SNP Links for Gene (Select 54934) - SNP

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Select item 14915795181.

rs1491579518 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATATATATATAC [Show Flanks]
Chromosome:: 12:48672392 (GRCh38)
12:49066176 (GRCh37)
Canonical SPDI:: NC_000012.12:48672392::ATATATATATAC
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: ATATATATATAC=0.000182/23 (GnomAD)
HGVS:: NC_000012.12:g.48672392_48672393insATATATATATAC, NC_000012.11:g.49066175_49066176insATATATATATAC

Select item 14915473652.

rs1491547365 [Homo sapiens]

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

Select item 14915155083.

rs1491515508 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:48672377 (GRCh38)
12:49066160 (GRCh37)
Canonical SPDI:: NC_000012.12:48672376:GT:
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000012.12:g.48672377_48672378del, NC_000012.11:g.49066160_49066161del

Select item 14914834864.

rs1491483486 has merged into rs1491159042 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 12:48672393 (GRCh38)
12:49066176 (GRCh37)
Canonical SPDI:: NC_000012.12:48672391:TGT:T,NC_000012.12:48672391:TGT:TGTGT
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
TG=0.000103/13 (GnomAD)
HGVS:: NC_000012.12:g.48672393_48672394del, NC_000012.12:g.48672393_48672394dup, NC_000012.11:g.49066176_49066177del, NC_000012.11:g.49066176_49066177dup

Select item 14914757405.

rs1491475740 [Homo sapiens]

Variant type:: INS
Alleles:: ->GC,GCATATATATATATACGTATATATATATATATATATATAC [Show Flanks]
Chromosome:: 12:48672410 (GRCh38)
12:49066194 (GRCh37)
Canonical SPDI:: NC_000012.12:48672410::GC,NC_000012.12:48672410::GCATATATATATATACGTATATATATATATATATATATAC
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0.00733/87 (ALFA)
HGVS:: NC_000012.12:g.48672410_48672411insGC, NC_000012.12:g.48672410_48672411insGCATATATATATATACGTATATATATATATATATATATAC, NC_000012.11:g.49066193_49066194insGC, NC_000012.11:g.49066193_49066194insGCATATATATATATACGTATATATATATATATATATATAC

Select item 14914676176.

rs1491467617 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:48664577 (GRCh38)
12:49058360 (GRCh37)
Canonical SPDI:: NC_000012.12:48664576:CT:
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000089/9 (GnomAD)
HGVS:: NC_000012.12:g.48664577_48664578del, NC_000012.11:g.49058360_49058361del

Select item 14914360627.

rs1491436062 has merged into rs998410049 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATATATA [Show Flanks]
Chromosome:: 12:48672386 (GRCh38)
12:49066169 (GRCh37)
Canonical SPDI:: NC_000012.12:48672377:TATATATATATA:TATATATA,NC_000012.12:48672377:TATATATATATA:TATATATATA,NC_000012.12:48672377:TATATATATATA:TATATATATATATA,NC_000012.12:48672377:TATATATATATA:TATATATATATATATATATA
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
TA=0.000142/2 (TOMMO)
HGVS:: NC_000012.12:g.48672378TA[4], NC_000012.12:g.48672378TA[5], NC_000012.12:g.48672378TA[7], NC_000012.12:g.48672378TA[10], NC_000012.11:g.49066161TA[4], NC_000012.11:g.49066161TA[5], NC_000012.11:g.49066161TA[7], NC_000012.11:g.49066161TA[10]

Select item 14914312318.

rs1491431231 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 12:48672408 (GRCh38)
12:49066191 (GRCh37)
Canonical SPDI:: NC_000012.12:48672407:CG:
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000169/2 (ALFA)
-=0.000124/14 (GnomAD)
HGVS:: NC_000012.12:g.48672408_48672409del, NC_000012.11:g.49066191_49066192del

Select item 14914255139.

rs1491425513 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:48663913 (GRCh38)
12:49057696 (GRCh37)
Canonical SPDI:: NC_000012.12:48663912:CT:
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000071/2 (TOMMO)
-=0.000145/18 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000012.12:g.48663913_48663914del, NC_000012.11:g.49057696_49057697del

Select item 149137520110.

rs1491375201 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:48672391 (GRCh38)
12:49066174 (GRCh37)
Canonical SPDI:: NC_000012.12:48672390:AT:
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000735/12 (ALFA)
-=0.000035/1 (TOMMO)
-=0.003779/441 (GnomAD)
HGVS:: NC_000012.12:g.48672391_48672392del, NC_000012.11:g.49066174_49066175del

Select item 149135475711.

rs1491354757 has merged into rs777405371 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TTT,TTTTT [Show Flanks]
Chromosome:: 12:48671345 (GRCh38)
12:49065128 (GRCh37)
Canonical SPDI:: NC_000012.12:48671341:TTTTTTT:TTT,NC_000012.12:48671341:TTTTTTT:TTTTTT,NC_000012.12:48671341:TTTTTTT:TTTTTTTT
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.00164/3 (Korea1K)
HGVS:: NC_000012.12:g.48671345_48671348del, NC_000012.12:g.48671348del, NC_000012.12:g.48671348dup, NC_000012.11:g.49065128_49065131del, NC_000012.11:g.49065131del, NC_000012.11:g.49065131dup

Select item 149129441812.

rs1491294418 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 12:48670198 (GRCh38)
12:49063981 (GRCh37)
Canonical SPDI:: NC_000012.12:48670195:CACA:CA,NC_000012.12:48670195:CACA:CACACA
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACA=0./0 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000012.12:g.48670196CA[1], NC_000012.12:g.48670196CA[3], NC_000012.11:g.49063979CA[1], NC_000012.11:g.49063979CA[3]

Select item 149125344813.

rs1491253448 has merged into rs10622680 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATATACACGTATATATATATATATATATATATATAT,ATATATATATACGTATATATATATATATATATATATATAT,ATATATATATAT,ATATATATATATACGTATATATATATATATATATATATATAT,ATATATATATATACGTATATATATATATATATATATATATATAT,ATATATATATATACTTATATATATATATATATATATATATAT,ATATATATATATAT,ATATATATATATATACGTATATATATATATATATATATATATAT,ATATATATATATATACGTATATATATATATATATATATATATATAT,ATATATATATATATACGTATATATATATATATATATATATATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATGTATATATATATATATATATATATATAT,ATATATATATATATATGTATATATATATATATATATATATATATATACGTATATATATATATATATATATATATAT,ATATATATATATATGTATATATATATATATATATATATATAT,ATATATATATATGTATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 12:48672425 (GRCh38)
12:49066208 (GRCh37)
Canonical SPDI:: NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATACACGTATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATACGTATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATACGTATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATACGTATATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATACTTATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATACGTATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATACGTATATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATACGTATATATATATATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATGTATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATGTATATATATATATATATATATATATATATACGTATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATGTATATATATATATATATATATATATAT,NC_000012.12:48672409:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATGTATATATATATATATATATATATATATAT
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
TA=0.453075/2269 (1000Genomes)
HGVS:: NC_000012.12:g.48672411AT[7], NC_000012.12:g.48672411AT[8], NC_000012.12:g.48672411AT[9], NC_000012.12:g.48672411AT[10], NC_000012.12:g.48672411AT[11], NC_000012.12:g.48672410_48672434TA[13]CACGTATATATATATATATATATATATATAT[1], NC_000012.12:g.48672410_48672434TA[13]CGTATATATATATATATATATATATATAT[1], NC_000012.12:g.48672411AT[13], NC_000012.12:g.48672410_48672434TA[14]CGTATATATATATATATATATATATATAT[1], NC_000012.12:g.48672410_48672434TA[14]CGTATATATATATATATATATATATATATAT[1], NC_000012.12:g.48672410_48672434TA[14]CTTATATATATATATATATATATATATAT[1], NC_000012.12:g.48672411AT[14], NC_000012.12:g.48672410_48672434TA[15]CGTATATATATATATATATATATATATAT[1], NC_000012.12:g.48672410_48672434TA[15]CGTATATATATATATATATATATATATATAT[1], NC_000012.12:g.48672410_48672434TA[15]CGTATATATATATATATATATATATATATATATATATAT[1], NC_000012.12:g.48672411AT[15], NC_000012.12:g.48672411AT[16], NC_000012.12:g.48672411AT[17], NC_000012.12:g.48672411AT[18], NC_000012.12:g.48672410_48672434TA[15]TGTATATATATATATATATATATATATAT[1], NC_000012.12:g.48672410_48672434TA[15]TGTATATATATATATATATATATATATATATACGTATATATATATATATATATATATATAT[1], NC_000012.12:g.48672410_48672434TA[14]TGTATATATATATATATATATATATATAT[1], NC_000012.12:g.48672410_48672434TA[13]TGTATATATATATATATATATATATATATAT[1], NC_000012.11:g.49066194AT[7], NC_000012.11:g.49066194AT[8], NC_000012.11:g.49066194AT[9], NC_000012.11:g.49066194AT[10], NC_000012.11:g.49066194AT[11], NC_000012.11:g.49066193_49066217TA[13]CACGTATATATATATATATATATATATATAT[1], NC_000012.11:g.49066193_49066217TA[13]CGTATATATATATATATATATATATATAT[1], NC_000012.11:g.49066194AT[13], NC_000012.11:g.49066193_49066217TA[14]CGTATATATATATATATATATATATATAT[1], NC_000012.11:g.49066193_49066217TA[14]CGTATATATATATATATATATATATATATAT[1], NC_000012.11:g.49066193_49066217TA[14]CTTATATATATATATATATATATATATAT[1], NC_000012.11:g.49066194AT[14], NC_000012.11:g.49066193_49066217TA[15]CGTATATATATATATATATATATATATAT[1], NC_000012.11:g.49066193_49066217TA[15]CGTATATATATATATATATATATATATATAT[1], NC_000012.11:g.49066193_49066217TA[15]CGTATATATATATATATATATATATATATATATATATAT[1], NC_000012.11:g.49066194AT[15], NC_000012.11:g.49066194AT[16], NC_000012.11:g.49066194AT[17], NC_000012.11:g.49066194AT[18], NC_000012.11:g.49066193_49066217TA[15]TGTATATATATATATATATATATATATAT[1], NC_000012.11:g.49066193_49066217TA[15]TGTATATATATATATATATATATATATATATACGTATATATATATATATATATATATATAT[1], NC_000012.11:g.49066193_49066217TA[14]TGTATATATATATATATATATATATATAT[1], NC_000012.11:g.49066193_49066217TA[13]TGTATATATATATATATATATATATATATAT[1]

Select item 149123120514.

rs1491231205 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:48677784 (GRCh38)
12:49071567 (GRCh37)
Canonical SPDI:: NC_000012.12:48677783:CA:
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.48677784_48677785del, NC_000012.11:g.49071567_49071568del

Select item 149122699815.

rs1491226998 has merged into rs149545016 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:48656619 (GRCh38)
12:49050402 (GRCh37)
Canonical SPDI:: NC_000012.12:48656610:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:48656610:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:48656610:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:48656610:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:48656610:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:48656610:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:48656610:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:48656610:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:48656610:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:48656610:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:48656610:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KANSL2 (Varview), SNORA2A (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000012.12:g.48656619_48656630del, NC_000012.12:g.48656623_48656630del, NC_000012.12:g.48656627_48656630del, NC_000012.12:g.48656628_48656630del, NC_000012.12:g.48656629_48656630del, NC_000012.12:g.48656630del, NC_000012.12:g.48656630dup, NC_000012.12:g.48656629_48656630dup, NC_000012.12:g.48656627_48656630dup, NC_000012.12:g.48656626_48656630dup, NC_000012.12:g.48656618_48656630dup, NC_000012.11:g.49050402_49050413del, NC_000012.11:g.49050406_49050413del, NC_000012.11:g.49050410_49050413del, NC_000012.11:g.49050411_49050413del, NC_000012.11:g.49050412_49050413del, NC_000012.11:g.49050413del, NC_000012.11:g.49050413dup, NC_000012.11:g.49050412_49050413dup, NC_000012.11:g.49050410_49050413dup, NC_000012.11:g.49050409_49050413dup, NC_000012.11:g.49050401_49050413dup

Select item 149115904216.

rs1491159042 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 12:48672393 (GRCh38)
12:49066176 (GRCh37)
Canonical SPDI:: NC_000012.12:48672391:TGT:T,NC_000012.12:48672391:TGT:TGTGT
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
TG=0.000103/13 (GnomAD)
HGVS:: NC_000012.12:g.48672393_48672394del, NC_000012.12:g.48672393_48672394dup, NC_000012.11:g.49066176_49066177del, NC_000012.11:g.49066176_49066177dup

Select item 149112496217.

rs1491124962 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 12:48672408 (GRCh38)
12:49066192 (GRCh37)
Canonical SPDI:: NC_000012.12:48672408:GT:GTGT
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
GT=0.00042/7 (TOMMO)
GT=0.00064/62 (GnomAD)
GT=0.00227/4 (Korea1K)
HGVS:: NC_000012.12:g.48672409_48672410dup, NC_000012.11:g.49066192_49066193dup

Select item 149110742518.

rs1491107425 has merged into rs35805896 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:48664587 (GRCh38)
12:49058370 (GRCh37)
Canonical SPDI:: NC_000012.12:48664577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:48664577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:48664577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:48664577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:48664577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:48664577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:48664577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:48664577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:48664577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48664577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48664577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48664577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48664577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48664577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.48664587_48664599del, NC_000012.12:g.48664592_48664599del, NC_000012.12:g.48664593_48664599del, NC_000012.12:g.48664594_48664599del, NC_000012.12:g.48664595_48664599del, NC_000012.12:g.48664596_48664599del, NC_000012.12:g.48664597_48664599del, NC_000012.12:g.48664598_48664599del, NC_000012.12:g.48664599del, NC_000012.12:g.48664599dup, NC_000012.12:g.48664598_48664599dup, NC_000012.12:g.48664597_48664599dup, NC_000012.12:g.48664596_48664599dup, NC_000012.12:g.48664595_48664599dup, NC_000012.11:g.49058370_49058382del, NC_000012.11:g.49058375_49058382del, NC_000012.11:g.49058376_49058382del, NC_000012.11:g.49058377_49058382del, NC_000012.11:g.49058378_49058382del, NC_000012.11:g.49058379_49058382del, NC_000012.11:g.49058380_49058382del, NC_000012.11:g.49058381_49058382del, NC_000012.11:g.49058382del, NC_000012.11:g.49058382dup, NC_000012.11:g.49058381_49058382dup, NC_000012.11:g.49058380_49058382dup, NC_000012.11:g.49058379_49058382dup, NC_000012.11:g.49058378_49058382dup

Select item 149106860619.

rs1491068606 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:48678826 (GRCh38)
12:49072609 (GRCh37)
Canonical SPDI:: NC_000012.12:48678825:CT:
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48678826_48678827del, NC_000012.11:g.49072609_49072610del

Select item 149106527920.

rs1491065279 has merged into rs34879709 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:48663923 (GRCh38)
12:49057706 (GRCh37)
Canonical SPDI:: NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:48663913:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KANSL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.48663923_48663935del, NC_000012.12:g.48663924_48663935del, NC_000012.12:g.48663925_48663935del, NC_000012.12:g.48663926_48663935del, NC_000012.12:g.48663927_48663935del, NC_000012.12:g.48663928_48663935del, NC_000012.12:g.48663929_48663935del, NC_000012.12:g.48663930_48663935del, NC_000012.12:g.48663931_48663935del, NC_000012.12:g.48663932_48663935del, NC_000012.12:g.48663933_48663935del, NC_000012.12:g.48663934_48663935del, NC_000012.12:g.48663935del, NC_000012.12:g.48663935dup, NC_000012.12:g.48663934_48663935dup, NC_000012.12:g.48663933_48663935dup, NC_000012.12:g.48663932_48663935dup, NC_000012.12:g.48663931_48663935dup, NC_000012.12:g.48663930_48663935dup, NC_000012.12:g.48663929_48663935dup, NC_000012.12:g.48663927_48663935dup, NC_000012.12:g.48663935_48663936insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.49057706_49057718del, NC_000012.11:g.49057707_49057718del, NC_000012.11:g.49057708_49057718del, NC_000012.11:g.49057709_49057718del, NC_000012.11:g.49057710_49057718del, NC_000012.11:g.49057711_49057718del, NC_000012.11:g.49057712_49057718del, NC_000012.11:g.49057713_49057718del, NC_000012.11:g.49057714_49057718del, NC_000012.11:g.49057715_49057718del, NC_000012.11:g.49057716_49057718del, NC_000012.11:g.49057717_49057718del, NC_000012.11:g.49057718del, NC_000012.11:g.49057718dup, NC_000012.11:g.49057717_49057718dup, NC_000012.11:g.49057716_49057718dup, NC_000012.11:g.49057715_49057718dup, NC_000012.11:g.49057714_49057718dup, NC_000012.11:g.49057713_49057718dup, NC_000012.11:g.49057712_49057718dup, NC_000012.11:g.49057710_49057718dup, NC_000012.11:g.49057718_49057719insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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