SNP Links for Nucleotide (Select 213511996) - SNP

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Links from Nucleotide

Items: 1 to 20 of 495

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Select item 14904243691.

rs1490424369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43936722 (GRCh38)
6:43904459 (GRCh37)
Canonical SPDI:: NC_000006.12:43936721:C:T
Gene:: POLR1C (Varview), LINC01512 (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=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.43936722C>T, NC_000006.11:g.43904459C>T, NR_024478.1:n.797C>T

Select item 14878414552.

rs1487841455 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 6:43936624 (GRCh38)
6:43904361 (GRCh37)
Canonical SPDI:: NC_000006.12:43936621:AGAAG:AG
Gene:: POLR1C (Varview), LINC01512 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000042/11 (TOPMED)
HGVS:: NC_000006.12:g.43936624_43936626del, NC_000006.11:g.43904361_43904363del, NR_024478.1:n.699_701del

Select item 14863987723.

rs1486398772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43937184 (GRCh38)
6:43904921 (GRCh37)
Canonical SPDI:: NC_000006.12:43937183:A:G
Gene:: POLR1C (Varview), LINC01512 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.43937184A>G, NC_000006.11:g.43904921A>G, NR_024478.1:n.1259A>G

Select item 14843671804.

rs1484367180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:43936370 (GRCh38)
6:43904107 (GRCh37)
Canonical SPDI:: NC_000006.12:43936369:G:T
Gene:: POLR1C (Varview), LINC01512 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000462/7 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00005/7 (GnomAD)
T=0.001563/7 (Estonian)
HGVS:: NC_000006.12:g.43936370G>T, NC_000006.11:g.43904107G>T, NR_024478.1:n.445G>T

Select item 14833832985.

rs1483383298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43891445 (GRCh38)
6:43859182 (GRCh37)
Canonical SPDI:: NC_000006.12:43891444:G:A
Gene:: POLR1C (Varview), LINC01512 (Varview), LOC105375070 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_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.43891445G>A, NC_000006.11:g.43859182G>A, NR_024478.1:n.418G>A

Select item 14823513776.

rs1482351377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:43936421 (GRCh38)
6:43904158 (GRCh37)
Canonical SPDI:: NC_000006.12:43936420:A:G,NC_000006.12:43936420:A:T
Gene:: POLR1C (Varview), LINC01512 (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.43936421A>G, NC_000006.12:g.43936421A>T, NC_000006.11:g.43904158A>G, NC_000006.11:g.43904158A>T, NR_024478.1:n.496A>G, NR_024478.1:n.496A>T

Select item 14822642787.

rs1482264278 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43936617 (GRCh38)
6:43904354 (GRCh37)
Canonical SPDI:: NC_000006.12:43936616:A:G
Gene:: POLR1C (Varview), LINC01512 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.43936617A>G, NC_000006.11:g.43904354A>G, NR_024478.1:n.692A>G

Select item 14817292778.

rs1481729277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43936376 (GRCh38)
6:43904113 (GRCh37)
Canonical SPDI:: NC_000006.12:43936375:A:G
Gene:: POLR1C (Varview), LINC01512 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000212/4 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.43936376A>G, NC_000006.11:g.43904113A>G, NR_024478.1:n.451A>G

Select item 14806454839.

rs1480645483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:43936826 (GRCh38)
6:43904563 (GRCh37)
Canonical SPDI:: NC_000006.12:43936825:C:A,NC_000006.12:43936825:C:T
Gene:: POLR1C (Varview), LINC01512 (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=0.000008/2 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.43936826C>A, NC_000006.12:g.43936826C>T, NC_000006.11:g.43904563C>A, NC_000006.11:g.43904563C>T, NR_024478.1:n.901C>A, NR_024478.1:n.901C>T

Select item 147843481310.

rs1478434813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43937251 (GRCh38)
6:43904988 (GRCh37)
Canonical SPDI:: NC_000006.12:43937250:C:T
Gene:: POLR1C (Varview), LINC01512 (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=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43937251C>T, NC_000006.11:g.43904988C>T, NR_024478.1:n.1326C>T

