SNP Links for Gene (Select 5429) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915358541.

rs1491535854 has merged into rs540143863 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:43605454 (GRCh38)
6:43573191 (GRCh37)
Canonical SPDI:: NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43605443:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.42712/2139 (1000Genomes)
HGVS:: NC_000006.12:g.43605454_43605467del, NC_000006.12:g.43605455_43605467del, NC_000006.12:g.43605456_43605467del, NC_000006.12:g.43605457_43605467del, NC_000006.12:g.43605458_43605467del, NC_000006.12:g.43605459_43605467del, NC_000006.12:g.43605460_43605467del, NC_000006.12:g.43605461_43605467del, NC_000006.12:g.43605462_43605467del, NC_000006.12:g.43605463_43605467del, NC_000006.12:g.43605464_43605467del, NC_000006.12:g.43605465_43605467del, NC_000006.12:g.43605466_43605467del, NC_000006.12:g.43605467del, NC_000006.12:g.43605467dup, NC_000006.12:g.43605466_43605467dup, NC_000006.12:g.43605465_43605467dup, NC_000006.12:g.43605464_43605467dup, NC_000006.12:g.43605463_43605467dup, NC_000006.12:g.43605462_43605467dup, NC_000006.12:g.43605461_43605467dup, NC_000006.12:g.43605460_43605467dup, NC_000006.12:g.43605459_43605467dup, NC_000006.12:g.43605458_43605467dup, NC_000006.12:g.43605457_43605467dup, NC_000006.12:g.43605456_43605467dup, NC_000006.12:g.43605455_43605467dup, NC_000006.12:g.43605452_43605467dup, NC_000006.11:g.43573191_43573204del, NC_000006.11:g.43573192_43573204del, NC_000006.11:g.43573193_43573204del, NC_000006.11:g.43573194_43573204del, NC_000006.11:g.43573195_43573204del, NC_000006.11:g.43573196_43573204del, NC_000006.11:g.43573197_43573204del, NC_000006.11:g.43573198_43573204del, NC_000006.11:g.43573199_43573204del, NC_000006.11:g.43573200_43573204del, NC_000006.11:g.43573201_43573204del, NC_000006.11:g.43573202_43573204del, NC_000006.11:g.43573203_43573204del, NC_000006.11:g.43573204del, NC_000006.11:g.43573204dup, NC_000006.11:g.43573203_43573204dup, NC_000006.11:g.43573202_43573204dup, NC_000006.11:g.43573201_43573204dup, NC_000006.11:g.43573200_43573204dup, NC_000006.11:g.43573199_43573204dup, NC_000006.11:g.43573198_43573204dup, NC_000006.11:g.43573197_43573204dup, NC_000006.11:g.43573196_43573204dup, NC_000006.11:g.43573195_43573204dup, NC_000006.11:g.43573194_43573204dup, NC_000006.11:g.43573193_43573204dup, NC_000006.11:g.43573192_43573204dup, NC_000006.11:g.43573189_43573204dup, NG_009252.1:g.34314_34327del, NG_009252.1:g.34315_34327del, NG_009252.1:g.34316_34327del, NG_009252.1:g.34317_34327del, NG_009252.1:g.34318_34327del, NG_009252.1:g.34319_34327del, NG_009252.1:g.34320_34327del, NG_009252.1:g.34321_34327del, NG_009252.1:g.34322_34327del, NG_009252.1:g.34323_34327del, NG_009252.1:g.34324_34327del, NG_009252.1:g.34325_34327del, NG_009252.1:g.34326_34327del, NG_009252.1:g.34327del, NG_009252.1:g.34327dup, NG_009252.1:g.34326_34327dup, NG_009252.1:g.34325_34327dup, NG_009252.1:g.34324_34327dup, NG_009252.1:g.34323_34327dup, NG_009252.1:g.34322_34327dup, NG_009252.1:g.34321_34327dup, NG_009252.1:g.34320_34327dup, NG_009252.1:g.34319_34327dup, NG_009252.1:g.34318_34327dup, NG_009252.1:g.34317_34327dup, NG_009252.1:g.34316_34327dup, NG_009252.1:g.34315_34327dup, NG_009252.1:g.34312_34327dup

