SNP Links for Gene (Select 221830) - SNP

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Select item 14910654821.

rs1491065482 has merged into rs58291037 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 7:19695403 (GRCh38)
7:19735026 (GRCh37)
Canonical SPDI:: NC_000007.14:19695391:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:19695391:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:19695391:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:19695391:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:19695391:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:19695391:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:19695391:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:19695391:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: POLR1F (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.225/9 (GENOME_DK)
HGVS:: NC_000007.14:g.19695403_19695406del, NC_000007.14:g.19695404_19695406del, NC_000007.14:g.19695405_19695406del, NC_000007.14:g.19695406del, NC_000007.14:g.19695406dup, NC_000007.14:g.19695405_19695406dup, NC_000007.14:g.19695404_19695406dup, NC_000007.14:g.19695403_19695406dup, NC_000007.13:g.19735026_19735029del, NC_000007.13:g.19735027_19735029del, NC_000007.13:g.19735028_19735029del, NC_000007.13:g.19735029del, NC_000007.13:g.19735029dup, NC_000007.13:g.19735028_19735029dup, NC_000007.13:g.19735027_19735029dup, NC_000007.13:g.19735026_19735029dup

Select item 14910357652.

rs1491035765 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:19695407 (GRCh38)
7:19735030 (GRCh37)
Canonical SPDI:: NC_000007.14:19695405:AGA:A
Gene:: POLR1F (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.19695407_19695408del, NC_000007.13:g.19735030_19735031del

Select item 14909561723.

rs1490956172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:19695982 (GRCh38)
7:19735605 (GRCh37)
Canonical SPDI:: NC_000007.14:19695981:A:G
Gene:: POLR1F (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.19695982A>G, NC_000007.13:g.19735605A>G, NM_001002926.2:c.*2334T>C, NM_001002926.1:c.*2334T>C

Select item 14908308394.

rs1490830839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:19696087 (GRCh38)
7:19735710 (GRCh37)
Canonical SPDI:: NC_000007.14:19696086:G:A
Gene:: POLR1F (Varview)
Functional Consequence:: 3_prime_UTR_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_000007.14:g.19696087G>A, NC_000007.13:g.19735710G>A, NM_001002926.2:c.*2229C>T, NM_001002926.1:c.*2229C>T

Select item 14905909935.

rs1490590993 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:19699417 (GRCh38)
7:19739040 (GRCh37)
Canonical SPDI:: NC_000007.14:19699416:A:G
Gene:: POLR1F (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.19699417A>G, NC_000007.13:g.19739040A>G

Select item 14905508496.

rs1490550849 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:19704223 (GRCh38)
7:19743846 (GRCh37)
Canonical SPDI:: NC_000007.14:19704219:AGAGA:AGA
Gene:: POLR1F (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000007.14:g.19704221GA[1], NC_000007.13:g.19743844GA[1]

Select item 14900390627.

rs1490039062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:19700180 (GRCh38)
7:19739803 (GRCh37)
Canonical SPDI:: NC_000007.14:19700179:C:T
Gene:: POLR1F (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.19700180C>T, NC_000007.13:g.19739803C>T, NM_001002926.2:c.497G>A, NM_001002926.1:c.497G>A, NP_001002926.1:p.Trp166Ter

Select item 14900219638.

rs1490021963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:19695701 (GRCh38)
7:19735324 (GRCh37)
Canonical SPDI:: NC_000007.14:19695700:T:C
Gene:: POLR1F (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.19695701T>C, NC_000007.13:g.19735324T>C, NM_001002926.2:c.*2615A>G, NM_001002926.1:c.*2615A>G

Select item 14899681859.

rs1489968185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:19710913 (GRCh38)
7:19750536 (GRCh37)
Canonical SPDI:: NC_000007.14:19710912:A:C
Gene:: POLR1F (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.19710913A>C, NC_000007.13:g.19750536A>C

Select item 148995231810.

rs1489952318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:19709824 (GRCh38)
7:19749447 (GRCh37)
Canonical SPDI:: NC_000007.14:19709823:T:C
Gene:: POLR1F (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000007.14:g.19709824T>C, NC_000007.13:g.19749447T>C

Select item 148957993611.

rs1489579936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:19706775 (GRCh38)
7:19746398 (GRCh37)
Canonical SPDI:: NC_000007.14:19706774:A:G
Gene:: POLR1F (Varview), MIR3146 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.19706775A>G, NC_000007.13:g.19746398A>G

Select item 148952018212.

rs1489520182 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:19695273 (GRCh38)
7:19734896 (GRCh37)
Canonical SPDI:: NC_000007.14:19695272:CCC:CC
Gene:: POLR1F (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.19695275del, NC_000007.13:g.19734898del

Select item 148933085313.

rs1489330853 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:19708382 (GRCh38)
7:19748005 (GRCh37)
Canonical SPDI:: NC_000007.14:19708381:A:G
Gene:: POLR1F (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.19708382A>G, NC_000007.13:g.19748005A>G

Select item 148925873414.

rs1489258734 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:19710373 (GRCh38)
7:19749996 (GRCh37)
Canonical SPDI:: NC_000007.14:19710372:A:G
Gene:: POLR1F (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.19710373A>G, NC_000007.13:g.19749996A>G

Select item 148922706815.

rs1489227068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:19697877 (GRCh38)
7:19737500 (GRCh37)
Canonical SPDI:: NC_000007.14:19697876:G:A
Gene:: POLR1F (Varview)
Functional Consequence:: 3_prime_UTR_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_000007.14:g.19697877G>A, NC_000007.13:g.19737500G>A, NM_001002926.2:c.*439C>T, NM_001002926.1:c.*439C>T

Select item 148908812116.

rs1489088121 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 7:19701626 (GRCh38)
7:19741249 (GRCh37)
Canonical SPDI:: NC_000007.14:19701625:AA:
Gene:: POLR1F (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.19701626_19701627del, NC_000007.13:g.19741249_19741250del

Select item 148907391217.

rs1489073912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:19702976 (GRCh38)
7:19742599 (GRCh37)
Canonical SPDI:: NC_000007.14:19702975:T:C
Gene:: POLR1F (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.19702976T>C, NC_000007.13:g.19742599T>C

Select item 148905057518.

rs1489050575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:19702253 (GRCh38)
7:19741876 (GRCh37)
Canonical SPDI:: NC_000007.14:19702252:T:C
Gene:: POLR1F (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.19702253T>C, NC_000007.13:g.19741876T>C

Select item 148904023619.

rs1489040236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:19701961 (GRCh38)
7:19741584 (GRCh37)
Canonical SPDI:: NC_000007.14:19701960:A:G
Gene:: POLR1F (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.19701961A>G, NC_000007.13:g.19741584A>G

Select item 148878122620.

rs1488781226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:19706284 (GRCh38)
7:19745907 (GRCh37)
Canonical SPDI:: NC_000007.14:19706283:T:A,NC_000007.14:19706283:T:C
Gene:: POLR1F (Varview), MIR3146 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.19706284T>A, NC_000007.14:g.19706284T>C, NC_000007.13:g.19745907T>A, NC_000007.13:g.19745907T>C

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