SNP Links for Gene (Select 30820) - SNP

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Select item 14915842811.

rs1491584281 has merged into rs1168722972 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:170683916 (GRCh38)
5:170110920 (GRCh37)
Canonical SPDI:: NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:170683894:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: KCNIP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000005.10:g.170683896GT[10], NC_000005.10:g.170683896GT[11], NC_000005.10:g.170683896GT[13], NC_000005.10:g.170683896GT[14], NC_000005.10:g.170683896GT[15], NC_000005.10:g.170683896GT[16], NC_000005.10:g.170683896GT[17], NC_000005.10:g.170683896GT[18], NC_000005.10:g.170683896GT[19], NC_000005.10:g.170683896GT[21], NC_000005.10:g.170683896GT[22], NC_000005.10:g.170683896GT[23], NC_000005.10:g.170683896GT[24], NC_000005.10:g.170683896GT[25], NC_000005.10:g.170683896GT[26], NC_000005.10:g.170683896GT[27], NC_000005.10:g.170683896GT[29], NC_000005.10:g.170683896GT[30], NC_000005.9:g.170110900GT[10], NC_000005.9:g.170110900GT[11], NC_000005.9:g.170110900GT[13], NC_000005.9:g.170110900GT[14], NC_000005.9:g.170110900GT[15], NC_000005.9:g.170110900GT[16], NC_000005.9:g.170110900GT[17], NC_000005.9:g.170110900GT[18], NC_000005.9:g.170110900GT[19], NC_000005.9:g.170110900GT[21], NC_000005.9:g.170110900GT[22], NC_000005.9:g.170110900GT[23], NC_000005.9:g.170110900GT[24], NC_000005.9:g.170110900GT[25], NC_000005.9:g.170110900GT[26], NC_000005.9:g.170110900GT[27], NC_000005.9:g.170110900GT[29], NC_000005.9:g.170110900GT[30], NG_011538.2:g.335020GT[10], NG_011538.2:g.335020GT[11], NG_011538.2:g.335020GT[13], NG_011538.2:g.335020GT[14], NG_011538.2:g.335020GT[15], NG_011538.2:g.335020GT[16], NG_011538.2:g.335020GT[17], NG_011538.2:g.335020GT[18], NG_011538.2:g.335020GT[19], NG_011538.2:g.335020GT[21], NG_011538.2:g.335020GT[22], NG_011538.2:g.335020GT[23], NG_011538.2:g.335020GT[24], NG_011538.2:g.335020GT[25], NG_011538.2:g.335020GT[26], NG_011538.2:g.335020GT[27], NG_011538.2:g.335020GT[29], NG_011538.2:g.335020GT[30]

Select item 14915770162.

rs1491577016 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGG,GAGGGAGG,GAGGGAGGGAGG,GAGGGAGGGAGGGAGG [Show Flanks]
Chromosome:: 5:170674177 (GRCh38)
5:170101182 (GRCh37)
Canonical SPDI:: NC_000005.10:170674177:AGG:AGGGAGG,NC_000005.10:170674177:AGG:AGGGAGGGAGG,NC_000005.10:170674177:AGG:AGGGAGGGAGGGAGG,NC_000005.10:170674177:AGG:AGGGAGGGAGGGAGGGAGG
Gene:: KCNIP1 (Varview), KCNIP1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGGAGGGAGG=0./0 (ALFA)
HGVS:: NC_000005.10:g.170674180_170674181insGAGG, NC_000005.10:g.170674180_170674181insGAGGGAGG, NC_000005.10:g.170674181GAGG[3], NC_000005.10:g.170674181GAGG[4], NC_000005.9:g.170101184_170101185insGAGG, NC_000005.9:g.170101184_170101185insGAGGGAGG, NC_000005.9:g.170101185GAGG[3], NC_000005.9:g.170101185GAGG[4], NG_011538.2:g.325304_325305insGAGG, NG_011538.2:g.325304_325305insGAGGGAGG, NG_011538.2:g.325305GAGG[3], NG_011538.2:g.325305GAGG[4]

Select item 14915702963.

