SNP Links for Gene (Select 661) - SNP

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Select item 14904990021.

rs1490499002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:22247378 (GRCh38)
8:22104891 (GRCh37)
Canonical SPDI:: NC_000008.11:22247377:C:A,NC_000008.11:22247377:C:G
Gene:: POLR3D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.22247378C>A, NC_000008.11:g.22247378C>G, NC_000008.10:g.22104891C>A, NC_000008.10:g.22104891C>G

Select item 14904647532.

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 14901215403.

rs1490121540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:22249750 (GRCh38)
8:22107263 (GRCh37)
Canonical SPDI:: NC_000008.11:22249749:A:T
Gene:: POLR3D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000008.11:g.22249750A>T, NC_000008.10:g.22107263A>T

Select item 14899836884.

rs1489983688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22246521 (GRCh38)
8:22104034 (GRCh37)
Canonical SPDI:: NC_000008.11:22246520:C:T
Gene:: POLR3D (Varview), MIR320A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000036/5 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.22246521C>T, NC_000008.10:g.22104034C>T

Select item 14895789045.

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 14878580856.

rs1487858085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:22245946 (GRCh38)
8:22103459 (GRCh37)
Canonical SPDI:: NC_000008.11:22245945:G:A,NC_000008.11:22245945:G:C
Gene:: POLR3D (Varview), MIR320A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.22245946G>A, NC_000008.11:g.22245946G>C, NC_000008.10:g.22103459G>A, NC_000008.10:g.22103459G>C

Select item 14874830707.

rs1487483070 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:22243647 (GRCh38)
8:22101160 (GRCh37)
Canonical SPDI:: NC_000008.11:22243646:T:A
Gene:: POLR3D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000008.11:g.22243647T>A, NC_000008.10:g.22101160T>A

Select item 14873431868.

rs1487343186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:22245036 (GRCh38)
8:22102549 (GRCh37)
Canonical SPDI:: NC_000008.11:22245035:A:C
Gene:: POLR3D (Varview), MIR320A (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22245036A>C, NC_000008.10:g.22102549A>C, NR_029714.2:n.2T>G, NR_029714.1:n.8T>G

Select item 14871195409.

rs1487119540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:22243139 (GRCh38)
8:22100652 (GRCh37)
Canonical SPDI:: NC_000008.11:22243138:G:T
Gene:: POLR3D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.22243139G>T, NC_000008.10:g.22100652G>T

Select item 148705584310.

rs1487055843 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAT [Show Flanks]
Chromosome:: 8:22243947 (GRCh38)
8:22101461 (GRCh37)
Canonical SPDI:: NC_000008.11:22243947:GGAT:GGATGGAT
Gene:: POLR3D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGATGGAT=0./0 (ALFA)
GGAT=0.000015/4 (TOPMED)
GGAT=0.000156/1 (1000Genomes)
GGAT=0.000461/8 (TOMMO)
GGAT=0.001092/2 (Korea1K)
HGVS:: NC_000008.11:g.22243948_22243951dup, NC_000008.10:g.22101461_22101464dup

Select item 148693673911.

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 148680675212.

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 148669645313.

rs1486696453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:22244805 (GRCh38)
8:22102318 (GRCh37)
Canonical SPDI:: NC_000008.11:22244804:C:G
Gene:: POLR3D (Varview), MIR320A (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.22244805C>G, NC_000008.10:g.22102318C>G

Select item 148668917314.

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 148664973215.

rs1486649732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:22244584 (GRCh38)
8:22102097 (GRCh37)
Canonical SPDI:: NC_000008.11:22244583:C:A
Gene:: POLR3D (Varview), MIR320A (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.0007/3 (ALFA)
A=0.0007/3 (Estonian)
HGVS:: NC_000008.11:g.22244584C>A, NC_000008.10:g.22102097C>A

Select item 148652732916.

rs1486527329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:22251279 (GRCh38)
8:22108792 (GRCh37)
Canonical SPDI:: NC_000008.11:22251278:T:C
Gene:: POLR3D (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.22251279T>C, NC_000008.10:g.22108792T>C, NM_001722.3:c.*761T>C

Select item 148604293417.

rs1486042934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22243966 (GRCh38)
8:22101479 (GRCh37)
Canonical SPDI:: NC_000008.11:22243965:A:G
Gene:: POLR3D (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.22243966A>G, NC_000008.10:g.22101479A>G

Select item 148552879718.

rs1485528797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:22249751 (GRCh38)
8:22107264 (GRCh37)
Canonical SPDI:: NC_000008.11:22249750:G:A
Gene:: POLR3D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.22249751G>A, NC_000008.10:g.22107264G>A

Select item 148552654319.

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 148451675220.

rs1484516752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:22251199 (GRCh38)
8:22108712 (GRCh37)
Canonical SPDI:: NC_000008.11:22251198:C:A,NC_000008.11:22251198:C:G
Gene:: POLR3D (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22251199C>A, NC_000008.11:g.22251199C>G, NC_000008.10:g.22108712C>A, NC_000008.10:g.22108712C>G, NM_001722.3:c.*681C>A, NM_001722.3:c.*681C>G

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