SNP Links for Nucleotide (Select 225543523) - SNP

Links from Nucleotide

Items: 1 to 20 of 21188

<< First< Prev

Page of 1060

Next >Last >>

Select item 14915724421.

rs1491572442 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGT [Show Flanks]
Chromosome:: 11:121178518 (GRCh38)
11:121049228 (GRCh37)
Canonical SPDI:: NC_000011.10:121178518:TGT:TGTATGT
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTATGT=0./0 (ALFA)
TGTA=0.00009/1 (GnomAD)
HGVS:: NC_000011.10:g.121178521_121178522insATGT, NC_000011.9:g.121049230_121049231insATGT, NG_011633.1:g.80856_80857insATGT

Select item 14915166942.

rs1491516694 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 11:121179975 (GRCh38)
11:121050685 (GRCh37)
Canonical SPDI:: NC_000011.10:121179975:T:TGT
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.00001/1 (GnomAD)
HGVS:: NC_000011.10:g.121179976_121179977insGT, NC_000011.9:g.121050685_121050686insGT, NG_011633.1:g.82311_82312insGT

Select item 14914689893.

rs1491468989 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:121161542 (GRCh38)
11:121032251 (GRCh37)
Canonical SPDI:: NC_000011.10:121161541:CT:
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0002/1 (1000Genomes)
-=0.0019/8 (GnomAD)
HGVS:: NC_000011.10:g.121161542_121161543del, NC_000011.9:g.121032251_121032252del, NG_011633.1:g.63877_63878del

Select item 14914246984.

rs1491424698 has merged into rs368080288 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:121179985 (GRCh38)
11:121050694 (GRCh37)
Canonical SPDI:: NC_000011.10:121179974:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:121179974:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:121179974:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:121179974:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:121179974:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:121179974:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:121179974:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:121179974:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:121179974:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:121179974:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:121179974:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:121179974:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:121179974:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:121179974:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
T=0.225/9 (GENOME_DK)
HGVS:: NC_000011.10:g.121179985_121179989del, NC_000011.10:g.121179986_121179989del, NC_000011.10:g.121179988_121179989del, NC_000011.10:g.121179989del, NC_000011.10:g.121179989dup, NC_000011.10:g.121179988_121179989dup, NC_000011.10:g.121179987_121179989dup, NC_000011.10:g.121179986_121179989dup, NC_000011.10:g.121179982_121179989dup, NC_000011.10:g.121179981_121179989dup, NC_000011.10:g.121179977_121179989dup, NC_000011.10:g.121179989_121179990insTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.121179989_121179990insTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.121179989_121179990insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.121050694_121050698del, NC_000011.9:g.121050695_121050698del, NC_000011.9:g.121050697_121050698del, NC_000011.9:g.121050698del, NC_000011.9:g.121050698dup, NC_000011.9:g.121050697_121050698dup, NC_000011.9:g.121050696_121050698dup, NC_000011.9:g.121050695_121050698dup, NC_000011.9:g.121050691_121050698dup, NC_000011.9:g.121050690_121050698dup, NC_000011.9:g.121050686_121050698dup, NC_000011.9:g.121050698_121050699insTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.121050698_121050699insTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.121050698_121050699insTTTTTTTTTTTTTTTTTTTTTTTT, NG_011633.1:g.82320_82324del, NG_011633.1:g.82321_82324del, NG_011633.1:g.82323_82324del, NG_011633.1:g.82324del, NG_011633.1:g.82324dup, NG_011633.1:g.82323_82324dup, NG_011633.1:g.82322_82324dup, NG_011633.1:g.82321_82324dup, NG_011633.1:g.82317_82324dup, NG_011633.1:g.82316_82324dup, NG_011633.1:g.82312_82324dup, NG_011633.1:g.82324_82325insTTTTTTTTTTTTTTTTTTTTT, NG_011633.1:g.82324_82325insTTTTTTTTTTTTTTTTTTTTTT, NG_011633.1:g.82324_82325insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914015655.

