SNP Links for Gene (Select 9487) - SNP

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Select item 14915651181.

rs1491565118 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:16266906 (GRCh38)
17:16170220 (GRCh37)
Canonical SPDI:: NC_000017.11:16266905:TG:
Gene:: PIGL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00034/4 (ALFA)
-=0.00183/79 (GnomAD)
HGVS:: NC_000017.11:g.16266906_16266907del, NC_000017.10:g.16170220_16170221del, NG_032651.1:g.54712_54713del

Select item 14915445152.

rs1491544515 has merged into rs869065594 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 17:16312929 (GRCh38)
17:16216243 (GRCh37)
Canonical SPDI:: NC_000017.11:16312928:GGGGGGGGG:GGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000017.11:16312928:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: PIGL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000017.11:g.16312937del, NC_000017.11:g.16312937dup, NC_000017.11:g.16312936_16312937dup, NC_000017.11:g.16312935_16312937dup, NC_000017.11:g.16312934_16312937dup, NC_000017.11:g.16312933_16312937dup, NC_000017.11:g.16312932_16312937dup, NC_000017.11:g.16312931_16312937dup, NC_000017.11:g.16312930_16312937dup, NC_000017.11:g.16312929_16312937dup, NC_000017.11:g.16312937_16312938insGGGGGGGGGG, NC_000017.11:g.16312937_16312938insGGGGGGGGGGG, NC_000017.11:g.16312937_16312938insGGGGGGGGGGGG, NC_000017.11:g.16312937_16312938insGGGGGGGGGGGGG, NC_000017.11:g.16312937_16312938insGGGGGGGGGGGGGG, NC_000017.11:g.16312937_16312938insGGGGGGGGGGGGGGG, NC_000017.11:g.16312937_16312938insGGGGGGGGGGGGGGGG, NC_000017.11:g.16312937_16312938insGGGGGGGGGGGGGGGGGGG, NC_000017.11:g.16312937_16312938insGGGGGGGGGGGGGGGGGGGG, NC_000017.11:g.16312937_16312938insGGGGGGGGGGGGGGGGGGGGGG, NC_000017.11:g.16312937_16312938insGGGGGGGGGGGGGGGGGGGGGGGG, NC_000017.11:g.16312937_16312938insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000017.10:g.16216251del, NC_000017.10:g.16216251dup, NC_000017.10:g.16216250_16216251dup, NC_000017.10:g.16216249_16216251dup, NC_000017.10:g.16216248_16216251dup, NC_000017.10:g.16216247_16216251dup, NC_000017.10:g.16216246_16216251dup, NC_000017.10:g.16216245_16216251dup, NC_000017.10:g.16216244_16216251dup, NC_000017.10:g.16216243_16216251dup, NC_000017.10:g.16216251_16216252insGGGGGGGGGG, NC_000017.10:g.16216251_16216252insGGGGGGGGGGG, NC_000017.10:g.16216251_16216252insGGGGGGGGGGGG, NC_000017.10:g.16216251_16216252insGGGGGGGGGGGGG, NC_000017.10:g.16216251_16216252insGGGGGGGGGGGGGG, NC_000017.10:g.16216251_16216252insGGGGGGGGGGGGGGG, NC_000017.10:g.16216251_16216252insGGGGGGGGGGGGGGGG, NC_000017.10:g.16216251_16216252insGGGGGGGGGGGGGGGGGGG, NC_000017.10:g.16216251_16216252insGGGGGGGGGGGGGGGGGGGG, NC_000017.10:g.16216251_16216252insGGGGGGGGGGGGGGGGGGGGGG, NC_000017.10:g.16216251_16216252insGGGGGGGGGGGGGGGGGGGGGGGG, NC_000017.10:g.16216251_16216252insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_032651.1:g.100743del, NG_032651.1:g.100743dup, NG_032651.1:g.100742_100743dup, NG_032651.1:g.100741_100743dup, NG_032651.1:g.100740_100743dup, NG_032651.1:g.100739_100743dup, NG_032651.1:g.100738_100743dup, NG_032651.1:g.100737_100743dup, NG_032651.1:g.100736_100743dup, NG_032651.1:g.100735_100743dup, NG_032651.1:g.100743_100744insGGGGGGGGGG, NG_032651.1:g.100743_100744insGGGGGGGGGGG, NG_032651.1:g.100743_100744insGGGGGGGGGGGG, NG_032651.1:g.100743_100744insGGGGGGGGGGGGG, NG_032651.1:g.100743_100744insGGGGGGGGGGGGGG, NG_032651.1:g.100743_100744insGGGGGGGGGGGGGGG, NG_032651.1:g.100743_100744insGGGGGGGGGGGGGGGG, NG_032651.1:g.100743_100744insGGGGGGGGGGGGGGGGGGG, NG_032651.1:g.100743_100744insGGGGGGGGGGGGGGGGGGGG, NG_032651.1:g.100743_100744insGGGGGGGGGGGGGGGGGGGGGG, NG_032651.1:g.100743_100744insGGGGGGGGGGGGGGGGGGGGGGGG, NG_032651.1:g.100743_100744insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Select item 14915235553.

rs1491523555 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:16301570 (GRCh38)
17:16204884 (GRCh37)
Canonical SPDI:: NC_000017.11:16301569:AT:
Gene:: PIGL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00005/3 (GnomAD)
HGVS:: NC_000017.11:g.16301570_16301571del, NC_000017.10:g.16204884_16204885del, NG_032651.1:g.89376_89377del

Select item 14915054234.

rs1491505423 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA [Show Flanks]
Chromosome:: 17:16245821 (GRCh38)
17:16149136 (GRCh37)
Canonical SPDI:: NC_000017.11:16245821::A,NC_000017.11:16245821::ATA
Gene:: PIGL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
ATA=0.00169/3 (Korea1K)
HGVS:: NC_000017.11:g.16245821_16245822insA, NC_000017.11:g.16245821_16245822insATA, NC_000017.10:g.16149135_16149136insA, NC_000017.10:g.16149135_16149136insATA, NG_032651.1:g.33627_33628insA, NG_032651.1:g.33627_33628insATA

Select item 14915016605.

rs1491501660 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:16283988 (GRCh38)
17:16187302 (GRCh37)
Canonical SPDI:: NC_000017.11:16283986:TGT:T
Gene:: PIGL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000498/7 (ALFA)
-=0.000312/2 (1000Genomes)
-=0.001239/21 (TOMMO)
-=0.002809/316 (GnomAD)
HGVS:: NC_000017.11:g.16283988_16283989del, NC_000017.10:g.16187302_16187303del, NG_032651.1:g.71794_71795del

Select item 14914901866.

rs1491490186 [Homo sapiens]

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

Select item 14914894697.

rs1491489469 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:16229481 (GRCh38)
17:16132795 (GRCh37)
Canonical SPDI:: NC_000017.11:16229480:CT:
Gene:: PIGL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.16229481_16229482del, NC_000017.10:g.16132795_16132796del, NG_032651.1:g.17287_17288del

Select item 14914789408.

rs1491478940 [Homo sapiens]

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

Select item 14914683089.

rs1491468308 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:16246696 (GRCh38)
17:16150010 (GRCh37)
Canonical SPDI:: NC_000017.11:16246695:TG:
Gene:: PIGL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.16246696_16246697del, NC_000017.10:g.16150010_16150011del, NG_032651.1:g.34502_34503del

Select item 149145496010.

rs1491454960 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATTTTTTTTTT,AATTTTTTTTTTT,ATTTTTTTTTT,ATTTTTTTTTTT,ATTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:16339996 (GRCh38)
17:16243311 (GRCh37)
Canonical SPDI:: NC_000017.11:16339996:TTTTTTTTT:TTTTTTTTTAATTTTTTTTTT,NC_000017.11:16339996:TTTTTTTTT:TTTTTTTTTAATTTTTTTTTTT,NC_000017.11:16339996:TTTTTTTTT:TTTTTTTTTATTTTTTTTTT,NC_000017.11:16339996:TTTTTTTTT:TTTTTTTTTATTTTTTTTTTT,NC_000017.11:16339996:TTTTTTTTT:TTTTTTTTTATTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTAATTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTATT=0.000007/1 (GnomAD)
TTTTTTTTTAAT=0.370005/1426 (ALSPAC)
TTTTTTTAATTT=0.377292/1399 (TWINSUK)
HGVS:: NC_000017.11:g.16339997_16340005T[9]AATTTTTTTTTT[1], NC_000017.11:g.16339997_16340005T[9]AATTTTTTTTTTT[1], NC_000017.11:g.16339997_16340005T[9]ATTTTTTTTTT[1], NC_000017.11:g.16339997_16340005T[9]ATTTTTTTTTTT[1], NC_000017.11:g.16339997_16340005T[9]ATTTTTTTTTTTT[1], NC_000017.10:g.16243311_16243319T[9]AATTTTTTTTTT[1], NC_000017.10:g.16243311_16243319T[9]AATTTTTTTTTTT[1], NC_000017.10:g.16243311_16243319T[9]ATTTTTTTTTT[1], NC_000017.10:g.16243311_16243319T[9]ATTTTTTTTTTT[1], NC_000017.10:g.16243311_16243319T[9]ATTTTTTTTTTTT[1]

Select item 149145114911.

rs1491451149 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:16347984 (GRCh38)
17:16251299 (GRCh37)
Canonical SPDI:: NC_000017.11:16347984:A:AA
Gene:: CENPV (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000017.11:g.16347985dup, NC_000017.10:g.16251299dup

Select item 149141631412.

rs1491416314 has merged into rs3034004 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:16301585 (GRCh38)
17:16204899 (GRCh37)
Canonical SPDI:: NC_000017.11:16301570:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:16301570:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:16301570:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:16301570:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:16301570:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:16301570:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:16301570:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16301570:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PIGL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTT=0.0039/27 (ALFA)
-=0.3478/1742 (1000Genomes)
HGVS:: NC_000017.11:g.16301585_16301589del, NC_000017.11:g.16301586_16301589del, NC_000017.11:g.16301587_16301589del, NC_000017.11:g.16301588_16301589del, NC_000017.11:g.16301589del, NC_000017.11:g.16301589dup, NC_000017.11:g.16301588_16301589dup, NC_000017.11:g.16301583_16301589dup, NC_000017.10:g.16204899_16204903del, NC_000017.10:g.16204900_16204903del, NC_000017.10:g.16204901_16204903del, NC_000017.10:g.16204902_16204903del, NC_000017.10:g.16204903del, NC_000017.10:g.16204903dup, NC_000017.10:g.16204902_16204903dup, NC_000017.10:g.16204897_16204903dup, NG_032651.1:g.89391_89395del, NG_032651.1:g.89392_89395del, NG_032651.1:g.89393_89395del, NG_032651.1:g.89394_89395del, NG_032651.1:g.89395del, NG_032651.1:g.89395dup, NG_032651.1:g.89394_89395dup, NG_032651.1:g.89389_89395dup

Select item 149141594513.

rs1491415945 has merged into rs71353784 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:16229490 (GRCh38)
17:16132804 (GRCh37)
Canonical SPDI:: NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:16229481:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PIGL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.3548/1777 (1000Genomes)
HGVS:: NC_000017.11:g.16229490_16229501del, NC_000017.11:g.16229491_16229501del, NC_000017.11:g.16229492_16229501del, NC_000017.11:g.16229494_16229501del, NC_000017.11:g.16229495_16229501del, NC_000017.11:g.16229496_16229501del, NC_000017.11:g.16229497_16229501del, NC_000017.11:g.16229498_16229501del, NC_000017.11:g.16229499_16229501del, NC_000017.11:g.16229500_16229501del, NC_000017.11:g.16229501del, NC_000017.11:g.16229501dup, NC_000017.11:g.16229500_16229501dup, NC_000017.11:g.16229499_16229501dup, NC_000017.11:g.16229498_16229501dup, NC_000017.11:g.16229497_16229501dup, NC_000017.11:g.16229495_16229501dup, NC_000017.11:g.16229494_16229501dup, NC_000017.11:g.16229493_16229501dup, NC_000017.11:g.16229489_16229501dup, NC_000017.11:g.16229487_16229501dup, NC_000017.11:g.16229501_16229502insTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.16132804_16132815del, NC_000017.10:g.16132805_16132815del, NC_000017.10:g.16132806_16132815del, NC_000017.10:g.16132808_16132815del, NC_000017.10:g.16132809_16132815del, NC_000017.10:g.16132810_16132815del, NC_000017.10:g.16132811_16132815del, NC_000017.10:g.16132812_16132815del, NC_000017.10:g.16132813_16132815del, NC_000017.10:g.16132814_16132815del, NC_000017.10:g.16132815del, NC_000017.10:g.16132815dup, NC_000017.10:g.16132814_16132815dup, NC_000017.10:g.16132813_16132815dup, NC_000017.10:g.16132812_16132815dup, NC_000017.10:g.16132811_16132815dup, NC_000017.10:g.16132809_16132815dup, NC_000017.10:g.16132808_16132815dup, NC_000017.10:g.16132807_16132815dup, NC_000017.10:g.16132803_16132815dup, NC_000017.10:g.16132801_16132815dup, NC_000017.10:g.16132815_16132816insTTTTTTTTTTTTTTTTTTTTTTT, NG_032651.1:g.17296_17307del, NG_032651.1:g.17297_17307del, NG_032651.1:g.17298_17307del, NG_032651.1:g.17300_17307del, NG_032651.1:g.17301_17307del, NG_032651.1:g.17302_17307del, NG_032651.1:g.17303_17307del, NG_032651.1:g.17304_17307del, NG_032651.1:g.17305_17307del, NG_032651.1:g.17306_17307del, NG_032651.1:g.17307del, NG_032651.1:g.17307dup, NG_032651.1:g.17306_17307dup, NG_032651.1:g.17305_17307dup, NG_032651.1:g.17304_17307dup, NG_032651.1:g.17303_17307dup, NG_032651.1:g.17301_17307dup, NG_032651.1:g.17300_17307dup, NG_032651.1:g.17299_17307dup, NG_032651.1:g.17295_17307dup, NG_032651.1:g.17293_17307dup, NG_032651.1:g.17307_17308insTTTTTTTTTTTTTTTTTTTTTTT

Select item 149139756414.

rs1491397564 has merged into rs57699089 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAACAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:16216795 (GRCh38)
17:16120109 (GRCh37)
Canonical SPDI:: NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:16216786:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAA
Gene:: PIGL (Varview), NCOR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.16216795_16216801del, NC_000017.11:g.16216797_16216801del, NC_000017.11:g.16216798_16216801del, NC_000017.11:g.16216799_16216801del, NC_000017.11:g.16216800_16216801del, NC_000017.11:g.16216801del, NC_000017.11:g.16216801dup, NC_000017.11:g.16216800_16216801dup, NC_000017.11:g.16216799_16216801dup, NC_000017.11:g.16216798_16216801dup, NC_000017.11:g.16216797_16216801dup, NC_000017.11:g.16216796_16216801dup, NC_000017.11:g.16216795_16216801dup, NC_000017.11:g.16216794_16216801dup, NC_000017.11:g.16216793_16216801dup, NC_000017.11:g.16216792_16216801dup, NC_000017.11:g.16216791_16216801dup, NC_000017.11:g.16216790_16216801dup, NC_000017.11:g.16216789_16216801dup, NC_000017.11:g.16216788_16216801dup, NC_000017.11:g.16216787_16216801dup, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216801_16216802insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.16216787_16216801A[20]CAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.16120109_16120115del, NC_000017.10:g.16120111_16120115del, NC_000017.10:g.16120112_16120115del, NC_000017.10:g.16120113_16120115del, NC_000017.10:g.16120114_16120115del, NC_000017.10:g.16120115del, NC_000017.10:g.16120115dup, NC_000017.10:g.16120114_16120115dup, NC_000017.10:g.16120113_16120115dup, NC_000017.10:g.16120112_16120115dup, NC_000017.10:g.16120111_16120115dup, NC_000017.10:g.16120110_16120115dup, NC_000017.10:g.16120109_16120115dup, NC_000017.10:g.16120108_16120115dup, NC_000017.10:g.16120107_16120115dup, NC_000017.10:g.16120106_16120115dup, NC_000017.10:g.16120105_16120115dup, NC_000017.10:g.16120104_16120115dup, NC_000017.10:g.16120103_16120115dup, NC_000017.10:g.16120102_16120115dup, NC_000017.10:g.16120101_16120115dup, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120115_16120116insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.16120101_16120115A[20]CAAAAAAAAAAAAAAAAA[1], NG_047111.1:g.4954_4960del, NG_047111.1:g.4956_4960del, NG_047111.1:g.4957_4960del, NG_047111.1:g.4958_4960del, NG_047111.1:g.4959_4960del, NG_047111.1:g.4960del, NG_047111.1:g.4960dup, NG_047111.1:g.4959_4960dup, NG_047111.1:g.4958_4960dup, NG_047111.1:g.4957_4960dup, NG_047111.1:g.4956_4960dup, NG_047111.1:g.4955_4960dup, NG_047111.1:g.4954_4960dup, NG_047111.1:g.4953_4960dup, NG_047111.1:g.4952_4960dup, NG_047111.1:g.4951_4960dup, NG_047111.1:g.4950_4960dup, NG_047111.1:g.4949_4960dup, NG_047111.1:g.4948_4960dup, NG_047111.1:g.4947_4960dup, NG_047111.1:g.4946_4960dup, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4960_4961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047111.1:g.4946_4960T[17]GTTTTTTTTTTTTTTTTTTTT[1], NG_032651.1:g.4601_4607del, NG_032651.1:g.4603_4607del, NG_032651.1:g.4604_4607del, NG_032651.1:g.4605_4607del, NG_032651.1:g.4606_4607del, NG_032651.1:g.4607del, NG_032651.1:g.4607dup, NG_032651.1:g.4606_4607dup, NG_032651.1:g.4605_4607dup, NG_032651.1:g.4604_4607dup, NG_032651.1:g.4603_4607dup, NG_032651.1:g.4602_4607dup, NG_032651.1:g.4601_4607dup, NG_032651.1:g.4600_4607dup, NG_032651.1:g.4599_4607dup, NG_032651.1:g.4598_4607dup, NG_032651.1:g.4597_4607dup, NG_032651.1:g.4596_4607dup, NG_032651.1:g.4595_4607dup, NG_032651.1:g.4594_4607dup, NG_032651.1:g.4593_4607dup, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4607_4608insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032651.1:g.4593_4607A[20]CAAAAAAAAAAAAAAAAA[1]

Select item 149137793115.

rs1491377931 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:16218697 (GRCh38)
17:16122011 (GRCh37)
Canonical SPDI:: NC_000017.11:16218695:TCT:T
Gene:: PIGL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.16218697_16218698del, NC_000017.10:g.16122011_16122012del, NG_047111.1:g.3050_3051del, NG_032651.1:g.6503_6504del

Select item 149136092116.

rs1491360921 has merged into rs60411653 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 17:16263103 (GRCh38)
17:16166417 (GRCh37)
Canonical SPDI:: NC_000017.11:16263093:GGGGGGGGGGG:GGGGGGGGG,NC_000017.11:16263093:GGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:16263093:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:16263093:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:16263093:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000017.11:16263093:GGGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: PIGL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGGGG=0./0 (ALFA)
-=0.0106/41 (ALSPAC)
G=0.025/1 (GENOME_DK)
G=0.1108/555 (1000Genomes)
HGVS:: NC_000017.11:g.16263103_16263104del, NC_000017.11:g.16263104del, NC_000017.11:g.16263104dup, NC_000017.11:g.16263103_16263104dup, NC_000017.11:g.16263102_16263104dup, NC_000017.11:g.16263101_16263104dup, NC_000017.10:g.16166417_16166418del, NC_000017.10:g.16166418del, NC_000017.10:g.16166418dup, NC_000017.10:g.16166417_16166418dup, NC_000017.10:g.16166416_16166418dup, NC_000017.10:g.16166415_16166418dup, NG_032651.1:g.50909_50910del, NG_032651.1:g.50910del, NG_032651.1:g.50910dup, NG_032651.1:g.50909_50910dup, NG_032651.1:g.50908_50910dup, NG_032651.1:g.50907_50910dup

Select item 149135341717.

rs1491353417 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:16306542 (GRCh38)
17:16209857 (GRCh37)
Canonical SPDI:: NC_000017.11:16306542:C:CC
Gene:: PIGL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000123/17 (GnomAD)
HGVS:: NC_000017.11:g.16306543dup, NC_000017.10:g.16209857dup, NG_032651.1:g.94349dup

Select item 149135252018.

rs1491352520 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:16337805 (GRCh38)
17:16241119 (GRCh37)
Canonical SPDI:: NC_000017.11:16337804:CA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00101/12 (ALFA)
-=0.00148/8 (GnomAD)
-=0.00525/78 (TOMMO)
HGVS:: NC_000017.11:g.16337805_16337806del, NC_000017.10:g.16241119_16241120del

Select item 149134758819.

rs1491347588 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:16319223 (GRCh38)
17:16222537 (GRCh37)
Canonical SPDI:: NC_000017.11:16319222:CA:
Gene:: PIGL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000017.11:g.16319223_16319224del, NC_000017.10:g.16222537_16222538del, NG_032651.1:g.107029_107030del

Select item 149134637120.

rs1491346371 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA [Show Flanks]
Chromosome:: 17:16237804 (GRCh38)
17:16141119 (GRCh37)
Canonical SPDI:: NC_000017.11:16237804::A,NC_000017.11:16237804::AA,NC_000017.11:16237804::AAA
Gene:: PIGL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000017.11:g.16237804_16237805insA, NC_000017.11:g.16237804_16237805insAA, NC_000017.11:g.16237804_16237805insAAA, NC_000017.10:g.16141118_16141119insA, NC_000017.10:g.16141118_16141119insAA, NC_000017.10:g.16141118_16141119insAAA, NG_032651.1:g.25610_25611insA, NG_032651.1:g.25610_25611insAA, NG_032651.1:g.25610_25611insAAA

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