SNP Links for Gene (Select 79400) - SNP

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Select item 14915430801.

rs1491543080 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 15:68950213 (GRCh38)
15:69242553 (GRCh37)
Canonical SPDI:: NC_000015.10:68950213:T:TCT
Gene:: NOX5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000015.10:g.68950214_68950215insCT, NC_000015.9:g.69242553_69242554insCT, NG_030464.1:g.24715_24716insCT

Select item 14915113532.

rs1491511353 has merged into rs35400217 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 15:68949506 (GRCh38)
15:69241845 (GRCh37)
Canonical SPDI:: NC_000015.10:68949497:AAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:68949497:AAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:68949497:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:68949497:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:68949497:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:68949497:AAAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: NOX5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.3842/1924 (1000Genomes)
HGVS:: NC_000015.10:g.68949506_68949510del, NC_000015.10:g.68949507_68949510del, NC_000015.10:g.68949508_68949510del, NC_000015.10:g.68949509_68949510del, NC_000015.10:g.68949510del, NC_000015.10:g.68949510dup, NC_000015.9:g.69241845_69241849del, NC_000015.9:g.69241846_69241849del, NC_000015.9:g.69241847_69241849del, NC_000015.9:g.69241848_69241849del, NC_000015.9:g.69241849del, NC_000015.9:g.69241849dup, NG_030464.1:g.24007_24011del, NG_030464.1:g.24008_24011del, NG_030464.1:g.24009_24011del, NG_030464.1:g.24010_24011del, NG_030464.1:g.24011del, NG_030464.1:g.24011dup

Select item 14914715143.

rs1491471514 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:69045544 (GRCh38)
15:69337884 (GRCh37)
Canonical SPDI:: NC_000015.10:69045542:TCT:T
Gene:: NOX5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.69045544_69045545del, NC_000015.9:g.69337884_69337885del, NG_030464.1:g.120046_120047del

Select item 14914430534.

rs1491443053 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:68970469 (GRCh38)
15:69262809 (GRCh37)
Canonical SPDI:: NC_000015.10:68970469::A
Gene:: NOX5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.68970469_68970470insA, NC_000015.9:g.69262808_69262809insA, NG_030464.1:g.44970_44971insA

Select item 14913666945.

Error occurred: cannot get document summary

Select item 14912510166.

rs1491251016 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTTTCTTTCTTTCTTTCTT [Show Flanks]
Chromosome:: 15:69045543 (GRCh38)
15:69337884 (GRCh37)
Canonical SPDI:: NC_000015.10:69045543:CTTTCTTTCTTTCTTTCTT:CTTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTT
Gene:: NOX5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTT=0./0 (ALFA)
CTTTCTTTCTTTCTTTCTTC=0.000034/4 (GnomAD)
HGVS:: NC_000015.10:g.69045544_69045562CTTT[4]CTTCCTTTCTTTCTTTCTTTCTT[1], NC_000015.9:g.69337884_69337902CTTT[4]CTTCCTTTCTTTCTTTCTTTCTT[1], NG_030464.1:g.120046_120064CTTT[4]CTTCCTTTCTTTCTTTCTTTCTT[1]

Select item 14912271927.

rs1491227192 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:68944311 (GRCh38)
15:69236650 (GRCh37)
Canonical SPDI:: NC_000015.10:68944310:CT:
Gene:: NOX5 (Varview), SPESP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.68944311_68944312del, NC_000015.9:g.69236650_69236651del, NG_030464.1:g.18812_18813del

Select item 14912078398.

rs1491207839 has merged into rs75390989 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 15:68944325 (GRCh38)
15:69236664 (GRCh37)
Canonical SPDI:: NC_000015.10:68944311:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:68944311:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:68944311:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:68944311:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:68944311:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: NOX5 (Varview), SPESP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.01839/11 (NorthernSweden)
-=0.18091/906 (1000Genomes)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000015.10:g.68944325_68944327del, NC_000015.10:g.68944326_68944327del, NC_000015.10:g.68944327del, NC_000015.10:g.68944327dup, NC_000015.10:g.68944326_68944327dup, NC_000015.9:g.69236664_69236666del, NC_000015.9:g.69236665_69236666del, NC_000015.9:g.69236666del, NC_000015.9:g.69236666dup, NC_000015.9:g.69236665_69236666dup, NG_030464.1:g.18826_18828del, NG_030464.1:g.18827_18828del, NG_030464.1:g.18828del, NG_030464.1:g.18828dup, NG_030464.1:g.18827_18828dup

Select item 14912069729.

rs1491206972 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,TC,TTTC [Show Flanks]
Chromosome:: 15:68985819 (GRCh38)
15:69278159 (GRCh37)
Canonical SPDI:: NC_000015.10:68985819::C,NC_000015.10:68985819::TC,NC_000015.10:68985819::TTTC
Gene:: NOX5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0./0 (ALFA)
TC=0.000004/1 (TOPMED)
TTTC=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.68985819_68985820insC, NC_000015.10:g.68985819_68985820insTC, NC_000015.10:g.68985819_68985820insTTTC, NC_000015.9:g.69278158_69278159insC, NC_000015.9:g.69278158_69278159insTC, NC_000015.9:g.69278158_69278159insTTTC, NG_030464.1:g.60320_60321insC, NG_030464.1:g.60320_60321insTC, NG_030464.1:g.60320_60321insTTTC

Select item 149118739210.

rs1491187392 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 15:68961065 (GRCh38)
15:69253405 (GRCh37)
Canonical SPDI:: NC_000015.10:68961065:TGTGTGTGTGT:TGTGTGTGTGTGT
Gene:: NOX5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
TG=0.000015/2 (GnomAD)
TG=0.000049/13 (TOPMED)
HGVS:: NC_000015.10:g.68961067GT[6], NC_000015.9:g.69253406GT[6], NG_030464.1:g.35568GT[6]

Select item 149116377911.

rs1491163779 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 15:68970470 (GRCh38)
15:69262809 (GRCh37)
Canonical SPDI:: NC_000015.10:68970468:TGT:T
Gene:: NOX5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.68970470_68970471del, NC_000015.9:g.69262809_69262810del, NG_030464.1:g.44971_44972del

Select item 149116242812.

rs1491162428 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 15:68985819 (GRCh38)
15:69278158 (GRCh37)
Canonical SPDI:: NC_000015.10:68985818:TG:
Gene:: NOX5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.68985819_68985820del, NC_000015.9:g.69278158_69278159del, NG_030464.1:g.60320_60321del

Select item 149116151313.

rs1491161513 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA [Show Flanks]
Chromosome:: 15:69017773 (GRCh38)
15:69310113 (GRCh37)
Canonical SPDI:: NC_000015.10:69017773:A:ACA,NC_000015.10:69017773:A:ACACA
Gene:: NOX5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
ACAC=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.69017774_69017775insCA, NC_000015.10:g.69017774_69017775insCACA, NC_000015.9:g.69310113_69310114insCA, NC_000015.9:g.69310113_69310114insCACA, NG_030464.1:g.92275_92276insCA, NG_030464.1:g.92275_92276insCACA

Select item 149115012214.

rs1491150122 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 15:69017775 (GRCh38)
15:69310114 (GRCh37)
Canonical SPDI:: NC_000015.10:69017772:TATA:TA
Gene:: NOX5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATA=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000015.10:g.69017773TA[1], NC_000015.9:g.69310112TA[1], NG_030464.1:g.92274TA[1]

Select item 149114957015.

rs1491149570 has merged into rs78616268 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA,CACACA [Show Flanks]
Chromosome:: 15:68933358 (GRCh38)
15:69225697 (GRCh37)
Canonical SPDI:: NC_000015.10:68933346:ACACACACACACA:ACACACACACA,NC_000015.10:68933346:ACACACACACACA:ACACACACACACACA,NC_000015.10:68933346:ACACACACACACA:ACACACACACACACACA
Gene:: NOX5 (Varview), SPESP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
AC=0.047768/214 (Estonian)
AC=0.065/39 (NorthernSweden)
AC=0.068212/18055 (TOPMED)
AC=0.08016/80 (GoNL)
AC=0.102037/511 (1000Genomes)
AC=0.125/5 (GENOME_DK)
AC=0.168122/308 (Korea1K)
AC=0.193396/41 (Vietnamese)
AC=0.196475/3293 (TOMMO)
HGVS:: NC_000015.10:g.68933348CA[5], NC_000015.10:g.68933348CA[7], NC_000015.10:g.68933348CA[8], NC_000015.9:g.69225687CA[5], NC_000015.9:g.69225687CA[7], NC_000015.9:g.69225687CA[8], NG_030464.1:g.7849CA[5], NG_030464.1:g.7849CA[7], NG_030464.1:g.7849CA[8]

Select item 149111374216.

rs1491113742 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 15:68943074 (GRCh38)
15:69235413 (GRCh37)
Canonical SPDI:: NC_000015.10:68943073:GG:
Gene:: NOX5 (Varview), SPESP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.68943074_68943075del, NC_000015.9:g.69235413_69235414del, NG_030464.1:g.17575_17576del

Select item 149105577417.

rs1491055774 has merged into rs75390989 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 15:68944325 (GRCh38)
15:69236664 (GRCh37)
Canonical SPDI:: NC_000015.10:68944311:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:68944311:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:68944311:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:68944311:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:68944311:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: NOX5 (Varview), SPESP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.01839/11 (NorthernSweden)
-=0.18091/906 (1000Genomes)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000015.10:g.68944325_68944327del, NC_000015.10:g.68944326_68944327del, NC_000015.10:g.68944327del, NC_000015.10:g.68944327dup, NC_000015.10:g.68944326_68944327dup, NC_000015.9:g.69236664_69236666del, NC_000015.9:g.69236665_69236666del, NC_000015.9:g.69236666del, NC_000015.9:g.69236666dup, NC_000015.9:g.69236665_69236666dup, NG_030464.1:g.18826_18828del, NG_030464.1:g.18827_18828del, NG_030464.1:g.18828del, NG_030464.1:g.18828dup, NG_030464.1:g.18827_18828dup

Select item 149105430718.

rs1491054307 has merged into rs71147584 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:68974212 (GRCh38)
15:69266551 (GRCh37)
Canonical SPDI:: NC_000015.10:68974203:TTTTTTTTTTTTTT:TTTTTTTT,NC_000015.10:68974203:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:68974203:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:68974203:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:68974203:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:68974203:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:68974203:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:68974203:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:68974203:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:68974203:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:68974203:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NOX5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.4061/1617 (1000Genomes)
HGVS:: NC_000015.10:g.68974212_68974217del, NC_000015.10:g.68974214_68974217del, NC_000015.10:g.68974215_68974217del, NC_000015.10:g.68974216_68974217del, NC_000015.10:g.68974217del, NC_000015.10:g.68974217dup, NC_000015.10:g.68974216_68974217dup, NC_000015.10:g.68974215_68974217dup, NC_000015.10:g.68974214_68974217dup, NC_000015.10:g.68974213_68974217dup, NC_000015.10:g.68974205_68974217dup, NC_000015.9:g.69266551_69266556del, NC_000015.9:g.69266553_69266556del, NC_000015.9:g.69266554_69266556del, NC_000015.9:g.69266555_69266556del, NC_000015.9:g.69266556del, NC_000015.9:g.69266556dup, NC_000015.9:g.69266555_69266556dup, NC_000015.9:g.69266554_69266556dup, NC_000015.9:g.69266553_69266556dup, NC_000015.9:g.69266552_69266556dup, NC_000015.9:g.69266544_69266556dup, NG_030464.1:g.48713_48718del, NG_030464.1:g.48715_48718del, NG_030464.1:g.48716_48718del, NG_030464.1:g.48717_48718del, NG_030464.1:g.48718del, NG_030464.1:g.48718dup, NG_030464.1:g.48717_48718dup, NG_030464.1:g.48716_48718dup, NG_030464.1:g.48715_48718dup, NG_030464.1:g.48714_48718dup, NG_030464.1:g.48706_48718dup

Select item 149097854219.

rs1490978542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:68930071 (GRCh38)
15:69222410 (GRCh37)
Canonical SPDI:: NC_000015.10:68930070:C:T
Gene:: NOX5 (Varview), SPESP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.68930071C>T, NC_000015.9:g.69222410C>T, NG_030464.1:g.4572C>T

Select item 149095029120.

rs1490950291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:68964491 (GRCh38)
15:69256830 (GRCh37)
Canonical SPDI:: NC_000015.10:68964490:C:A,NC_000015.10:68964490:C:G,NC_000015.10:68964490:C:T
Gene:: NOX5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0./0 (KOREAN)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.68964491C>A, NC_000015.10:g.68964491C>G, NC_000015.10:g.68964491C>T, NC_000015.9:g.69256830C>A, NC_000015.9:g.69256830C>G, NC_000015.9:g.69256830C>T, NG_030464.1:g.38992C>A, NG_030464.1:g.38992C>G, NG_030464.1:g.38992C>T

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