SNP Links for Gene (Select 11278) - SNP

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Select item 14915844191.

rs1491584419 has merged into rs58422903 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA [Show Flanks]
Chromosome:: 13:74022681 (GRCh38)
13:74596818 (GRCh37)
Canonical SPDI:: NC_000013.11:74022668:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:74022668:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:74022668:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:74022668:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:74022668:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: KLF12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.125/5 (GENOME_DK)
A=0.131/71 (NorthernSweden)
A=0.1562/782 (1000Genomes)
HGVS:: NC_000013.11:g.74022681_74022684del, NC_000013.11:g.74022682_74022684del, NC_000013.11:g.74022683_74022684del, NC_000013.11:g.74022684del, NC_000013.11:g.74022684dup, NC_000013.10:g.74596818_74596821del, NC_000013.10:g.74596819_74596821del, NC_000013.10:g.74596820_74596821del, NC_000013.10:g.74596821del, NC_000013.10:g.74596821dup

Select item 14915759532.

rs1491575953 has merged into rs34644776 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:73797779 (GRCh38)
13:74371916 (GRCh37)
Canonical SPDI:: NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:73797769:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.3/12 (GENOME_DK)
-=0.3123/1564 (1000Genomes)
HGVS:: NC_000013.11:g.73797779_73797793del, NC_000013.11:g.73797781_73797793del, NC_000013.11:g.73797782_73797793del, NC_000013.11:g.73797783_73797793del, NC_000013.11:g.73797784_73797793del, NC_000013.11:g.73797786_73797793del, NC_000013.11:g.73797787_73797793del, NC_000013.11:g.73797788_73797793del, NC_000013.11:g.73797789_73797793del, NC_000013.11:g.73797790_73797793del, NC_000013.11:g.73797791_73797793del, NC_000013.11:g.73797792_73797793del, NC_000013.11:g.73797793del, NC_000013.11:g.73797793dup, NC_000013.11:g.73797792_73797793dup, NC_000013.11:g.73797791_73797793dup, NC_000013.11:g.73797790_73797793dup, NC_000013.11:g.73797789_73797793dup, NC_000013.11:g.73797787_73797793dup, NC_000013.10:g.74371916_74371930del, NC_000013.10:g.74371918_74371930del, NC_000013.10:g.74371919_74371930del, NC_000013.10:g.74371920_74371930del, NC_000013.10:g.74371921_74371930del, NC_000013.10:g.74371923_74371930del, NC_000013.10:g.74371924_74371930del, NC_000013.10:g.74371925_74371930del, NC_000013.10:g.74371926_74371930del, NC_000013.10:g.74371927_74371930del, NC_000013.10:g.74371928_74371930del, NC_000013.10:g.74371929_74371930del, NC_000013.10:g.74371930del, NC_000013.10:g.74371930dup, NC_000013.10:g.74371929_74371930dup, NC_000013.10:g.74371928_74371930dup, NC_000013.10:g.74371927_74371930dup, NC_000013.10:g.74371926_74371930dup, NC_000013.10:g.74371924_74371930dup

Select item 14915654503.

rs1491565450 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 13:73976152 (GRCh38)
13:74550289 (GRCh37)
Canonical SPDI:: NC_000013.11:73976151:GT:
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0026/10 (ALSPAC)
-=0.0046/17 (TWINSUK)
HGVS:: NC_000013.11:g.73976152_73976153del, NC_000013.10:g.74550289_74550290del

Select item 14915644314.

rs1491564431 has merged into rs370470466 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 13:73994474 (GRCh38)
13:74568611 (GRCh37)
Canonical SPDI:: NC_000013.11:73994472:CAC:C
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003127/51 (ALFA)
-=0.002754/729 (TOPMED)
-=0.003544/480 (GnomAD)
-=0.004038/18 (Estonian)
-=0.004176/70 (TOMMO)
-=0.020197/37 (Korea1K)
HGVS:: NC_000013.11:g.73994474_73994475del, NC_000013.10:g.74568611_74568612del