Select item 147744657111.

rs1477446571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43936710 (GRCh38)
6:43904447 (GRCh37)
Canonical SPDI:: NC_000006.12:43936709:T:C
Gene:: POLR1C (Varview), LINC01512 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.43936710T>C, NC_000006.11:g.43904447T>C, NR_024478.1:n.785T>C

Select item 147737548312.

rs1477375483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:43937826 (GRCh38)
6:43905563 (GRCh37)
Canonical SPDI:: NC_000006.12:43937825:T:A
Gene:: POLR1C (Varview), LINC01512 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_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.43937826T>A, NC_000006.11:g.43905563T>A, NR_024478.1:n.1901T>A

Select item 147283034213.

rs1472830342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:43891106 (GRCh38)
6:43858843 (GRCh37)
Canonical SPDI:: NC_000006.12:43891105:A:G,NC_000006.12:43891105:A:T
Gene:: POLR1C (Varview), LINC01512 (Varview), LOC105375070 (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=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.43891106A>G, NC_000006.12:g.43891106A>T, NC_000006.11:g.43858843A>G, NC_000006.11:g.43858843A>T, NR_024478.1:n.79A>G, NR_024478.1:n.79A>T

Select item 147176843714.

rs1471768437 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 6:43937767 (GRCh38)
6:43905504 (GRCh37)
Canonical SPDI:: NC_000006.12:43937766:C:
Gene:: POLR1C (Varview), LINC01512 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43937767del, NC_000006.11:g.43905504del, NR_024478.1:n.1842del

Select item 147123611415.

rs1471236114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43937458 (GRCh38)
6:43905195 (GRCh37)
Canonical SPDI:: NC_000006.12:43937457:G:A
Gene:: POLR1C (Varview), LINC01512 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.43937458G>A, NC_000006.11:g.43905195G>A, NR_024478.1:n.1533G>A

Select item 146985026716.

rs1469850267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43936512 (GRCh38)
6:43904249 (GRCh37)
Canonical SPDI:: NC_000006.12:43936511:A:G
Gene:: POLR1C (Varview), LINC01512 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43936512A>G, NC_000006.11:g.43904249A>G, NR_024478.1:n.587A>G

Select item 146976914517.

rs1469769145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43937077 (GRCh38)
6:43904814 (GRCh37)
Canonical SPDI:: NC_000006.12:43937076:C:T
Gene:: POLR1C (Varview), LINC01512 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43937077C>T, NC_000006.11:g.43904814C>T, NR_024478.1:n.1152C>T

Select item 146961681518.

rs1469616815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43937988 (GRCh38)
6:43905725 (GRCh37)
Canonical SPDI:: NC_000006.12:43937987:C:T
Gene:: POLR1C (Varview), LINC01512 (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=0.000008/2 (TOPMED)
T=0.000015/2 (GnomAD)
HGVS:: NC_000006.12:g.43937988C>T, NC_000006.11:g.43905725C>T, NR_024478.1:n.2063C>T

Select item 146915622019.

rs1469156220 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:43936913 (GRCh38)
6:43904650 (GRCh37)
Canonical SPDI:: NC_000006.12:43936912:T:G
Gene:: POLR1C (Varview), LINC01512 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.43936913T>G, NC_000006.11:g.43904650T>G, NR_024478.1:n.988T>G

Select item 146665200720.

rs1466652007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:43937331 (GRCh38)
6:43905068 (GRCh37)
Canonical SPDI:: NC_000006.12:43937330:A:C,NC_000006.12:43937330:A:G
Gene:: POLR1C (Varview), LINC01512 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43937331A>C, NC_000006.12:g.43937331A>G, NC_000006.11:g.43905068A>C, NC_000006.11:g.43905068A>G, NR_024478.1:n.1406A>C, NR_024478.1:n.1406A>G

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