Select item 14914260382.

rs1491426038 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:43605467 (GRCh38)
6:43573204 (GRCh37)
Canonical SPDI:: NC_000006.12:43605466:TG:
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.43605467_43605468del, NC_000006.11:g.43573204_43573205del, NG_009252.1:g.34327_34328del

Select item 14913962983.

rs1491396298 has merged into rs147153180 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 6:43579916 (GRCh38)
6:43547653 (GRCh37)
Canonical SPDI:: NC_000006.12:43579914:AAA:A,NC_000006.12:43579914:AAA:AA,NC_000006.12:43579914:AAA:AAAA,NC_000006.12:43579914:AAA:AAAAA
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00142/24 (TOMMO)
A=0.0202/37 (Korea1K)
HGVS:: NC_000006.12:g.43579916_43579917del, NC_000006.12:g.43579917del, NC_000006.12:g.43579917dup, NC_000006.12:g.43579916_43579917dup, NC_000006.11:g.43547653_43547654del, NC_000006.11:g.43547654del, NC_000006.11:g.43547654dup, NC_000006.11:g.43547653_43547654dup, NG_051658.1:g.1160_1161del, NG_051658.1:g.1161del, NG_051658.1:g.1161dup, NG_051658.1:g.1160_1161dup, NG_009252.1:g.8776_8777del, NG_009252.1:g.8777del, NG_009252.1:g.8777dup, NG_009252.1:g.8776_8777dup

Select item 14913451414.

rs1491345141 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:43619364 (GRCh38)
6:43587101 (GRCh37)
Canonical SPDI:: NC_000006.12:43619363:CA:
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.43619364_43619365del, NC_000006.11:g.43587101_43587102del, NG_009252.1:g.48224_48225del, NM_006502.3:c.*4807_*4808del, NM_006502.2:c.*4807_*4808del, NM_001291970.2:c.*5633_*5634del, NM_001291970.1:c.*5633_*5634del, NM_001291969.2:c.*4807_*4808del, NM_001291969.1:c.*4807_*4808del, XM_047418900.1:c.*4807_*4808del

Select item 14913276335.

rs1491327633 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:43615660 (GRCh38)
6:43583397 (GRCh37)
Canonical SPDI:: NC_000006.12:43615659:AG:
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.43615660_43615661del, NC_000006.11:g.43583397_43583398del, NG_009252.1:g.44520_44521del, NM_006502.3:c.*1103_*1104del, NM_006502.2:c.*1103_*1104del, NM_001291970.2:c.*1929_*1930del, NM_001291970.1:c.*1929_*1930del, NM_001291969.2:c.*1103_*1104del, NM_001291969.1:c.*1103_*1104del, XM_047418900.1:c.*1103_*1104del

Select item 14913086356.

rs1491308635 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:43579715 (GRCh38)
6:43547452 (GRCh37)
Canonical SPDI:: NC_000006.12:43579712:TGTG:TG
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43579713TG[1], NC_000006.11:g.43547450TG[1], NG_051658.1:g.1360CA[1], NG_009252.1:g.8573TG[1]

Select item 14912869277.

