SNP Links for Gene (Select 221416) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:44000410 (GRCh38)
6:43968147 (GRCh37)
Canonical SPDI:: NC_000006.12:44000409:T:C
Gene:: POLR1C (Varview), C6orf223 (Varview), SCIRT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.44000410T>C, NC_000006.11:g.43968147T>C

Select item 14895254998.

rs1489525499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43997597 (GRCh38)
6:43965334 (GRCh37)
Canonical SPDI:: NC_000006.12:43997596:A:G
Gene:: POLR1C (Varview), SCIRT (Varview), LOC124901321 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000006.12:g.43997597A>G, NC_000006.11:g.43965334A>G

Select item 14893582669.

rs1489358266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:44003951 (GRCh38)
6:43971688 (GRCh37)
Canonical SPDI:: NC_000006.12:44003950:G:A
Gene:: POLR1C (Varview), C6orf223 (Varview), SCIRT (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.44003951G>A, NC_000006.11:g.43971688G>A, NM_153246.6:c.*825G>A, NM_153246.5:c.*825G>A, NM_153246.4:c.*825G>A, NM_001171992.2:c.*1279G>A, NR_160955.1:n.1632G>A, NR_160954.1:n.1589G>A, NR_160956.1:n.1462G>A, NM_001324369.1:c.*825G>A, NM_001171992.1:c.*1279G>A

Select item 148930502610.

rs1489305026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:44003012 (GRCh38)
6:43970749 (GRCh37)
Canonical SPDI:: NC_000006.12:44003011:C:G,NC_000006.12:44003011:C:T
Gene:: POLR1C (Varview), C6orf223 (Varview), SCIRT (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.44003012C>G, NC_000006.12:g.44003012C>T, NC_000006.11:g.43970749C>G, NC_000006.11:g.43970749C>T, NM_153246.6:c.615C>G, NM_153246.6:c.615C>T, NM_153246.5:c.615C>G, NM_153246.5:c.615C>T, NM_153246.4:c.615C>G, NM_153246.4:c.615C>T, NM_001171992.2:c.*340C>G, NM_001171992.2:c.*340C>T, NR_160955.1:n.693C>G, NR_160955.1:n.693C>T, NR_160954.1:n.650C>G, NR_160954.1:n.650C>T, NR_160956.1:n.523C>G, NR_160956.1:n.523C>T, NM_001324369.1:c.279C>G, NM_001324369.1:c.279C>T, NM_001171992.1:c.*340C>G, NM_001171992.1:c.*340C>T

Select item 148866450811.

rs1488664508 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCT>- [Show Flanks]
Chromosome:: 6:44007162 (GRCh38)
6:43974899 (GRCh37)
Canonical SPDI:: NC_000006.12:44007158:TCTGTCT:TCT
Gene:: POLR1C (Varview), C6orf223 (Varview), SCIRT (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000006.12:g.44007162_44007165del, NC_000006.11:g.43974899_43974902del, NM_153246.6:c.*4036_*4039del, NM_153246.5:c.*4036_*4039del, NM_001171992.2:c.*4490_*4493del, NR_160955.1:n.4843_4846del, NR_160954.1:n.4800_4803del, NR_160956.1:n.4673_4676del, NM_001324369.1:c.*4036_*4039del

Select item 148843471512.

rs1488434715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:44002952 (GRCh38)
6:43970689 (GRCh37)
Canonical SPDI:: NC_000006.12:44002951:C:T
Gene:: POLR1C (Varview), C6orf223 (Varview), SCIRT (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.44002952C>T, NC_000006.11:g.43970689C>T, NM_153246.6:c.555C>T, NM_153246.5:c.555C>T, NM_153246.4:c.555C>T, NM_001171992.2:c.*280C>T, NR_160955.1:n.633C>T, NR_160954.1:n.590C>T, NR_160956.1:n.463C>T, NM_001324369.1:c.219C>T, NM_001171992.1:c.*280C>T

Select item 148836561613.

