 (GRCh38)
8:22106668 (GRCh37)
Canonical SPDI:: NC_000008.11:22249154:G:C
Gene:: POLR3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22249155G>C, NC_000008.10:g.22106668G>C, NM_001722.3:c.767G>C, NM_001722.2:c.767G>C, NP_001713.2:p.Arg256Thr

Select item 14813642947.

rs1481364294 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:22245592 (GRCh38)
8:22103105 (GRCh37)
Canonical SPDI:: NC_000008.11:22245591:T:A
Gene:: POLR3D (Varview), MIR320A (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.22245592T>A, NC_000008.10:g.22103105T>A, NM_001722.3:c.143T>A, NM_001722.2:c.143T>A, NP_001713.2:p.Leu48His

Select item 14794421608.

rs1479442160 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:22248210 (GRCh38)
8:22105723 (GRCh37)
Canonical SPDI:: NC_000008.11:22248209:A:C
Gene:: POLR3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22248210A>C, NC_000008.10:g.22105723A>C, NM_001722.3:c.418A>C, NM_001722.2:c.418A>C, NP_001713.2:p.Ile140Leu

Select item 14789194699.

rs1478919469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:22250154 (GRCh38)
8:22107667 (GRCh37)
Canonical SPDI:: NC_000008.11:22250153:C:G
Gene:: POLR3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22250154C>G, NC_000008.10:g.22107667C>G, NM_001722.3:c.1001C>G, NM_001722.2:c.1001C>G, NP_001713.2:p.Ser334Cys

Select item 147483077110.

rs1474830771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:22250075 (GRCh38)
8:22107588 (GRCh37)
Canonical SPDI:: NC_000008.11:22250074:G:A
Gene:: POLR3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22250075G>A, NC_000008.10:g.22107588G>A, NM_001722.3:c.922G>A, NM_001722.2:c.922G>A, NP_001713.2:p.Glu308Lys

Select item 147468276711.

rs1474682767 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:22245508 (GRCh38)
8:22103021 (GRCh37)
Canonical SPDI:: NC_000008.11:22245507:T:G
Gene:: POLR3D (Varview), MIR320A (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.22245508T>G, NC_000008.10:g.22103021T>G, NM_001722.3:c.59T>G, NM_001722.2:c.59T>G, NP_001713.2:p.Leu20Arg

Select item 147309914012.

rs1473099140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22249247 (GRCh38)
8:22106760 (GRCh37)
Canonical SPDI:: NC_000008.11:22249246:A:G
Gene:: POLR3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22249247A>G, NC_000008.10:g.22106760A>G, NM_001722.3:c.859A>G, NM_001722.2:c.859A>G, NP_001713.2:p.Ile287Val

Select item 146953365913.

rs1469533659 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 8:22247221 (GRCh38)
8:22104734 (GRCh37)
Canonical SPDI:: NC_000008.11:22247220:AAAA:AAA
Gene:: POLR3D (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.22247224del, NC_000008.10:g.22104737del, NM_001722.3:c.169del, NM_001722.2:c.169del, NP_001713.2:p.Thr57fs

Select item 146723819614.

rs1467238196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:22249229 (GRCh38)
8:22106742 (GRCh37)
Canonical SPDI:: NC_000008.11:22249228:A:C
Gene:: POLR3D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22249229A>C, NC_000008.10:g.22106742A>C, NM_001722.3:c.841A>C, NM_001722.2:c.841A>C, NP_001713.2:p.Thr281Pro

Select item 146451256315.

rs1464512563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22249169 (GRCh38)
8:22106682 (GRCh37)
Canonical SPDI:: NC_000008.11:22249168:A:G
Gene:: POLR3D (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_000008.11:g.22249169A>G, NC_000008.10:g.22106682A>G, NM_001722.3:c.781A>G, NM_001722.2:c.781A>G, NP_001713.2:p.Thr261Ala

Select item 146216918016.

rs1462169180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:22247263 (GRCh38)
8:22104776 (GRCh37)
Canonical SPDI:: NC_000008.11:22247262:G:A
Gene:: POLR3D (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)
HGVS:: NC_000008.11:g.22247263G>A, NC_000008.10:g.22104776G>A, NM_001722.3:c.208G>A, NM_001722.2:c.208G>A, NP_001713.2:p.Glu70Lys

Select item 146208763517.

rs1462087635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:22248643 (GRCh38)
8:22106156 (GRCh37)
Canonical SPDI:: NC_000008.11:22248642:G:A
Gene:: POLR3D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22248643G>A, NC_000008.10:g.22106156G>A, NM_001722.3:c.649G>A, NM_001722.2:c.649G>A, NP_001713.2:p.Val217Met

Select item 145740275718.

rs1457402757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:22248175 (GRCh38)
8:22105688 (GRCh37)
Canonical SPDI:: NC_000008.11:22248174:A:C
Gene:: POLR3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22248175A>C, NC_000008.10:g.22105688A>C, NM_001722.3:c.383A>C, NM_001722.2:c.383A>C, NP_001713.2:p.Asp128Ala

Select item 145725136919.

rs1457251369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:22247249 (GRCh38)
8:22104762 (GRCh37)
Canonical SPDI:: NC_000008.11:22247248:G:A
Gene:: POLR3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22247249G>A, NC_000008.10:g.22104762G>A, NM_001722.3:c.194G>A, NM_001722.2:c.194G>A, NP_001713.2:p.Arg65Gln

Select item 145660107820.

rs1456601078 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:22248570 (GRCh38)
8:22106083 (GRCh37)
Canonical SPDI:: NC_000008.11:22248569:A:C
Gene:: POLR3D (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.22248570A>C, NC_000008.10:g.22106083A>C, NM_001722.3:c.576A>C, NM_001722.2:c.576A>C, NP_001713.2:p.Glu192Asp

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