SNP Links for Nucleotide (Select 568815369) - SNP

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Select item 14915891001.

rs1491589100 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 22:36821537 (GRCh38)
22:37217581 (GRCh37)
Canonical SPDI:: NC_000022.11:36821536:TG:
Validated:: by frequency,by cluster
MAF:: -=0.00068/3 (TOMMO)
-=0.14404/7179 (GnomAD)
HGVS:: NC_000022.11:g.36821537_36821538del, NC_000022.10:g.37217581_37217582del, NT_187631.1:g.42324_42325del

Select item 14915698702.

rs1491569870 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGGGGGGGGGGT,GGT [Show Flanks]
Chromosome:: 22:36821547 (GRCh38)
22:37217592 (GRCh37)
Canonical SPDI:: NC_000022.11:36821547::GGGGGGGGGGGT,NC_000022.11:36821547::GGT
Validated:: by frequency
MAF:: GGGGGGGGGGGT=0.000008/1 (GnomAD)
HGVS:: NC_000022.11:g.36821547_36821548insGGGGGGGGGGGT, NC_000022.11:g.36821547_36821548insGGT, NC_000022.10:g.37217591_37217592insGGGGGGGGGGGT, NC_000022.10:g.37217591_37217592insGGT, NT_187631.1:g.42334_42335insGGGGGGGGGGGT, NT_187631.1:g.42334_42335insGGT

Select item 14915683373.

rs1491568337 has merged into rs761758789 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 22:36838206 (GRCh38)
22:37234249 (GRCh37)
Canonical SPDI:: NC_000022.11:36838197:GGGGGGGGGGGG:GGGGGGGG,NC_000022.11:36838197:GGGGGGGGGGGG:GGGGGGGGG,NC_000022.11:36838197:GGGGGGGGGGGG:GGGGGGGGGG,NC_000022.11:36838197:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000022.11:36838197:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000022.11:36838197:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.00367/61 (TOMMO)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000022.11:g.36838206_36838209del, NC_000022.11:g.36838207_36838209del, NC_000022.11:g.36838208_36838209del, NC_000022.11:g.36838209del, NC_000022.11:g.36838209dup, NC_000022.11:g.36838206_36838209dup, NC_000022.10:g.37234249_37234252del, NC_000022.10:g.37234250_37234252del, NC_000022.10:g.37234251_37234252del, NC_000022.10:g.37234252del, NC_000022.10:g.37234252dup, NC_000022.10:g.37234249_37234252dup, NT_187631.1:g.58993_58996del, NT_187631.1:g.58994_58996del, NT_187631.1:g.58995_58996del, NT_187631.1:g.58996del, NT_187631.1:g.58996dup, NT_187631.1:g.58993_58996dup

Select item 14915582944.

rs1491558294 has merged into rs10605026 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTTT [Show Flanks]
Chromosome:: 22:36816045 (GRCh38)
22:37212089 (GRCh37)
Canonical SPDI:: NC_000022.11:36816042:TTTT:TT,NC_000022.11:36816042:TTTT:TTT,NC_000022.11:36816042:TTTT:TTTTTT
Gene:: PVALB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.141526/2308 (ALFA)
-=0.030117/503 (TOMMO)
-=0.052365/31 (NorthernSweden)
-=0.125/5 (GENOME_DK)
-=0.240699/30111 (GnomAD)
-=0.280137/1794 (1000Genomes)
HGVS:: NC_000022.11:g.36816045_36816046del, NC_000022.11:g.36816046del, NC_000022.11:g.36816045_36816046dup, NC_000022.10:g.37212089_37212090del, NC_000022.10:g.37212090del, NC_000022.10:g.37212089_37212090dup, NT_187631.1:g.36832_36833del, NT_187631.1:g.36833del, NT_187631.1:g.36832_36833dup

Select item 14915537105.

rs1491553710 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 22:36821518 (GRCh38)
22:37217562 (GRCh37)
Canonical SPDI:: NC_000022.11:36821517:CG:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.36821518_36821519del, NC_000022.10:g.37217562_37217563del, NT_187631.1:g.42305_42306del

Select item 14915437346.

