SNP Links for Gene (Select 64425) - SNP

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Select item 14915550291.

rs1491555029 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:37491466 (GRCh38)
9:37491463 (GRCh37)
Canonical SPDI:: NC_000009.12:37491465:AT:
Gene:: POLR1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000009.12:g.37491466_37491467del, NC_000009.11:g.37491463_37491464del

Select item 14909665282.

rs1490966528 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:37487100 (GRCh38)
9:37487097 (GRCh37)
Canonical SPDI:: NC_000009.12:37487099:T:C
Gene:: POLR1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.37487100T>C, NC_000009.11:g.37487097T>C

Select item 14907229623.

rs1490722962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:37491482 (GRCh38)
9:37491479 (GRCh37)
Canonical SPDI:: NC_000009.12:37491481:G:C,NC_000009.12:37491481:G:T
Gene:: POLR1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001721/28 (ALFA)
C=0.000008/2 (TOPMED)
T=0.02909/85 (KOREAN)
HGVS:: NC_000009.12:g.37491482G>C, NC_000009.12:g.37491482G>T, NC_000009.11:g.37491479G>C, NC_000009.11:g.37491479G>T

Select item 14904975004.

rs1490497500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:37490517 (GRCh38)
9:37490514 (GRCh37)
Canonical SPDI:: NC_000009.12:37490516:C:T
Gene:: POLR1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000009.12:g.37490517C>T, NC_000009.11:g.37490514C>T, NG_010437.1:g.517G>A

Select item 14900484775.

rs1490048477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:37501532 (GRCh38)
9:37501529 (GRCh37)
Canonical SPDI:: NC_000009.12:37501531:C:G,NC_000009.12:37501531:C:T
Gene:: POLR1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.37501532C>G, NC_000009.12:g.37501532C>T, NC_000009.11:g.37501529C>G, NC_000009.11:g.37501529C>T

Select item 14900192166.

rs1490019216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:37486204 (GRCh38)
9:37486201 (GRCh37)
Canonical SPDI:: NC_000009.12:37486203:C:T
Gene:: POLR1E (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.37486204C>T, NC_000009.11:g.37486201C>T

Select item 14900183487.

rs1490018348 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:37489519 (GRCh38)
9:37489517 (GRCh37)
Canonical SPDI:: NC_000009.12:37489519:TTTTTT:TTTTTTT
Gene:: POLR1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
T=0.00476/1 (Vietnamese)
HGVS:: NC_000009.12:g.37489525dup, NC_000009.11:g.37489522dup

Select item 14895398458.

rs1489539845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:37503289 (GRCh38)
9:37503286 (GRCh37)
Canonical SPDI:: NC_000009.12:37503288:A:G
Gene:: POLR1E (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000108/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000009.12:g.37503289A>G, NC_000009.11:g.37503286A>G, NM_022490.4:c.*87A>G, NM_022490.3:c.*87A>G, NM_022490.2:c.*87A>G, NM_022490.1:c.*87A>G, NM_001282766.2:c.*87A>G, NM_001282766.1:c.*87A>G, XM_047423729.1:c.*87A>G

Select item 14890060489.

rs1489006048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:37489488 (GRCh38)
9:37489485 (GRCh37)
Canonical SPDI:: NC_000009.12:37489487:C:T
Gene:: POLR1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.37489488C>T, NC_000009.11:g.37489485C>T

Select item 148898460810.

rs1488984608 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAGA>- [Show Flanks]
Chromosome:: 9:37488537 (GRCh38)
9:37488534 (GRCh37)
Canonical SPDI:: NC_000009.12:37488535:AATAGA:A
Gene:: POLR1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.37488537_37488541del, NC_000009.11:g.37488534_37488538del

Select item 148897313611.

rs1488973136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:37486400 (GRCh38)
9:37486397 (GRCh37)
Canonical SPDI:: NC_000009.12:37486399:C:T
Gene:: POLR1E (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.37486400C>T, NC_000009.11:g.37486397C>T, XM_047423729.1:c.-41C>T

Select item 148888427112.

rs1488884271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:37492880 (GRCh38)
9:37492877 (GRCh37)
Canonical SPDI:: NC_000009.12:37492879:C:T
Gene:: POLR1E (Varview)
Functional Consequence:: 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_000009.12:g.37492880C>T, NC_000009.11:g.37492877C>T

Select item 148800888313.

rs1488008883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:37484994 (GRCh38)
9:37484991 (GRCh37)
Canonical SPDI:: NC_000009.12:37484993:G:A
Gene:: POLR1E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.37484994G>A, NC_000009.11:g.37484991G>A

Select item 148789148214.

rs1487891482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:37496846 (GRCh38)
9:37496843 (GRCh37)
Canonical SPDI:: NC_000009.12:37496845:G:A
Gene:: POLR1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000009.12:g.37496846G>A, NC_000009.11:g.37496843G>A

Select item 148780905915.

rs1487809059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:37496172 (GRCh38)
9:37496169 (GRCh37)
Canonical SPDI:: NC_000009.12:37496171:G:A
Gene:: POLR1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.37496172G>A, NC_000009.11:g.37496169G>A

Select item 148775120816.

rs1487751208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:37487199 (GRCh38)
9:37487196 (GRCh37)
Canonical SPDI:: NC_000009.12:37487198:G:T
Gene:: POLR1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.37487199G>T, NC_000009.11:g.37487196G>T

Select item 148712687217.

rs1487126872 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 9:37503590 (GRCh38)
9:37503587 (GRCh37)
Canonical SPDI:: NC_000009.12:37503588:ATA:A
Gene:: POLR1E (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.37503590_37503591del, NC_000009.11:g.37503587_37503588del, NM_022490.4:c.*388_*389del, NM_022490.3:c.*388_*389del, NM_022490.2:c.*388_*389del, NM_022490.1:c.*388_*389del, NM_001282766.2:c.*388_*389del, NM_001282766.1:c.*388_*389del, XM_047423729.1:c.*388_*389del

Select item 148690841618.

rs1486908416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:37498308 (GRCh38)
9:37498305 (GRCh37)
Canonical SPDI:: NC_000009.12:37498307:G:A
Gene:: POLR1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.37498308G>A, NC_000009.11:g.37498305G>A

Select item 148687741919.

rs1486877419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:37499431 (GRCh38)
9:37499428 (GRCh37)
Canonical SPDI:: NC_000009.12:37499430:A:C
Gene:: POLR1E (Varview)
Functional Consequence:: intron_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_000009.12:g.37499431A>C, NC_000009.11:g.37499428A>C

Select item 148657372920.

rs1486573729 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTGTGGCAGG [Show Flanks]
Chromosome:: 9:37498637 (GRCh38)
9:37498635 (GRCh37)
Canonical SPDI:: NC_000009.12:37498637:AGGCTTGTGGCAGG:AGGCTTGTGGCAGGCTTGTGGCAGG
Gene:: POLR1E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGGCTTGTGGCAGGCTTGTGGCAGG=0./0 (ALFA)
HGVS:: NC_000009.12:g.37498641_37498651dup, NC_000009.11:g.37498638_37498648dup

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