rs1488365616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:44001509 (GRCh38)
6:43969246 (GRCh37)
Canonical SPDI:: NC_000006.12:44001508:G:A,NC_000006.12:44001508:G:T
Gene:: POLR1C (Varview), C6orf223 (Varview), SCIRT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.44001509G>A, NC_000006.12:g.44001509G>T, NC_000006.11:g.43969246G>A, NC_000006.11:g.43969246G>T

Select item 148778287514.

rs1487782875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:43998736 (GRCh38)
6:43966473 (GRCh37)
Canonical SPDI:: NC_000006.12:43998735:T:C,NC_000006.12:43998735:T:G
Gene:: POLR1C (Varview), C6orf223 (Varview), SCIRT (Varview), LOC124901321 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43998736T>C, NC_000006.12:g.43998736T>G, NC_000006.11:g.43966473T>C, NC_000006.11:g.43966473T>G

Select item 148734649615.

rs1487346496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:44002461 (GRCh38)
6:43970198 (GRCh37)
Canonical SPDI:: NC_000006.12:44002460:C:A
Gene:: POLR1C (Varview), C6orf223 (Varview), SCIRT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.44002461C>A, NC_000006.11:g.43970198C>A

Select item 148690340216.

rs1486903402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:44005918 (GRCh38)
6:43973655 (GRCh37)
Canonical SPDI:: NC_000006.12:44005917:C:G
Gene:: POLR1C (Varview), C6orf223 (Varview), SCIRT (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.44005918C>G, NC_000006.11:g.43973655C>G, NM_153246.6:c.*2792C>G, NM_153246.5:c.*2792C>G, NM_153246.4:c.*2792C>G, NM_001171992.2:c.*3246C>G, NR_160955.1:n.3599C>G, NR_160954.1:n.3556C>G, NR_160956.1:n.3429C>G, NM_001324369.1:c.*2792C>G, NM_001171992.1:c.*3246C>G

Select item 148671208917.

rs1486712089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:44003233 (GRCh38)
6:43970970 (GRCh37)
Canonical SPDI:: NC_000006.12:44003232:C:T
Gene:: POLR1C (Varview), C6orf223 (Varview), SCIRT (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.44003233C>T, NC_000006.11:g.43970970C>T, NM_153246.6:c.*107C>T, NM_153246.5:c.*107C>T, NM_153246.4:c.*107C>T, NM_001171992.2:c.*561C>T, NR_160955.1:n.914C>T, NR_160954.1:n.871C>T, NR_160956.1:n.744C>T, NM_001324369.1:c.*107C>T, NM_001171992.1:c.*561C>T

Select item 148631024118.

rs1486310241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:43998618 (GRCh38)
6:43966355 (GRCh37)
Canonical SPDI:: NC_000006.12:43998617:C:A
Gene:: POLR1C (Varview), C6orf223 (Varview), SCIRT (Varview), LOC124901321 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.43998618C>A, NC_000006.11:g.43966355C>A

Select item 148629748419.

rs1486297484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:43998180 (GRCh38)
6:43965917 (GRCh37)
Canonical SPDI:: NC_000006.12:43998179:C:G,NC_000006.12:43998179:C:T
Gene:: POLR1C (Varview), SCIRT (Varview), LOC124901321 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000006.12:g.43998180C>G, NC_000006.12:g.43998180C>T, NC_000006.11:g.43965917C>G, NC_000006.11:g.43965917C>T

Select item 148607288420.

rs1486072884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:44004683 (GRCh38)
6:43972420 (GRCh37)
Canonical SPDI:: NC_000006.12:44004682:G:A
Gene:: POLR1C (Varview), C6orf223 (Varview), SCIRT (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_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_000006.12:g.44004683G>A, NC_000006.11:g.43972420G>A, NM_153246.6:c.*1557G>A, NM_153246.5:c.*1557G>A, NM_153246.4:c.*1557G>A, NM_001171992.2:c.*2011G>A, NR_160955.1:n.2364G>A, NR_160954.1:n.2321G>A, NR_160956.1:n.2194G>A, NM_001324369.1:c.*1557G>A, NM_001171992.1:c.*2011G>A

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