rs1491401565 has merged into rs3222565 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 11:121178535 (GRCh38)
11:121049244 (GRCh37)
Canonical SPDI:: NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:121178517:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000011.10:g.121178519TG[8], NC_000011.10:g.121178519TG[10], NC_000011.10:g.121178519TG[11], NC_000011.10:g.121178519TG[12], NC_000011.10:g.121178519TG[13], NC_000011.10:g.121178519TG[14], NC_000011.10:g.121178519TG[15], NC_000011.10:g.121178519TG[16], NC_000011.10:g.121178519TG[17], NC_000011.10:g.121178519TG[18], NC_000011.10:g.121178519TG[19], NC_000011.10:g.121178519TG[20], NC_000011.10:g.121178519TG[21], NC_000011.10:g.121178519TG[23], NC_000011.10:g.121178519TG[24], NC_000011.10:g.121178519TG[25], NC_000011.10:g.121178519TG[26], NC_000011.10:g.121178519TG[27], NC_000011.10:g.121178519TG[28], NC_000011.10:g.121178519TG[29], NC_000011.10:g.121178519TG[30], NC_000011.10:g.121178519TG[31], NC_000011.10:g.121178519TG[32], NC_000011.10:g.121178519TG[33], NC_000011.10:g.121178519TG[34], NC_000011.9:g.121049228TG[8], NC_000011.9:g.121049228TG[10], NC_000011.9:g.121049228TG[11], NC_000011.9:g.121049228TG[12], NC_000011.9:g.121049228TG[13], NC_000011.9:g.121049228TG[14], NC_000011.9:g.121049228TG[15], NC_000011.9:g.121049228TG[16], NC_000011.9:g.121049228TG[17], NC_000011.9:g.121049228TG[18], NC_000011.9:g.121049228TG[19], NC_000011.9:g.121049228TG[20], NC_000011.9:g.121049228TG[21], NC_000011.9:g.121049228TG[23], NC_000011.9:g.121049228TG[24], NC_000011.9:g.121049228TG[25], NC_000011.9:g.121049228TG[26], NC_000011.9:g.121049228TG[27], NC_000011.9:g.121049228TG[28], NC_000011.9:g.121049228TG[29], NC_000011.9:g.121049228TG[30], NC_000011.9:g.121049228TG[31], NC_000011.9:g.121049228TG[32], NC_000011.9:g.121049228TG[33], NC_000011.9:g.121049228TG[34], NG_011633.1:g.80854TG[8], NG_011633.1:g.80854TG[10], NG_011633.1:g.80854TG[11], NG_011633.1:g.80854TG[12], NG_011633.1:g.80854TG[13], NG_011633.1:g.80854TG[14], NG_011633.1:g.80854TG[15], NG_011633.1:g.80854TG[16], NG_011633.1:g.80854TG[17], NG_011633.1:g.80854TG[18], NG_011633.1:g.80854TG[19], NG_011633.1:g.80854TG[20], NG_011633.1:g.80854TG[21], NG_011633.1:g.80854TG[23], NG_011633.1:g.80854TG[24], NG_011633.1:g.80854TG[25], NG_011633.1:g.80854TG[26], NG_011633.1:g.80854TG[27], NG_011633.1:g.80854TG[28], NG_011633.1:g.80854TG[29], NG_011633.1:g.80854TG[30], NG_011633.1:g.80854TG[31], NG_011633.1:g.80854TG[32], NG_011633.1:g.80854TG[33], NG_011633.1:g.80854TG[34]

Select item 14913677666.

rs1491367766 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:121178517 (GRCh38)
11:121049226 (GRCh37)
Canonical SPDI:: NC_000011.10:121178516:AG:
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00034/4 (ALFA)
-=0.00146/82 (GnomAD)
HGVS:: NC_000011.10:g.121178517_121178518del, NC_000011.9:g.121049226_121049227del, NG_011633.1:g.80852_80853del

Select item 14913665777.