rs1491543734 has merged into rs35896477 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:36792821 (GRCh38)
22:37188865 (GRCh37)
Canonical SPDI:: NC_000022.11:36792807:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:36792807:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:36792807:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:36792807:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:36792807:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:36792807:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:36792807:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:36792807:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:36792807:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:36792807:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0999/385 (ALSPAC)
T=0.345/1728 (1000Genomes)
HGVS:: NC_000022.11:g.36792821_36792825del, NC_000022.11:g.36792823_36792825del, NC_000022.11:g.36792824_36792825del, NC_000022.11:g.36792825del, NC_000022.11:g.36792825dup, NC_000022.11:g.36792824_36792825dup, NC_000022.11:g.36792823_36792825dup, NC_000022.11:g.36792822_36792825dup, NC_000022.11:g.36792821_36792825dup, NC_000022.11:g.36792818_36792825dup, NC_000022.10:g.37188865_37188869del, NC_000022.10:g.37188867_37188869del, NC_000022.10:g.37188868_37188869del, NC_000022.10:g.37188869del, NC_000022.10:g.37188869dup, NC_000022.10:g.37188868_37188869dup, NC_000022.10:g.37188867_37188869dup, NC_000022.10:g.37188866_37188869dup, NC_000022.10:g.37188865_37188869dup, NC_000022.10:g.37188862_37188869dup, NT_187631.1:g.13608_13612del, NT_187631.1:g.13610_13612del, NT_187631.1:g.13611_13612del, NT_187631.1:g.13612del, NT_187631.1:g.13612dup, NT_187631.1:g.13611_13612dup, NT_187631.1:g.13610_13612dup, NT_187631.1:g.13609_13612dup, NT_187631.1:g.13608_13612dup, NT_187631.1:g.13605_13612dup

Select item 14915308077.

rs1491530807 has merged into rs59286661 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG [Show Flanks]
Chromosome:: 22:36821545 (GRCh38)
22:37217589 (GRCh37)
Canonical SPDI:: NC_000022.11:36821537:GGGGGGGGGG:GGGGGGG,NC_000022.11:36821537:GGGGGGGGGG:GGGGGGGG,NC_000022.11:36821537:GGGGGGGGGG:GGGGGGGGG,NC_000022.11:36821537:GGGGGGGGGG:GGGGGGGGGGG,NC_000022.11:36821537:GGGGGGGGGG:GGGGGGGGGGGG,NC_000022.11:36821537:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000022.11:36821537:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000022.11:36821537:GGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000022.11:36821537:GGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000022.11:36821537:GGGGGGGGGG:GGGGGGGGGGGGGGGGG
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
HGVS:: NC_000022.11:g.36821545_36821547del, NC_000022.11:g.36821546_36821547del, NC_000022.11:g.36821547del, NC_000022.11:g.36821547dup, NC_000022.11:g.36821546_36821547dup, NC_000022.11:g.36821545_36821547dup, NC_000022.11:g.36821544_36821547dup, NC_000022.11:g.36821543_36821547dup, NC_000022.11:g.36821542_36821547dup, NC_000022.11:g.36821541_36821547dup, NC_000022.10:g.37217589_37217591del, NC_000022.10:g.37217590_37217591del, NC_000022.10:g.37217591del, NC_000022.10:g.37217591dup, NC_000022.10:g.37217590_37217591dup, NC_000022.10:g.37217589_37217591dup, NC_000022.10:g.37217588_37217591dup, NC_000022.10:g.37217587_37217591dup, NC_000022.10:g.37217586_37217591dup, NC_000022.10:g.37217585_37217591dup, NT_187631.1:g.42332_42334del, NT_187631.1:g.42333_42334del, NT_187631.1:g.42334del, NT_187631.1:g.42334dup, NT_187631.1:g.42333_42334dup, NT_187631.1:g.42332_42334dup, NT_187631.1:g.42331_42334dup, NT_187631.1:g.42330_42334dup, NT_187631.1:g.42329_42334dup, NT_187631.1:g.42328_42334dup

Select item 14915292908.

rs1491529290 has merged into rs138080167 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA [Show Flanks]
Chromosome:: 22:36844696 (GRCh38)
22:37240739 (GRCh37)
Canonical SPDI:: NC_000022.11:36844684:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000022.11:36844684:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000022.11:36844684:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000022.11:36844684:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000022.11:36844684:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000022.11:36844684:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.000155/41 (TOPMED)
AG=0.051118/256 (1000Genomes)
HGVS:: NC_000022.11:g.36844686GA[5], NC_000022.11:g.36844686GA[6], NC_000022.11:g.36844686GA[7], NC_000022.11:g.36844686GA[8], NC_000022.11:g.36844686GA[10], NC_000022.11:g.36844686GA[11], NC_000022.10:g.37240729GA[5], NC_000022.10:g.37240729GA[6], NC_000022.10:g.37240729GA[7], NC_000022.10:g.37240729GA[8], NC_000022.10:g.37240729GA[10], NC_000022.10:g.37240729GA[11], NT_187631.1:g.65473GA[5], NT_187631.1:g.65473GA[6], NT_187631.1:g.65473GA[7], NT_187631.1:g.65473GA[8], NT_187631.1:g.65473GA[10], NT_187631.1:g.65473GA[11]