Select item 14915561665.

rs1491556166 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGT [Show Flanks]
Chromosome:: 13:74060482 (GRCh38)
13:74634620 (GRCh37)
Canonical SPDI:: NC_000013.11:74060482:T:TGT,NC_000013.11:74060482:T:TGTGT,NC_000013.11:74060482:T:TGTGTGT
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000013.11:g.74060483_74060484insGT, NC_000013.11:g.74060483_74060484insGTGT, NC_000013.11:g.74060484GT[3], NC_000013.10:g.74634620_74634621insGT, NC_000013.10:g.74634620_74634621insGTGT, NC_000013.10:g.74634621GT[3]

Select item 14915555266.

rs1491555526 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 13:73916209 (GRCh38)
13:74490347 (GRCh37)
Canonical SPDI:: NC_000013.11:73916209:C:CGC
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
HGVS:: NC_000013.11:g.73916210_73916211insGC, NC_000013.10:g.74490347_74490348insGC

Select item 14915543947.

rs1491554394 has merged into rs376490803 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:73810993 (GRCh38)
13:74385130 (GRCh37)
Canonical SPDI:: NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:73810982:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.73810993_73811007del, NC_000013.11:g.73810994_73811007del, NC_000013.11:g.73810995_73811007del, NC_000013.11:g.73810996_73811007del, NC_000013.11:g.73810997_73811007del, NC_000013.11:g.73810998_73811007del, NC_000013.11:g.73810999_73811007del, NC_000013.11:g.73811000_73811007del, NC_000013.11:g.73811001_73811007del, NC_000013.11:g.73811002_73811007del, NC_000013.11:g.73811003_73811007del, NC_000013.11:g.73811004_73811007del, NC_000013.11:g.73811005_73811007del, NC_000013.11:g.73811006_73811007del, NC_000013.11:g.73811007del, NC_000013.11:g.73811007dup, NC_000013.11:g.73811006_73811007dup, NC_000013.11:g.73811005_73811007dup, NC_000013.11:g.73811004_73811007dup, NC_000013.11:g.73811003_73811007dup, NC_000013.11:g.73811002_73811007dup, NC_000013.11:g.73811001_73811007dup, NC_000013.11:g.73811000_73811007dup, NC_000013.11:g.73810999_73811007dup, NC_000013.11:g.73810998_73811007dup, NC_000013.11:g.73810997_73811007dup, NC_000013.11:g.73810996_73811007dup, NC_000013.11:g.73810995_73811007dup, NC_000013.11:g.73810994_73811007dup, NC_000013.11:g.73810992_73811007dup, NC_000013.11:g.73810991_73811007dup, NC_000013.11:g.73810990_73811007dup, NC_000013.11:g.73810989_73811007dup, NC_000013.11:g.73810988_73811007dup, NC_000013.11:g.73810986_73811007dup, NC_000013.11:g.73811007_73811008insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.73811007_73811008insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.74385130_74385144del, NC_000013.10:g.74385131_74385144del, NC_000013.10:g.74385132_74385144del, NC_000013.10:g.74385133_74385144del, NC_000013.10:g.74385134_74385144del, NC_000013.10:g.74385135_74385144del, NC_000013.10:g.74385136_74385144del, NC_000013.10:g.74385137_74385144del, NC_000013.10:g.74385138_74385144del, NC_000013.10:g.74385139_74385144del, NC_000013.10:g.74385140_74385144del, NC_000013.10:g.74385141_74385144del, NC_000013.10:g.74385142_74385144del, NC_000013.10:g.74385143_74385144del, NC_000013.10:g.74385144del, NC_000013.10:g.74385144dup, NC_000013.10:g.74385143_74385144dup, NC_000013.10:g.74385142_74385144dup, NC_000013.10:g.74385141_74385144dup, NC_000013.10:g.74385140_74385144dup, NC_000013.10:g.74385139_74385144dup, NC_000013.10:g.74385138_74385144dup, NC_000013.10:g.74385137_74385144dup, NC_000013.10:g.74385136_74385144dup, NC_000013.10:g.74385135_74385144dup, NC_000013.10:g.74385134_74385144dup, NC_000013.10:g.74385133_74385144dup, NC_000013.10:g.74385132_74385144dup, NC_000013.10:g.74385131_74385144dup, NC_000013.10:g.74385129_74385144dup, NC_000013.10:g.74385128_74385144dup, NC_000013.10:g.74385127_74385144dup, NC_000013.10:g.74385126_74385144dup, NC_000013.10:g.74385125_74385144dup, NC_000013.10:g.74385123_74385144dup, NC_000013.10:g.74385144_74385145insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.74385144_74385145insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915524938.

rs1491552493 has merged into rs869166275 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 13:73738022 (GRCh38)
13:74312159 (GRCh37)
Canonical SPDI:: NC_000013.11:73738020:AAA:A,NC_000013.11:73738020:AAA:AA,NC_000013.11:73738020:AAA:AAAA
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.26564/3151 (ALFA)
-=0.02329/390 (TOMMO)
-=0.05853/107 (Korea1K)
-=0.29362/175 (NorthernSweden)
-=0.40843/37201 (GnomAD)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000013.11:g.73738022_73738023del, NC_000013.11:g.73738023del, NC_000013.11:g.73738023dup, NC_000013.10:g.74312159_74312160del, NC_000013.10:g.74312160del, NC_000013.10:g.74312160dup

Select item 14915488589.

rs1491548858 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:73831029 (GRCh38)
13:74405166 (GRCh37)
Canonical SPDI:: NC_000013.11:73831027:ATA:A
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0065/25 (ALSPAC)
-=0.0067/25 (TWINSUK)
HGVS:: NC_000013.11:g.73831029_73831030del, NC_000013.10:g.74405166_74405167del

Select item 149154863010.

rs1491548630 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 13:73735952 (GRCh38)
13:74310090 (GRCh37)
Canonical SPDI:: NC_000013.11:73735952:TT:TTCTT
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTC=0.00007/6 (GnomAD)
HGVS:: NC_000013.11:g.73735954_73735955insCTT, NC_000013.10:g.74310091_74310092insCTT

Select item 149153998911.

rs1491539989 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 13:74073017 (GRCh38)
13:74647154 (GRCh37)
Canonical SPDI:: NC_000013.11:74073014:GTGT:GT
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.74073015GT[1], NC_000013.10:g.74647152GT[1]

Select item 149153997112.

rs1491539971 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:73797769 (GRCh38)
13:74371906 (GRCh37)
Canonical SPDI:: NC_000013.11:73797768:CA:
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00126/15 (ALFA)
HGVS:: NC_000013.11:g.73797769_73797770del, NC_000013.10:g.74371906_74371907del

Select item 149153879313.

rs1491538793 [Homo sapiens]

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

Select item 149153253214.

rs1491532532 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 13:74089803 (GRCh38)
13:74663940 (GRCh37)
Canonical SPDI:: NC_000013.11:74089802:GA:
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00312/20 (1000Genomes)
HGVS:: NC_000013.11:g.74089803_74089804del, NC_000013.10:g.74663940_74663941del

Select item 149151973315.

rs1491519733 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACACACACACACACACAT,ACACACACACACACAT,ACACACACACACAT,ACACACACACAT,ACACACACAT,ACACACAT,ACACAT,ACAT,AT [Show Flanks]
Chromosome:: 13:73916246 (GRCh38)
13:74490384 (GRCh37)
Canonical SPDI:: NC_000013.11:73916246::ACACACACACACACACAT,NC_000013.11:73916246::ACACACACACACACAT,NC_000013.11:73916246::ACACACACACACAT,NC_000013.11:73916246::ACACACACACAT,NC_000013.11:73916246::ACACACACAT,NC_000013.11:73916246::ACACACAT,NC_000013.11:73916246::ACACAT,NC_000013.11:73916246::ACAT,NC_000013.11:73916246::AT
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACAT=0./0 (ALFA)
HGVS:: NC_000013.11:g.73916246_73916247insACACACACACACACACAT, NC_000013.11:g.73916246_73916247insACACACACACACACAT, NC_000013.11:g.73916246_73916247insACACACACACACAT, NC_000013.11:g.73916246_73916247insACACACACACAT, NC_000013.11:g.73916246_73916247insACACACACAT, NC_000013.11:g.73916246_73916247insACACACAT, NC_000013.11:g.73916246_73916247insACACAT, NC_000013.11:g.73916246_73916247insACAT, NC_000013.11:g.73916246_73916247insAT, NC_000013.10:g.74490383_74490384insACACACACACACACACAT, NC_000013.10:g.74490383_74490384insACACACACACACACAT, NC_000013.10:g.74490383_74490384insACACACACACACAT, NC_000013.10:g.74490383_74490384insACACACACACAT, NC_000013.10:g.74490383_74490384insACACACACAT, NC_000013.10:g.74490383_74490384insACACACAT, NC_000013.10:g.74490383_74490384insACACAT, NC_000013.10:g.74490383_74490384insACAT, NC_000013.10:g.74490383_74490384insAT

Select item 149151538516.

rs1491515385 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 13:73831026 (GRCh38)
13:74405163 (GRCh37)
Canonical SPDI:: NC_000013.11:73831024:CGC:C
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.002186/14 (1000Genomes)
-=0.003128/366 (GnomAD)
HGVS:: NC_000013.11:g.73831026_73831027del, NC_000013.10:g.74405163_74405164del

Select item 149150933417.

rs1491509334 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 13:74051341 (GRCh38)
13:74625478 (GRCh37)
Canonical SPDI:: NC_000013.11:74051339:AAA:A
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000013.11:g.74051341_74051342del, NC_000013.10:g.74625478_74625479del

Select item 149150369818.

rs1491503698 has merged into rs58954841 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 13:73969041 (GRCh38)
13:74543178 (GRCh37)
Canonical SPDI:: NC_000013.11:73969029:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:73969029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:73969029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:73969029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:73969029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:73969029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:73969029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:73969029:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: KLF12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.1819/911 (1000Genomes)
HGVS:: NC_000013.11:g.73969041_73969045del, NC_000013.11:g.73969042_73969045del, NC_000013.11:g.73969043_73969045del, NC_000013.11:g.73969044_73969045del, NC_000013.11:g.73969045del, NC_000013.11:g.73969045dup, NC_000013.11:g.73969044_73969045dup, NC_000013.11:g.73969042_73969045dup, NC_000013.10:g.74543178_74543182del, NC_000013.10:g.74543179_74543182del, NC_000013.10:g.74543180_74543182del, NC_000013.10:g.74543181_74543182del, NC_000013.10:g.74543182del, NC_000013.10:g.74543182dup, NC_000013.10:g.74543181_74543182dup, NC_000013.10:g.74543179_74543182dup

Select item 149149369219.

rs1491493692 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 13:73904956 (GRCh38)
13:74479093 (GRCh37)
Canonical SPDI:: NC_000013.11:73904955:GC:
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000013.11:g.73904956_73904957del, NC_000013.10:g.74479093_74479094del

Select item 149148230820.

rs1491482308 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:73702028 (GRCh38)
13:74276166 (GRCh37)
Canonical SPDI:: NC_000013.11:73702028::C
Gene:: KLF12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.00005/7 (GnomAD)
HGVS:: NC_000013.11:g.73702028_73702029insC, NC_000013.10:g.74276165_74276166insC

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