rs1491286927 has merged into rs60046548 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:43619374 (GRCh38)
6:43587111 (GRCh37)
Canonical SPDI:: NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43619364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.1713/858 (1000Genomes)
HGVS:: NC_000006.12:g.43619374_43619394del, NC_000006.12:g.43619377_43619394del, NC_000006.12:g.43619378_43619394del, NC_000006.12:g.43619379_43619394del, NC_000006.12:g.43619380_43619394del, NC_000006.12:g.43619381_43619394del, NC_000006.12:g.43619382_43619394del, NC_000006.12:g.43619383_43619394del, NC_000006.12:g.43619384_43619394del, NC_000006.12:g.43619385_43619394del, NC_000006.12:g.43619386_43619394del, NC_000006.12:g.43619387_43619394del, NC_000006.12:g.43619388_43619394del, NC_000006.12:g.43619389_43619394del, NC_000006.12:g.43619390_43619394del, NC_000006.12:g.43619391_43619394del, NC_000006.12:g.43619392_43619394del, NC_000006.12:g.43619393_43619394del, NC_000006.12:g.43619394del, NC_000006.12:g.43619394dup, NC_000006.12:g.43619393_43619394dup, NC_000006.12:g.43619392_43619394dup, NC_000006.12:g.43619391_43619394dup, NC_000006.12:g.43619390_43619394dup, NC_000006.12:g.43619389_43619394dup, NC_000006.12:g.43619388_43619394dup, NC_000006.12:g.43619387_43619394dup, NC_000006.12:g.43619386_43619394dup, NC_000006.12:g.43619385_43619394dup, NC_000006.11:g.43587111_43587131del, NC_000006.11:g.43587114_43587131del, NC_000006.11:g.43587115_43587131del, NC_000006.11:g.43587116_43587131del, NC_000006.11:g.43587117_43587131del, NC_000006.11:g.43587118_43587131del, NC_000006.11:g.43587119_43587131del, NC_000006.11:g.43587120_43587131del, NC_000006.11:g.43587121_43587131del, NC_000006.11:g.43587122_43587131del, NC_000006.11:g.43587123_43587131del, NC_000006.11:g.43587124_43587131del, NC_000006.11:g.43587125_43587131del, NC_000006.11:g.43587126_43587131del, NC_000006.11:g.43587127_43587131del, NC_000006.11:g.43587128_43587131del, NC_000006.11:g.43587129_43587131del, NC_000006.11:g.43587130_43587131del, NC_000006.11:g.43587131del, NC_000006.11:g.43587131dup, NC_000006.11:g.43587130_43587131dup, NC_000006.11:g.43587129_43587131dup, NC_000006.11:g.43587128_43587131dup, NC_000006.11:g.43587127_43587131dup, NC_000006.11:g.43587126_43587131dup, NC_000006.11:g.43587125_43587131dup, NC_000006.11:g.43587124_43587131dup, NC_000006.11:g.43587123_43587131dup, NC_000006.11:g.43587122_43587131dup, NG_009252.1:g.48234_48254del, NG_009252.1:g.48237_48254del, NG_009252.1:g.48238_48254del, NG_009252.1:g.48239_48254del, NG_009252.1:g.48240_48254del, NG_009252.1:g.48241_48254del, NG_009252.1:g.48242_48254del, NG_009252.1:g.48243_48254del, NG_009252.1:g.48244_48254del, NG_009252.1:g.48245_48254del, NG_009252.1:g.48246_48254del, NG_009252.1:g.48247_48254del, NG_009252.1:g.48248_48254del, NG_009252.1:g.48249_48254del, NG_009252.1:g.48250_48254del, NG_009252.1:g.48251_48254del, NG_009252.1:g.48252_48254del, NG_009252.1:g.48253_48254del, NG_009252.1:g.48254del, NG_009252.1:g.48254dup, NG_009252.1:g.48253_48254dup, NG_009252.1:g.48252_48254dup, NG_009252.1:g.48251_48254dup, NG_009252.1:g.48250_48254dup, NG_009252.1:g.48249_48254dup, NG_009252.1:g.48248_48254dup, NG_009252.1:g.48247_48254dup, NG_009252.1:g.48246_48254dup, NG_009252.1:g.48245_48254dup, NM_006502.3:c.