Select item 14914750949.

rs1491475094 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTCTTCT [Show Flanks]
Chromosome:: 22:36831765 (GRCh38)
22:37227809 (GRCh37)
Canonical SPDI:: NC_000022.11:36831765:TCTTCTTCT:TCTTCTTCTCTTCTTCT
Validated:: by frequency,by alfa
MAF:: TCTTCTTCTCTTCTTCT=0./0 (ALFA)
HGVS:: NC_000022.11:g.36831767_36831774dup, NC_000022.10:g.37227810_37227817dup, NT_187631.1:g.52554_52561dup

Select item 149146932610.

rs1491469326 has merged into rs60843863 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:36802618 (GRCh38)
22:37198662 (GRCh37)
Canonical SPDI:: NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:36802603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PVALB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.36802618_36802626del, NC_000022.11:g.36802619_36802626del, NC_000022.11:g.36802620_36802626del, NC_000022.11:g.36802621_36802626del, NC_000022.11:g.36802622_36802626del, NC_000022.11:g.36802624_36802626del, NC_000022.11:g.36802625_36802626del, NC_000022.11:g.36802626del, NC_000022.11:g.36802626dup, NC_000022.11:g.36802625_36802626dup, NC_000022.11:g.36802624_36802626dup, NC_000022.11:g.36802623_36802626dup, NC_000022.11:g.36802622_36802626dup, NC_000022.11:g.36802621_36802626dup, NC_000022.11:g.36802620_36802626dup, NC_000022.10:g.37198662_37198670del, NC_000022.10:g.37198663_37198670del, NC_000022.10:g.37198664_37198670del, NC_000022.10:g.37198665_37198670del, NC_000022.10:g.37198666_37198670del, NC_000022.10:g.37198668_37198670del, NC_000022.10:g.37198669_37198670del, NC_000022.10:g.37198670del, NC_000022.10:g.37198670dup, NC_000022.10:g.37198669_37198670dup, NC_000022.10:g.37198668_37198670dup, NC_000022.10:g.37198667_37198670dup, NC_000022.10:g.37198666_37198670dup, NC_000022.10:g.37198665_37198670dup, NC_000022.10:g.37198664_37198670dup, NT_187631.1:g.23405_23413del, NT_187631.1:g.23406_23413del, NT_187631.1:g.23407_23413del, NT_187631.1:g.23408_23413del, NT_187631.1:g.23409_23413del, NT_187631.1:g.23411_23413del, NT_187631.1:g.23412_23413del, NT_187631.1:g.23413del, NT_187631.1:g.23413dup, NT_187631.1:g.23412_23413dup, NT_187631.1:g.23411_23413dup, NT_187631.1:g.23410_23413dup, NT_187631.1:g.23409_23413dup, NT_187631.1:g.23408_23413dup, NT_187631.1:g.23407_23413dup

Select item 149146930111.

rs1491469301 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:36792807 (GRCh38)
22:37188851 (GRCh37)
Canonical SPDI:: NC_000022.11:36792806:AT:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000022.11:g.36792807_36792808del, NC_000022.10:g.37188851_37188852del, NT_187631.1:g.13594_13595del

Select item 149145233512.

rs1491452335 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:36836925 (GRCh38)
22:37232969 (GRCh37)
Canonical SPDI:: NC_000022.11:36836925:GGGGGG:GGGGGGG
Validated:: by frequency,by alfa
MAF:: GGGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.36836931dup, NC_000022.10:g.37232974dup, NT_187631.1:g.57718dup

Select item 149144063713.

rs1491440637 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:36821536 (GRCh38)
22:37217580 (GRCh37)
Canonical SPDI:: NC_000022.11:36821535:TT:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.36821536_36821537del, NC_000022.10:g.37217580_37217581del, NT_187631.1:g.42323_42324del

Select item 149137443214.

rs1491374432 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 22:36797221 (GRCh38)
22:37193265 (GRCh37)
Canonical SPDI:: NC_000022.11:36797220:GT:
Validated:: by frequency,by alfa
MAF:: -=0.000356/5 (ALFA)
-=0.000116/15 (GnomAD)
HGVS:: NC_000022.11:g.36797221_36797222del, NC_000022.10:g.37193265_37193266del, NT_187631.1:g.18008_18009del

Select item 149136627015.

rs1491366270 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 22:36816043 (GRCh38)
22:37212088 (GRCh37)
Canonical SPDI:: NC_000022.11:36816043:T:TGT,NC_000022.11:36816043:T:TGTGT,NC_000022.11:36816043:T:TGTGTGT,NC_000022.11:36816043:T:TGTGTGTGT,NC_000022.11:36816043:T:TGTGTGTGTGT,NC_000022.11:36816043:T:TGTGTGTGTGTGT
Gene:: PVALB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000022.11:g.36816044_36816045insGT, NC_000022.11:g.36816044_36816045insGTGT, NC_000022.11:g.36816045GT[3], NC_000022.11:g.36816045GT[4], NC_000022.11:g.36816045GT[5], NC_000022.11:g.36816045GT[6], NC_000022.10:g.37212088_37212089insGT, NC_000022.10:g.37212088_37212089insGTGT, NC_000022.10:g.37212089GT[3], NC_000022.10:g.37212089GT[4], NC_000022.10:g.37212089GT[5], NC_000022.10:g.37212089GT[6], NT_187631.1:g.36831_36832insGT, NT_187631.1:g.36831_36832insGTGT, NT_187631.1:g.36832GT[3], NT_187631.1:g.36832GT[4], NT_187631.1:g.36832GT[5], NT_187631.1:g.36832GT[6]

Select item 149124285216.

rs1491242852 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGG,TGG [Show Flanks]
Chromosome:: 22:36821538 (GRCh38)
22:37217583 (GRCh37)
Canonical SPDI:: NC_000022.11:36821538:GG:GGAGG,NC_000022.11:36821538:GG:GGTGG
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGG=0.00017/2 (ALFA)
GGT=0.00004/1 (TOMMO)
GGA=0.00006/4 (GnomAD)
HGVS:: NC_000022.11:g.36821540_36821541insAGG, NC_000022.11:g.36821540_36821541insTGG, NC_000022.10:g.37217584_37217585insAGG, NC_000022.10:g.37217584_37217585insTGG, NT_187631.1:g.42327_42328insAGG, NT_187631.1:g.42327_42328insTGG

Select item 149122952817.

rs1491229528 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 22:36794386 (GRCh38)
22:37190430 (GRCh37)
Canonical SPDI:: NC_000022.11:36794385:GC:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000022.11:g.36794386_36794387del, NC_000022.10:g.37190430_37190431del, NT_187631.1:g.15173_15174del

Select item 149122245018.

rs1491222450 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC,CTTCTTCTTCTTCC,CTTCTTCTTCTTCCTCC [Show Flanks]
Chromosome:: 22:36831774 (GRCh38)
22:37227818 (GRCh37)
Canonical SPDI:: NC_000022.11:36831774::CC,NC_000022.11:36831774::CTTCTTCTTCTTCC,NC_000022.11:36831774::CTTCTTCTTCTTCCTCC
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCTTCTTCTTCC=0./0 (ALFA)
CC=0.00015/2 (TOMMO)
HGVS:: NC_000022.11:g.36831774_36831775insCC, NC_000022.11:g.36831774_36831775insCTTCTTCTTCTTCC, NC_000022.11:g.36831774_36831775insCTTCTTCTTCTTCCTCC, NC_000022.10:g.37227817_37227818insCC, NC_000022.10:g.37227817_37227818insCTTCTTCTTCTTCC, NC_000022.10:g.37227817_37227818insCTTCTTCTTCTTCCTCC, NT_187631.1:g.52561_52562insCC, NT_187631.1:g.52561_52562insCTTCTTCTTCTTCC, NT_187631.1:g.52561_52562insCTTCTTCTTCTTCCTCC

Select item 149122077419.

rs1491220774 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 22:36811425 (GRCh38)
22:37207469 (GRCh37)
Canonical SPDI:: NC_000022.11:36811424:GT:
Gene:: PVALB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.36811425_36811426del, NC_000022.10:g.37207469_37207470del, NT_187631.1:g.32212_32213del

Select item 149118680820.

rs1491186808 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGTGTGTGTGGTGTATGTATGTGTATGTGTGTGTGTG [Show Flanks]
Chromosome:: 22:36838308 (GRCh38)
22:37234352 (GRCh37)
Canonical SPDI:: NC_000022.11:36838308:GTGTGTGTGTGTGGTGTATGTATGTGTATGTGTGTGTGTG:GTGTGTGTGTGTGGTGTATGTATGTGTATGTGTGTGTGTGGTGTGTGTGTGTGGTGTATGTATGTGTATGTGTGTGTGTG
Validated:: by frequency
MAF:: GTGTGTGTGTGTGGTGTATGTATGTGTATGTGTGTGTGTG=0.000015/2 (GnomAD)
HGVS:: NC_000022.11:g.36838309_36838348dup, NC_000022.10:g.37234352_37234391dup, NT_187631.1:g.59096_59135dup

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