rs1491366577 has merged into rs34807486 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:121180821 (GRCh38)
11:121051530 (GRCh37)
Canonical SPDI:: NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:121180813:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.365016/1828 (1000Genomes)
HGVS:: NC_000011.10:g.121180821_121180831del, NC_000011.10:g.121180823_121180831del, NC_000011.10:g.121180825_121180831del, NC_000011.10:g.121180826_121180831del, NC_000011.10:g.121180827_121180831del, NC_000011.10:g.121180828_121180831del, NC_000011.10:g.121180829_121180831del, NC_000011.10:g.121180830_121180831del, NC_000011.10:g.121180831del, NC_000011.10:g.121180831dup, NC_000011.10:g.121180830_121180831dup, NC_000011.10:g.121180814_121180831T[20]CTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.121180829_121180831dup, NC_000011.10:g.121180828_121180831dup, NC_000011.10:g.121180814_121180831T[22]CTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.121180814_121180831T[22]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.121180827_121180831dup, NC_000011.10:g.121180826_121180831dup, NC_000011.10:g.121180821_121180831dup, NC_000011.10:g.121180817_121180831dup, NC_000011.10:g.121180815_121180831dup, NC_000011.9:g.121051530_121051540del, NC_000011.9:g.121051532_121051540del, NC_000011.9:g.121051534_121051540del, NC_000011.9:g.121051535_121051540del, NC_000011.9:g.121051536_121051540del, NC_000011.9:g.121051537_121051540del, NC_000011.9:g.121051538_121051540del, NC_000011.9:g.121051539_121051540del, NC_000011.9:g.121051540del, NC_000011.9:g.121051540dup, NC_000011.9:g.121051539_121051540dup, NC_000011.9:g.121051523_121051540T[20]CTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.121051538_121051540dup, NC_000011.9:g.121051537_121051540dup, NC_000011.9:g.121051523_121051540T[22]CTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.121051523_121051540T[22]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.121051536_121051540dup, NC_000011.9:g.121051535_121051540dup, NC_000011.9:g.121051530_121051540dup, NC_000011.9:g.121051526_121051540dup, NC_000011.9:g.121051524_121051540dup, NG_011633.1:g.83156_83166del, NG_011633.1:g.83158_83166del, NG_011633.1:g.83160_83166del, NG_011633.1:g.83161_83166del, NG_011633.1:g.83162_83166del, NG_011633.1:g.83163_83166del, NG_011633.1:g.83164_83166del, NG_011633.1:g.83165_83166del, NG_011633.1:g.83166del, NG_011633.1:g.83166dup, NG_011633.1:g.83165_83166dup, NG_011633.1:g.83149_83166T[20]CTTTTTTTTTTTTTTTTTTT[1], NG_011633.1:g.83164_83166dup, NG_011633.1:g.83163_83166dup, NG_011633.1:g.83149_83166T[22]CTTTTTTTTTTTTTTTTTTTT[1], NG_011633.1:g.83149_83166T[22]CTTTTTTTTTTTTTTTTTTTTT[1], NG_011633.1:g.83162_83166dup, NG_011633.1:g.83161_83166dup, NG_011633.1:g.83156_83166dup, NG_011633.1:g.83152_83166dup, NG_011633.1:g.83150_83166dup

Select item 14913013858.

rs1491301385 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTGTG,CGTGTGTGTG [Show Flanks]
Chromosome:: 11:121178517 (GRCh38)
11:121049227 (GRCh37)
Canonical SPDI:: NC_000011.10:121178517:GTGTG:GTGTGCGTGTG,NC_000011.10:121178517:GTGTG:GTGTGCGTGTGTGTG
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGCGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000011.10:g.121178518_121178522GT[2]GCGTGTG[1], NC_000011.10:g.121178518_121178522GT[2]GCGTGTGTGTG[1], NC_000011.9:g.121049227_121049231GT[2]GCGTGTG[1], NC_000011.9:g.121049227_121049231GT[2]GCGTGTGTGTG[1], NG_011633.1:g.80853_80857GT[2]GCGTGTG[1], NG_011633.1:g.80853_80857GT[2]GCGTGTGTGTG[1]

Select item 14912985869.