*4817_*4837del, NM_006502.3:c.*4820_*4837del, NM_006502.3:c.*4821_*4837del, NM_006502.3:c.*4822_*4837del, NM_006502.3:c.*4823_*4837del, NM_006502.3:c.*4824_*4837del, NM_006502.3:c.*4825_*4837del, NM_006502.3:c.*4826_*4837del, NM_006502.3:c.*4827_*4837del, NM_006502.3:c.*4828_*4837del, NM_006502.3:c.*4829_*4837del, NM_006502.3:c.*4830_*4837del, NM_006502.3:c.*4831_*4837del, NM_006502.3:c.*4832_*4837del, NM_006502.3:c.*4833_*4837del, NM_006502.3:c.*4834_*4837del, NM_006502.3:c.*4835_*4837del, NM_006502.3:c.*4836_*4837del, NM_006502.3:c.*4837del, NM_006502.3:c.*4837dup, NM_006502.3:c.*4836_*4837dup, NM_006502.3:c.*4835_*4837dup, NM_006502.3:c.*4834_*4837dup, NM_006502.3:c.*4833_*4837dup, NM_006502.3:c.*4832_*4837dup, NM_006502.3:c.*4831_*4837dup, NM_006502.3:c.*4830_*4837dup, NM_006502.3:c.*4829_*4837dup, NM_006502.3:c.*4828_*4837dup, NM_006502.2:c.*4817_*4837del, NM_006502.2:c.*4820_*4837del, NM_006502.2:c.*4821_*4837del, NM_006502.2:c.*4822_*4837del, NM_006502.2:c.*4823_*4837del, NM_006502.2:c.*4824_*4837del, NM_006502.2:c.*4825_*4837del, NM_006502.2:c.*4826_*4837del, NM_006502.2:c.*4827_*4837del, NM_006502.2:c.*4828_*4837del, NM_006502.2:c.*4829_*4837del, NM_006502.2:c.*4830_*4837del, NM_006502.2:c.*4831_*4837del, NM_006502.2:c.*4832_*4837del, NM_006502.2:c.*4833_*4837del, NM_006502.2:c.*4834_*4837del, NM_006502.2:c.*4835_*4837del, NM_006502.2:c.*4836_*4837del, NM_006502.2:c.*4837del, NM_006502.2:c.*4837dup, NM_006502.2:c.*4836_*4837dup, NM_006502.2:c.*4835_*4837dup, NM_006502.2:c.*4834_*4837dup, NM_006502.2:c.*4833_*4837dup, NM_006502.2:c.*4832_*4837dup, NM_006502.2:c.*4831_*4837dup, NM_006502.2:c.*4830_*4837dup, NM_006502.2:c.*4829_*4837dup, NM_006502.2:c.*4828_*4837dup, NM_001291970.2:c.*5643_*5663del, NM_001291970.2:c.*5646_*5663del, NM_001291970.2:c.*5647_*5663del, NM_001291970.2:c.*5648_*5663del, NM_001291970.2:c.*5649_*5663del, NM_001291970.2:c.*5650_*5663del, NM_001291970.2:c.*5651_*5663del, NM_001291970.2:c.*5652_*5663del, NM_001291970.2:c.*5653_*5663del, NM_001291970.2:c.*5654_*5663del, NM_001291970.2:c.*5655_*5663del, NM_001291970.2:c.*5656_*5663del, NM_001291970.2:c.*5657_*5663del, NM_001291970.2:c.*5658_*5663del, NM_001291970.2:c.*5659_*5663del, NM_001291970.2:c.*5660_*5663del, NM_001291970.2:c.*5661_*5663del, NM_001291970.2:c.*5662_*5663del, NM_001291970.2:c.*5663del, NM_001291970.2:c.*5663dup, NM_001291970.2:c.*5662_*5663dup, NM_001291970.2:c.*5661_*5663dup, NM_001291970.2:c.*5660_*5663dup, NM_001291970.2:c.*5659_*5663dup, NM_001291970.2:c.*5658_*5663dup, NM_001291970.2:c.*5657_*5663dup, NM_001291970.2:c.*5656_*5663dup, NM_001291970.2:c.*5655_*5663dup, NM_001291970.2:c.*5654_*5663dup, NM_001291970.1:c.*5643_*5663del, NM_001291970.1:c.*5646_*5663del, NM_001291970.1:c.*5647_*5663del, NM_001291970.1:c.*5648_*5663del, NM_001291970.1:c.*5649_*5663del, NM_001291970.1:c.*5650_*5663del, NM_001291970.1:c.*5651_*5663del, NM_001291970.1:c.*5652_*5663del, NM_001291970.1:c.*5653_*5663del, NM_001291970.1:c.*5654_*5663del, NM_001291970.1:c.*5655_*5663del, NM_001291970.1:c.*5656_*5663del, NM_001291970.1:c.*5657_*5663del, NM_001291970.1:c.*5658_*5663del, NM_001291970.1:c.*5659_*5663del, NM_001291970.1:c.*5660_*5663del, NM_001291970.1:c.*5661_*5663del, NM_001291970.1:c.*5662_*5663del, NM_001291970.1:c.*5663del, NM_001291970.1:c.*5663dup, NM_001291970.1:c.*5662_*5663dup, NM_001291970.1:c.*5661_*5663dup, NM_001291970.1:c.*5660_*5663dup, NM_001291970.1:c.*5659_*5663dup, NM_001291970.1:c.*5658_*5663dup, NM_001291970.1:c.*5657_*5663dup, NM_001291970.1:c.*5656_*5663dup, NM_001291970.1:c.*5655_*5663dup, NM_001291970.1:c.*5654_*5663dup, NM_001291969.2:c.*4817_*4837del, NM_001291969.2:c.*4820_*4837del, NM_001291969.2:c.*4821_*4837del, NM_001291969.2:c.*4822_*4837del, NM_001291969.2:c.*4823_*4837del, NM_001291969.2:c.*4824_*4837del, NM_001291969.2:c.*4825_*4837del, NM_001291969.2:c.*4826_*4837del, NM_001291969.2:c.*4827_*4837del, NM_001291969.2:c.*4828_*4837del, NM_001291969.2:c.*4829_*4837del, NM_001291969.2:c.*4830_*4837del, NM_001291969.2:c.*4831_*4837del, NM_001291969.2:c.*4832_*4837del, NM_001291969.2:c.*4833_*4837del, NM_001291969.2:c.*4834_*4837del, NM_001291969.2:c.*4835_*4837del, NM_001291969.2:c.*4836_*4837del, NM_001291969.2:c.*4837del, NM_001291969.2:c.*4837dup, NM_001291969.2:c.*4836_*4837dup, NM_001291969.2:c.*4835_*4837dup, NM_001291969.2:c.*4834_*4837dup, NM_001291969.2:c.*4833_*4837dup, NM_001291969.2:c.*4832_*4837dup, NM_001291969.2:c.*4831_*4837dup, NM_001291969.2:c.*4830_*4837dup, NM_001291969.2:c.*4829_*4837dup, NM_001291969.2:c.*4828_*4837dup, NM_001291969.1:c.*4817_*4837del, NM_001291969.1:c.*4820_*4837del, NM_001291969.1:c.*4821_*4837del, NM_001291969.1:c.*4822_*4837del, NM_001291969.1:c.*4823_*4837del, NM_001291969.1:c.*4824_*4837del, NM_001291969.1:c.*4825_*4837del, NM_001291969.1:c.*4826_*4837del, NM_001291969.1:c.*4827_*4837del, NM_001291969.1:c.*4828_*4837del, NM_001291969.1:c.*4829_*4837del, NM_001291969.1:c.*4830_*4837del, NM_001291969.1:c.*4831_*4837del, NM_001291969.1:c.*4832_*4837del, NM_001291969.1:c.*4833_*4837del, NM_001291969.1:c.*4834_*4837del, NM_001291969.1:c.*4835_*4837del, NM_001291969.1:c.*4836_*4837del, NM_001291969.1:c.*4837del, NM_001291969.1:c.*4837dup, NM_001291969.1:c.*4836_*4837dup, NM_001291969.1:c.*4835_*4837dup, NM_001291969.1:c.*4834_*4837dup, NM_001291969.1:c.*4833_*4837dup, NM_001291969.1:c.*4832_*4837dup, NM_001291969.1:c.*4831_*4837dup, NM_001291969.1:c.*4830_*4837dup, NM_001291969.1:c.*4829_*4837dup, NM_001291969.1:c.*4828_*4837dup, XM_047418900.1:c.*4817_*4837del, XM_047418900.1:c.*4820_*4837del, XM_047418900.1:c.*4821_*4837del, XM_047418900.1:c.*4822_*4837del, XM_047418900.1:c.*4823_*4837del, XM_047418900.1:c.*4824_*4837del, XM_047418900.1:c.*4825_*4837del, XM_047418900.1:c.*4826_*4837del, XM_047418900.1:c.*4827_*4837del, XM_047418900.1:c.*4828_*4837del, XM_047418900.1:c.*4829_*4837del, XM_047418900.1:c.*4830_*4837del, XM_047418900.1:c.*4831_*4837del, XM_047418900.1:c.*4832_*4837del, XM_047418900.1:c.*4833_*4837del, XM_047418900.1:c.*4834_*4837del, XM_047418900.1:c.*4835_*4837del, XM_047418900.1:c.*4836_*4837del, XM_047418900.1:c.*4837del, XM_047418900.1:c.*4837dup, XM_047418900.1:c.*4836_*4837dup, XM_047418900.1:c.*4835_*4837dup, XM_047418900.1:c.*4834_*4837dup, XM_047418900.1:c.*4833_*4837dup, XM_047418900.1:c.*4832_*4837dup, XM_047418900.1:c.*4831_*4837dup, XM_047418900.1:c.*4830_*4837dup, XM_047418900.1:c.*4829_*4837dup, XM_047418900.1:c.*4828_*4837dup

Select item 14912484948.

rs1491248494 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 6:43615661 (GRCh38)
6:43583398 (GRCh37)
Canonical SPDI:: NC_000006.12:43615660:GGG:GG,NC_000006.12:43615660:GGG:GGGG
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.000084/1 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.43615663del, NC_000006.12:g.43615663dup, NC_000006.11:g.43583400del, NC_000006.11:g.43583400dup, NG_009252.1:g.44523del, NG_009252.1:g.44523dup, NM_006502.3:c.*1106del, NM_006502.3:c.*1106dup, NM_006502.2:c.*1106del, NM_006502.2:c.*1106dup, NM_001291970.2:c.*1932del, NM_001291970.2:c.*1932dup, NM_001291970.1:c.*1932del, NM_001291970.1:c.*1932dup, NM_001291969.2:c.*1106del, NM_001291969.2:c.*1106dup, NM_001291969.1:c.*1106del, NM_001291969.1:c.*1106dup, XM_047418900.1:c.*1106del, XM_047418900.1:c.*1106dup

Select item 14911701589.

rs1491170158 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGG [Show Flanks]
Chromosome:: 6:43579713 (GRCh38)
6:43547451 (GRCh37)
Canonical SPDI:: NC_000006.12:43579713:GTGG:GTGGTGG
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGGTGG=0./0 (ALFA)
GTG=0.000004/1 (TOPMED)
GTG=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43579715_43579717dup, NC_000006.11:g.43547452_43547454dup, NG_051658.1:g.1360_1362dup, NG_009252.1:g.8575_8577dup

Select item 149115388310.

rs1491153883 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT,CTT [Show Flanks]
Chromosome:: 6:43605444 (GRCh38)
6:43573182 (GRCh37)
Canonical SPDI:: NC_000006.12:43605444:TT:TTATT,NC_000006.12:43605444:TT:TTCTT
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.00259/30 (ALFA)
HGVS:: NC_000006.12:g.43605446_43605447insATT, NC_000006.12:g.43605446_43605447insCTT, NC_000006.11:g.43573183_43573184insATT, NC_000006.11:g.43573183_43573184insCTT, NG_009252.1:g.34306_34307insATT, NG_009252.1:g.34306_34307insCTT

Select item 149099523111.

rs1490995231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:43581014 (GRCh38)
6:43548751 (GRCh37)
Canonical SPDI:: NC_000006.12:43581013:G:A,NC_000006.12:43581013:G:C,NC_000006.12:43581013:G:T
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.02595/74 (KOREAN)
HGVS:: NC_000006.12:g.43581014G>A, NC_000006.12:g.43581014G>C, NC_000006.12:g.43581014G>T, NC_000006.11:g.43548751G>A, NC_000006.11:g.43548751G>C, NC_000006.11:g.43548751G>T, NG_051658.1:g.62C>T, NG_051658.1:g.62C>G, NG_051658.1:g.62C>A, NG_009252.1:g.9874G>A, NG_009252.1:g.9874G>C, NG_009252.1:g.9874G>T

Select item 149086400212.

rs1490864002 [Homo sapiens]

Variant type:: DEL
Alleles:: ATATT>- [Show Flanks]
Chromosome:: 6:43592165 (GRCh38)
6:43559902 (GRCh37)
Canonical SPDI:: NC_000006.12:43592164:ATATT:
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.43592165_43592169del, NC_000006.11:g.43559902_43559906del, NG_009252.1:g.21025_21029del

Select item 149080597913.

rs1490805979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43616299 (GRCh38)
6:43584036 (GRCh37)
Canonical SPDI:: NC_000006.12:43616298:A:G
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.43616299A>G, NC_000006.11:g.43584036A>G, NG_009252.1:g.45159A>G, NM_006502.3:c.*1742A>G, NM_006502.2:c.*1742A>G, NM_001291970.2:c.*2568A>G, NM_001291970.1:c.*2568A>G, NM_001291969.2:c.*1742A>G, NM_001291969.1:c.*1742A>G, XM_047418900.1:c.*1742A>G

Select item 149076713514.

rs1490767135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:43586449 (GRCh38)
6:43554186 (GRCh37)
Canonical SPDI:: NC_000006.12:43586448:C:G
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00035/6 (TOMMO)
G=0.00055/1 (Korea1K)
G=0.00137/4 (KOREAN)
HGVS:: NC_000006.12:g.43586449C>G, NC_000006.11:g.43554186C>G, NG_009252.1:g.15309C>G

Select item 149067027915.

rs1490670279 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:43584581 (GRCh38)
6:43552318 (GRCh37)
Canonical SPDI:: NC_000006.12:43584580:T:C,NC_000006.12:43584580:T:G
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.43584581T>C, NC_000006.12:g.43584581T>G, NC_000006.11:g.43552318T>C, NC_000006.11:g.43552318T>G, NG_009252.1:g.13441T>C, NG_009252.1:g.13441T>G

Select item 149061390216.

rs1490613902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43585636 (GRCh38)
6:43553373 (GRCh37)
Canonical SPDI:: NC_000006.12:43585635:T:C
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000016/2 (GnomAD)
HGVS:: NC_000006.12:g.43585636T>C, NC_000006.11:g.43553373T>C, NG_009252.1:g.14496T>C

Select item 149054826117.

rs1490548261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43615033 (GRCh38)
6:43582770 (GRCh37)
Canonical SPDI:: NC_000006.12:43615032:C:T
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000057/8 (GnomAD)
T=0.000079/21 (TOPMED)
HGVS:: NC_000006.12:g.43615033C>T, NC_000006.11:g.43582770C>T, NG_009252.1:g.43893C>T, NM_006502.3:c.*476C>T, NM_006502.2:c.*476C>T, NM_001291970.2:c.*1302C>T, NM_001291970.1:c.*1302C>T, NM_001291969.2:c.*476C>T, NM_001291969.1:c.*476C>T, XM_047418900.1:c.*476C>T

Select item 149053254118.

rs1490532541 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTACAGGTG>- [Show Flanks]
Chromosome:: 6:43612483 (GRCh38)
6:43580220 (GRCh37)
Canonical SPDI:: NC_000006.12:43612481:GATTACAGGTG:G
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.43612483_43612492del, NC_000006.11:g.43580220_43580229del, NG_009252.1:g.41343_41352del

Select item 149043414919.

rs1490434149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:43596801 (GRCh38)
6:43564538 (GRCh37)
Canonical SPDI:: NC_000006.12:43596800:T:G
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43596801T>G, NC_000006.11:g.43564538T>G, NG_009252.1:g.25661T>G

Select item 149037909720.

rs1490379097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43586377 (GRCh38)
6:43554114 (GRCh37)
Canonical SPDI:: NC_000006.12:43586376:A:G
Gene:: POLH (Varview), POLR1C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43586377A>G, NC_000006.11:g.43554114A>G, NG_009252.1:g.15237A>G

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity