SNP Links for Gene (Select 64928) - SNP

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Select item 14914103601.

rs1491410360 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:44122087 (GRCh38)
6:44089825 (GRCh37)
Canonical SPDI:: NC_000006.12:44122087:T:TT
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000006.12:g.44122088dup, NC_000006.11:g.44089825dup

Select item 14911121082.

rs1491112108 has merged into rs61174423 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 6:44121948 (GRCh38)
6:44089685 (GRCh37)
Canonical SPDI:: NC_000006.12:44121936:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:44121936:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:44121936:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:44121936:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:44121936:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:44121936:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:44121936:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:44121936:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.374/1873 (1000Genomes)
HGVS:: NC_000006.12:g.44121948_44121952del, NC_000006.12:g.44121949_44121952del, NC_000006.12:g.44121950_44121952del, NC_000006.12:g.44121951_44121952del, NC_000006.12:g.44121952del, NC_000006.12:g.44121952dup, NC_000006.12:g.44121951_44121952dup, NC_000006.12:g.44121950_44121952dup, NC_000006.11:g.44089685_44089689del, NC_000006.11:g.44089686_44089689del, NC_000006.11:g.44089687_44089689del, NC_000006.11:g.44089688_44089689del, NC_000006.11:g.44089689del, NC_000006.11:g.44089689dup, NC_000006.11:g.44089688_44089689dup, NC_000006.11:g.44089687_44089689dup

Select item 14909479643.

rs1490947964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:44125765 (GRCh38)
6:44093502 (GRCh37)
Canonical SPDI:: NC_000006.12:44125764:T:A
Gene:: POLR1C (Varview), TMEM63B (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.44125765T>A, NC_000006.11:g.44093502T>A

Select item 14909422394.

rs1490942239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:44124880 (GRCh38)
6:44092617 (GRCh37)
Canonical SPDI:: NC_000006.12:44124879:C:G,NC_000006.12:44124879:C:T
Gene:: POLR1C (Varview), TMEM63B (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.44124880C>G, NC_000006.12:g.44124880C>T, NC_000006.11:g.44092617C>G, NC_000006.11:g.44092617C>T

Select item 14907983355.

rs1490798335 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:44122782 (GRCh38)
6:44090519 (GRCh37)
Canonical SPDI:: NC_000006.12:44122781:A:G
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000671/3 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00067/3 (Estonian)
HGVS:: NC_000006.12:g.44122782A>G, NC_000006.11:g.44090519A>G

Select item 14905480396.

rs1490548039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:44117237 (GRCh38)
6:44084974 (GRCh37)
Canonical SPDI:: NC_000006.12:44117236:T:A,NC_000006.12:44117236:T:C,NC_000006.12:44117236:T:G
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.44117237T>A, NC_000006.12:g.44117237T>C, NC_000006.12:g.44117237T>G, NC_000006.11:g.44084974T>A, NC_000006.11:g.44084974T>C, NC_000006.11:g.44084974T>G

Select item 14904096957.

rs1490409695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:44117130 (GRCh38)
6:44084867 (GRCh37)
Canonical SPDI:: NC_000006.12:44117129:C:T
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.44117130C>T, NC_000006.11:g.44084867C>T

Select item 14903789888.

rs1490378988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:44117866 (GRCh38)
6:44085603 (GRCh37)
Canonical SPDI:: NC_000006.12:44117865:T:G
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000049/5 (GnomAD)
HGVS:: NC_000006.12:g.44117866T>G, NC_000006.11:g.44085603T>G

Select item 14902147259.

rs1490214725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:44117666 (GRCh38)
6:44085403 (GRCh37)
Canonical SPDI:: NC_000006.12:44117665:C:G,NC_000006.12:44117665:C:T
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.44117666C>G, NC_000006.12:g.44117666C>T, NC_000006.11:g.44085403C>G, NC_000006.11:g.44085403C>T

Select item 149019307010.

rs1490193070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:44121800 (GRCh38)
6:44089537 (GRCh37)
Canonical SPDI:: NC_000006.12:44121799:C:T
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000036/5 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.44121800C>T, NC_000006.11:g.44089537C>T

Select item 149012292111.

rs1490122921 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:44124323 (GRCh38)
6:44092060 (GRCh37)
Canonical SPDI:: NC_000006.12:44124322:T:G
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.44124323T>G, NC_000006.11:g.44092060T>G

Select item 148996546912.

rs1489965469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:44125009 (GRCh38)
6:44092746 (GRCh37)
Canonical SPDI:: NC_000006.12:44125008:G:A
Gene:: POLR1C (Varview), TMEM63B (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.44125009G>A, NC_000006.11:g.44092746G>A

Select item 148978179413.

rs1489781794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:44123759 (GRCh38)
6:44091496 (GRCh37)
Canonical SPDI:: NC_000006.12:44123758:A:G
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000006.12:g.44123759A>G, NC_000006.11:g.44091496A>G

Select item 148952697414.

rs1489526974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:44120268 (GRCh38)
6:44088005 (GRCh37)
Canonical SPDI:: NC_000006.12:44120267:A:C
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.44120268A>C, NC_000006.11:g.44088005A>C

Select item 148932689315.

rs1489326893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:44125418 (GRCh38)
6:44093155 (GRCh37)
Canonical SPDI:: NC_000006.12:44125417:G:C
Gene:: POLR1C (Varview), TMEM63B (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.44125418G>C, NC_000006.11:g.44093155G>C

Select item 148932246316.

rs1489322463 [Homo sapiens]

Variant type:: INS
Alleles:: ->TCA [Show Flanks]
Chromosome:: 6:44114761 (GRCh38)
6:44082499 (GRCh37)
Canonical SPDI:: NC_000006.12:44114761::TCA
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: TCA=0.0005/1 (Korea1K)
HGVS:: NC_000006.12:g.44114761_44114762insTCA, NC_000006.11:g.44082498_44082499insTCA

Select item 148929299217.

rs1489292992 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 6:44119244 (GRCh38)
6:44086981 (GRCh37)
Canonical SPDI:: NC_000006.12:44119243:T:
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.44119244del, NC_000006.11:g.44086981del

Select item 148927190518.

rs1489271905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:44117539 (GRCh38)
6:44085276 (GRCh37)
Canonical SPDI:: NC_000006.12:44117538:T:C
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000142/2 (TOMMO)
HGVS:: NC_000006.12:g.44117539T>C, NC_000006.11:g.44085276T>C

Select item 148921422219.

rs1489214222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:44127368 (GRCh38)
6:44095105 (GRCh37)
Canonical SPDI:: NC_000006.12:44127367:C:T
Gene:: POLR1C (Varview), TMEM63B (Varview), MRPL14 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,genic_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_000006.12:g.44127368C>T, NC_000006.11:g.44095105C>T, NM_032111.4:c.-43G>A, NM_032111.3:c.-43G>A, NM_032111.2:c.-43G>A, NM_001318771.2:c.-56G>A, NM_001318771.1:c.-56G>A

Select item 148909953220.

rs1489099532 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:44121991 (GRCh38)
6:44089728 (GRCh37)
Canonical SPDI:: NC_000006.12:44121990:T:G
Gene:: POLR1C (Varview), MRPL14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.44121991T>G, NC_000006.11:g.44089728T>G

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