rs1491298586 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCTCCCCTCCCCTCCCCTCCT,CCTCCCCTCCCCTCCT [Show Flanks]
Chromosome:: 11:121161542 (GRCh38)
11:121032252 (GRCh37)
Canonical SPDI:: NC_000011.10:121161542::CCTCCCCTCCCCTCCCCTCCT,NC_000011.10:121161542::CCTCCCCTCCCCTCCT
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: CCTCCCCTCCCCTCCT=0.00008/1 (TOMMO)
HGVS:: NC_000011.10:g.121161542_121161543insCCTCCCCTCCCCTCCCCTCCT, NC_000011.10:g.121161542_121161543insCCTCCCCTCCCCTCCT, NC_000011.9:g.121032251_121032252insCCTCCCCTCCCCTCCCCTCCT, NC_000011.9:g.121032251_121032252insCCTCCCCTCCCCTCCT, NG_011633.1:g.63877_63878insCCTCCCCTCCCCTCCCCTCCT, NG_011633.1:g.63877_63878insCCTCCCCTCCCCTCCT

Select item 149128645810.

rs1491286458 has merged into rs58470847 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 11:121122864 (GRCh38)
11:120993573 (GRCh37)
Canonical SPDI:: NC_000011.10:121122852:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:121122852:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:121122852:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:121122852:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:121122852:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:121122852:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0.0002/1 (ALFA)
AA=0.2508/1256 (1000Genomes)
HGVS:: NC_000011.10:g.121122864_121122867del, NC_000011.10:g.121122865_121122867del, NC_000011.10:g.121122866_121122867del, NC_000011.10:g.121122867del, NC_000011.10:g.121122867dup, NC_000011.10:g.121122866_121122867dup, NC_000011.9:g.120993573_120993576del, NC_000011.9:g.120993574_120993576del, NC_000011.9:g.120993575_120993576del, NC_000011.9:g.120993576del, NC_000011.9:g.120993576dup, NC_000011.9:g.120993575_120993576dup, NG_011633.1:g.25199_25202del, NG_011633.1:g.25200_25202del, NG_011633.1:g.25201_25202del, NG_011633.1:g.25202del, NG_011633.1:g.25202dup, NG_011633.1:g.25201_25202dup

Select item 149125929311.

rs1491259293 has merged into rs3222344 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 11:121119018 (GRCh38)
11:120989727 (GRCh37)
Canonical SPDI:: NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:121118993:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACACACACA=0./0 (ALFA)
-=0.00014/2 (TOMMO)
HGVS:: NC_000011.10:g.121118994CA[12], NC_000011.10:g.121118994CA[13], NC_000011.10:g.121118994CA[14], NC_000011.10:g.121118994CA[15], NC_000011.10:g.121118994CA[16], NC_000011.10:g.121118994CA[18], NC_000011.10:g.121118994CA[19], NC_000011.10:g.121118994CA[20], NC_000011.10:g.121118994CA[21], NC_000011.10:g.121118994CA[22], NC_000011.10:g.121118994CA[24], NC_000011.10:g.121118994CA[25], NC_000011.10:g.121118994CA[26], NC_000011.10:g.121118994CA[27], NC_000011.10:g.121118994CA[28], NC_000011.9:g.120989703CA[12], NC_000011.9:g.120989703CA[13], NC_000011.9:g.120989703CA[14], NC_000011.9:g.120989703CA[15], NC_000011.9:g.120989703CA[16], NC_000011.9:g.120989703CA[18], NC_000011.9:g.120989703CA[19], NC_000011.9:g.120989703CA[20], NC_000011.9:g.120989703CA[21], NC_000011.9:g.120989703CA[22], NC_000011.9:g.120989703CA[24], NC_000011.9:g.120989703CA[25], NC_000011.9:g.120989703CA[26], NC_000011.9:g.120989703CA[27], NC_000011.9:g.120989703CA[28], NG_011633.1:g.21329CA[12], NG_011633.1:g.21329CA[13], NG_011633.1:g.21329CA[14], NG_011633.1:g.21329CA[15], NG_011633.1:g.21329CA[16], NG_011633.1:g.21329CA[18], NG_011633.1:g.21329CA[19], NG_011633.1:g.21329CA[20], NG_011633.1:g.21329CA[21], NG_011633.1:g.21329CA[22], NG_011633.1:g.21329CA[24], NG_011633.1:g.21329CA[25], NG_011633.1:g.21329CA[26], NG_011633.1:g.21329CA[27], NG_011633.1:g.21329CA[28]