rs1491570296 has merged into rs1299703518 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 5:170633718 (GRCh38)
5:170060722 (GRCh37)
Canonical SPDI:: NC_000005.10:170633713:GGGGGGG:GGGG,NC_000005.10:170633713:GGGGGGG:GGGGG,NC_000005.10:170633713:GGGGGGG:GGGGGG,NC_000005.10:170633713:GGGGGGG:GGGGGGGG,NC_000005.10:170633713:GGGGGGG:GGGGGGGGG,NC_000005.10:170633713:GGGGGGG:GGGGGGGGGG
Gene:: KCNIP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.00007/2 (GnomAD)
G=0.25/2 (KOREAN)
HGVS:: NC_000005.10:g.170633718_170633720del, NC_000005.10:g.170633719_170633720del, NC_000005.10:g.170633720del, NC_000005.10:g.170633720dup, NC_000005.10:g.170633719_170633720dup, NC_000005.10:g.170633718_170633720dup, NC_000005.9:g.170060722_170060724del, NC_000005.9:g.170060723_170060724del, NC_000005.9:g.170060724del, NC_000005.9:g.170060724dup, NC_000005.9:g.170060723_170060724dup, NC_000005.9:g.170060722_170060724dup, NG_011538.2:g.284842_284844del, NG_011538.2:g.284843_284844del, NG_011538.2:g.284844del, NG_011538.2:g.284844dup, NG_011538.2:g.284843_284844dup, NG_011538.2:g.284842_284844dup

Select item 14915620194.

rs1491562019 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:170367393 (GRCh38)
5:169794397 (GRCh37)
Canonical SPDI:: NC_000005.10:170367391:AGA:A
Gene:: KCNIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.170367393_170367394del, NC_000005.9:g.169794397_169794398del, NG_011538.2:g.18517_18518del

Select item 14915618385.

rs1491561838 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:170674177 (GRCh38)
5:170101181 (GRCh37)
Canonical SPDI:: NC_000005.10:170674176:AA:
Gene:: KCNIP1 (Varview), KCNIP1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00697/4 (NorthernSweden)
-=0.01346/199 (TOMMO)
-=0.02275/40 (Korea1K)
HGVS:: NC_000005.10:g.170674177_170674178del, NC_000005.9:g.170101181_170101182del, NG_011538.2:g.325301_325302del

Select item 14915363336.

rs1491536333 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:170367384 (GRCh38)
5:169794389 (GRCh37)
Canonical SPDI:: NC_000005.10:170367384:G:GG
Gene:: KCNIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0.00025/3 (ALFA)
HGVS:: NC_000005.10:g.170367385dup, NC_000005.9:g.169794389dup, NG_011538.2:g.18509dup

Select item 14915316947.

rs1491531694 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGAGA [Show Flanks]
Chromosome:: 5:170367409 (GRCh38)
5:169794413 (GRCh37)
Canonical SPDI:: NC_000005.10:170367407:AGA:A,NC_000005.10:170367407:AGA:AGAGAGA
Gene:: KCNIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGAGA=0./0 (ALFA)
HGVS:: NC_000005.10:g.170367409_170367410del, NC_000005.10:g.170367409GA[3], NC_000005.9:g.169794413_169794414del, NC_000005.9:g.169794413GA[3], NG_011538.2:g.18533_18534del, NG_011538.2:g.18533GA[3]

Select item 14915180868.

rs1491518086 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:170633735 (GRCh38)
5:170060740 (GRCh37)
Canonical SPDI:: NC_000005.10:170633735:A:AA
Gene:: KCNIP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000005.10:g.170633736dup, NC_000005.9:g.170060740dup, NG_011538.2:g.284860dup

Select item 14915155409.

rs1491515540 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:170441951 (GRCh38)
5:169868955 (GRCh37)
Canonical SPDI:: NC_000005.10:170441950:CA:
Gene:: KCNIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00126/15 (ALFA)
-=0.00277/45 (TOMMO)
HGVS:: NC_000005.10:g.170441951_170441952del, NC_000005.9:g.169868955_169868956del, NG_011538.2:g.93075_93076del

Select item 149151129810.

rs1491511298 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:170656996 (GRCh38)
5:170084000 (GRCh37)
Canonical SPDI:: NC_000005.10:170656994:TCT:T
Gene:: KCNIP1 (Varview), KCNIP1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.008177/97 (ALFA)
-=0.002867/47 (TOMMO)
-=0.008782/16 (Korea1K)
-=0.009879/1125 (GnomAD)
-=0.01218/78 (1000Genomes)
HGVS:: NC_000005.10:g.170656996_170656997del, NC_000005.9:g.170084000_170084001del, NG_011538.2:g.308120_308121del

Select item 149150988111.

rs1491509881 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:170623222 (GRCh38)
5:170050226 (GRCh37)
Canonical SPDI:: NC_000005.10:170623220:TCT:T
Gene:: KCNIP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.170623222_170623223del, NC_000005.9:g.170050226_170050227del, NG_011538.2:g.274346_274347del

Select item 149148942412.

rs1491489424 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAGAAAG [Show Flanks]
Chromosome:: 5:170367402 (GRCh38)
5:169794407 (GRCh37)
Canonical SPDI:: NC_000005.10:170367402:AAGAAAG:AAGAAAGGAAGAAAG
Gene:: KCNIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: AAGAAAGG=0.000009/1 (GnomAD)
HGVS:: NC_000005.10:g.170367409_170367410insGAAGAAAG, NC_000005.9:g.169794413_169794414insGAAGAAAG, NG_011538.2:g.18533_18534insGAAGAAAG

Select item 149148090313.

rs1491480903 has merged into rs1554093873 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTTT,TTTTTT [Show Flanks]
Chromosome:: 5:170456703 (GRCh38)
5:169883707 (GRCh37)
Canonical SPDI:: NC_000005.10:170456699:TTTTT:TTT,NC_000005.10:170456699:TTTTT:TTTT,NC_000005.10:170456699:TTTTT:TTTTTTT,NC_000005.10:170456699:TTTTT:TTTTTTTTT
Gene:: KCNIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.00014/3 (GnomAD)
HGVS:: NC_000005.10:g.170456703_170456704del, NC_000005.10:g.170456704del, NC_000005.10:g.170456703_170456704dup, NC_000005.10:g.170456701_170456704dup, NC_000005.9:g.169883707_169883708del, NC_000005.9:g.169883708del, NC_000005.9:g.169883707_169883708dup, NC_000005.9:g.169883705_169883708dup, NG_011538.2:g.107827_107828del, NG_011538.2:g.107828del, NG_011538.2:g.107827_107828dup, NG_011538.2:g.107825_107828dup

Select item 149147347614.

rs1491473476 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCGTGTGTGTG,CGTGTGTGTG [Show Flanks]
Chromosome:: 5:170598890 (GRCh38)
5:170025895 (GRCh37)
Canonical SPDI:: NC_000005.10:170598890:GTGTGTGTG:GTGTGTGTGCGCGTGTGTGTG,NC_000005.10:170598890:GTGTGTGTG:GTGTGTGTGCGTGTGTGTG
Gene:: KCNIP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGCGTGTGTGTG=0./0 (ALFA)
GTGTGTGTGC=0.00006/1 (TOMMO)
HGVS:: NC_000005.10:g.170598891_170598899GT[4]GC[2]GT[4]G[1], NC_000005.10:g.170598891_170598899GT[4]GCGTGTGTGTG[1], NC_000005.9:g.170025895_170025903GT[4]GC[2]GT[4]G[1], NC_000005.9:g.170025895_170025903GT[4]GCGTGTGTGTG[1], NG_011538.2:g.250015_250023GT[4]GC[2]GT[4]G[1], NG_011538.2:g.250015_250023GT[4]GCGTGTGTGTG[1]

Select item 149146888515.

rs1491468885 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCGTGTGCGTGTGTG,CGCGTGTGTG,CGCGTGTGTGCGTGTGTG,CGTGTGTG [Show Flanks]
Chromosome:: 5:170598892 (GRCh38)
5:170025897 (GRCh37)
Canonical SPDI:: NC_000005.10:170598892:GTGTGTG:GTGTGTGCGCGTGTGCGTGTGTG,NC_000005.10:170598892:GTGTGTG:GTGTGTGCGCGTGTGTG,NC_000005.10:170598892:GTGTGTG:GTGTGTGCGCGTGTGTGCGTGTGTG,NC_000005.10:170598892:GTGTGTG:GTGTGTGCGTGTGTG
Gene:: KCNIP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGCGCGTGTGTG=0./0 (ALFA)
GTGTGTGC=0.00245/3 (Korea1K)
HGVS:: NC_000005.10:g.170598893_170598899GT[3]GC[2]GT[2]GCGTGTGTG[1], NC_000005.10:g.170598893_170598899GT[3]GC[2]GT[3]G[1], NC_000005.10:g.170598893_170598899GT[3]GC[2]GT[3]GCGTGTGTG[1], NC_000005.10:g.170598893_170598899GT[3]GCGTGTGTG[1], NC_000005.9:g.170025897_170025903GT[3]GC[2]GT[2]GCGTGTGTG[1], NC_000005.9:g.170025897_170025903GT[3]GC[2]GT[3]G[1], NC_000005.9:g.170025897_170025903GT[3]GC[2]GT[3]GCGTGTGTG[1], NC_000005.9:g.170025897_170025903GT[3]GCGTGTGTG[1], NG_011538.2:g.250017_250023GT[3]GC[2]GT[2]GCGTGTGTG[1], NG_011538.2:g.250017_250023GT[3]GC[2]GT[3]G[1], NG_011538.2:g.250017_250023GT[3]GC[2]GT[3]GCGTGTGTG[1], NG_011538.2:g.250017_250023GT[3]GCGTGTGTG[1]

Select item 149146754516.

rs1491467545 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AGGGGGC,C [Show Flanks]
Chromosome:: 5:170633714 (GRCh38)
5:170060719 (GRCh37)
Canonical SPDI:: NC_000005.10:170633714::A,NC_000005.10:170633714::AGGGGGC,NC_000005.10:170633714::C
Gene:: KCNIP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.170633714_170633715insA, NC_000005.10:g.170633714_170633715insAGGGGGC, NC_000005.10:g.170633714_170633715insC, NC_000005.9:g.170060718_170060719insA, NC_000005.9:g.170060718_170060719insAGGGGGC, NC_000005.9:g.170060718_170060719insC, NG_011538.2:g.284838_284839insA, NG_011538.2:g.284838_284839insAGGGGGC, NG_011538.2:g.284838_284839insC

Select item 149146307917.

rs1491463079 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:170552023 (GRCh38)
5:169979027 (GRCh37)
Canonical SPDI:: NC_000005.10:170552022:AT:
Gene:: KCNIP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.170552023_170552024del, NC_000005.9:g.169979027_169979028del, NG_011538.2:g.203147_203148del

Select item 149143247718.

rs1491432477 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCGGTGCGGTGCGGTGCGGTGG [Show Flanks]
Chromosome:: 5:170589796 (GRCh38)
5:170016801 (GRCh37)
Canonical SPDI:: NC_000005.10:170589796:G:GGCGGTGCGGTGCGGTGCGGTGG
Gene:: KCNIP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000005.10:g.170589797_170589798insGCGGTGCGGTGCGGTGCGGTGG, NC_000005.9:g.170016801_170016802insGCGGTGCGGTGCGGTGCGGTGG, NG_011538.2:g.240921_240922insGCGGTGCGGTGCGGTGCGGTGG

Select item 149140439619.

rs1491404396 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GATAGA [Show Flanks]
Chromosome:: 5:170367377 (GRCh38)
5:169794381 (GRCh37)
Canonical SPDI:: NC_000005.10:170367375:AGA:A,NC_000005.10:170367375:AGA:AGAGA,NC_000005.10:170367375:AGA:AGATAGA
Gene:: KCNIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
HGVS:: NC_000005.10:g.170367377_170367378del, NC_000005.10:g.170367377_170367378dup, NC_000005.10:g.170367378_170367379insTAGA, NC_000005.9:g.169794381_169794382del, NC_000005.9:g.169794381_169794382dup, NC_000005.9:g.169794382_169794383insTAGA, NG_011538.2:g.18501_18502del, NG_011538.2:g.18501_18502dup, NG_011538.2:g.18502_18503insTAGA

Select item 149139440220.

rs1491394402 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:170674165 (GRCh38)
5:170101169 (GRCh37)
Canonical SPDI:: NC_000005.10:170674164:AA:
Gene:: KCNIP1 (Varview), KCNIP1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000005.10:g.170674165_170674166del, NC_000005.9:g.170101169_170101170del, NG_011538.2:g.325289_325290del

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