Select item 149119931812.

rs1491199318 has merged into rs33961345 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 11:121134349 (GRCh38)
11:121005058 (GRCh37)
Canonical SPDI:: NC_000011.10:121134347:CGC:C,NC_000011.10:121134347:CGC:CGCGC
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGC=0./0 (ALFA)
CG=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.121134349_121134350del, NC_000011.10:g.121134349_121134350dup, NC_000011.9:g.121005058_121005059del, NC_000011.9:g.121005058_121005059dup, NG_011633.1:g.36684_36685del, NG_011633.1:g.36684_36685dup

Select item 149115551613.

rs1491155516 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACACACACACACACA,AACACACATACACACACACACACA [Show Flanks]
Chromosome:: 11:121118994 (GRCh38)
11:120989704 (GRCh37)
Canonical SPDI:: NC_000011.10:121118994:ACACACACACACACA:ACACACACACACACAAACACACACACACACA,NC_000011.10:121118994:ACACACACACACACA:ACACACACACACACAAACACACATACACACACACACACA
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACAAACACACATACACACACACACACA=0./0 (ALFA)
ACACACACACACACAAACACACAT=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.121118995_121119009AC[7]AAACACACACACACACA[1], NC_000011.10:g.121118995_121119009AC[7]AAACACACATACACACACACACACA[1], NC_000011.9:g.120989704_120989718AC[7]AAACACACACACACACA[1], NC_000011.9:g.120989704_120989718AC[7]AAACACACATACACACACACACACA[1], NG_011633.1:g.21330_21344AC[7]AAACACACACACACACA[1], NG_011633.1:g.21330_21344AC[7]AAACACACATACACACACACACACA[1]

Select item 149110943514.

rs1491109435 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTTTTTTTTTTTTTTTATTCCTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 149104271115.

rs1491042711 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:121122694 (GRCh38)
11:120993403 (GRCh37)
Canonical SPDI:: NC_000011.10:121122692:AGA:A
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.1837/2179 (ALFA)
-=0.02542/15 (NorthernSweden)
-=0.23787/20701 (GnomAD)
-=0.29439/4840 (TOMMO)
HGVS:: NC_000011.10:g.121122694_121122695del, NC_000011.9:g.120993403_120993404del, NG_011633.1:g.25029_25030del

Select item 149100263416.

rs1491002634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:121150675 (GRCh38)
11:121021384 (GRCh37)
Canonical SPDI:: NC_000011.10:121150674:C:T
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0102/45 (ALFA)
HGVS:: NC_000011.10:g.121150675C>T, NC_000011.9:g.121021384C>T, NG_011633.1:g.53010C>T

Select item 149098492017.

rs1490984920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:121183980 (GRCh38)
11:121054689 (GRCh37)
Canonical SPDI:: NC_000011.10:121183979:G:T
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.121183980G>T, NC_000011.9:g.121054689G>T, NG_011633.1:g.86315G>T

Select item 149098105618.

rs1490981056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:121128758 (GRCh38)
11:120999467 (GRCh37)
Canonical SPDI:: NC_000011.10:121128757:G:C
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.121128758G>C, NC_000011.9:g.120999467G>C, NG_011633.1:g.31093G>C

Select item 149091329819.

rs1490913298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:121187363 (GRCh38)
11:121058072 (GRCh37)
Canonical SPDI:: NC_000011.10:121187362:C:T
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.121187363C>T, NC_000011.9:g.121058072C>T, NG_011633.1:g.89698C>T

Select item 149090176320.

rs1490901763 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCTGGGAAA [Show Flanks]
Chromosome:: 11:121143814 (GRCh38)
11:121014524 (GRCh37)
Canonical SPDI:: NC_000011.10:121143814::CCTGGGAAA
Gene:: TECTA (Varview), TBCEL-TECTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCTGGGAAA=0./0 (ALFA)
CCTGGGAAA=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.121143814_121143815insCCTGGGAAA, NC_000011.9:g.121014523_121014524insCCTGGGAAA, NG_011633.1:g.46149_46150insCCTGGGAAA

<< First< Prev

Page of 1060

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 21188

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity