rs6144808 - SNP

Select item 61448081.

rs6144808 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTGCCAGATGTTCAAATT>- [Show Flanks]
Chromosome:: 12:91002752 (GRCh38)
12:91396529 (GRCh37)
Canonical SPDI:: NC_000012.12:91002748:ATTGCTGCCAGATGTTCAAATT:ATT
Gene:: EPYC (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATT=0.207874/3395 (ALFA)
-=0.002371/40 (TOMMO)
-=0.005459/10 (Korea1K)
-=0.033019/7 (Vietnamese)
-=0.104934/526 (1000Genomes)
-=0.161049/42628 (TOPMED)
-=0.176636/24728 (GnomAD)
-=0.241827/932 (ALSPAC)
-=0.245759/1101 (Estonian)
-=0.251888/934 (TWINSUK)
-=0.273333/164 (NorthernSweden)
HGVS:: NC_000012.12:g.91002752_91002770del, NC_000012.11:g.91396529_91396547del

Select item 13994817462.

rs1399481746 has merged into rs6144808 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTGCCAGATGTTCAAATT>- [Show Flanks]
Chromosome:: 12:91002752 (GRCh38)
12:91396529 (GRCh37)
Canonical SPDI:: NC_000012.12:91002748:ATTGCTGCCAGATGTTCAAATT:ATT
Gene:: EPYC (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATT=0.207874/3395 (ALFA)
-=0.002371/40 (TOMMO)
-=0.005459/10 (Korea1K)
-=0.033019/7 (Vietnamese)
-=0.104934/526 (1000Genomes)
-=0.161049/42628 (TOPMED)
-=0.176636/24728 (GnomAD)
-=0.241827/932 (ALSPAC)
-=0.245759/1101 (Estonian)
-=0.251888/934 (TWINSUK)
-=0.273333/164 (NorthernSweden)
HGVS:: NC_000012.12:g.91002752_91002770del, NC_000012.11:g.91396529_91396547del

Select item 1506721263.

rs150672126 has merged into rs6144808 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTGCCAGATGTTCAAATT>- [Show Flanks]
Chromosome:: 12:91002752 (GRCh38)
12:91396529 (GRCh37)
Canonical SPDI:: NC_000012.12:91002748:ATTGCTGCCAGATGTTCAAATT:ATT
Gene:: EPYC (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATT=0.207874/3395 (ALFA)
-=0.002371/40 (TOMMO)
-=0.005459/10 (Korea1K)
-=0.033019/7 (Vietnamese)
-=0.104934/526 (1000Genomes)
-=0.161049/42628 (TOPMED)
-=0.176636/24728 (GnomAD)
-=0.241827/932 (ALSPAC)
-=0.245759/1101 (Estonian)
-=0.251888/934 (TWINSUK)
-=0.273333/164 (NorthernSweden)
HGVS:: NC_000012.12:g.91002752_91002770del, NC_000012.11:g.91396529_91396547del

Select item 802280874.

rs80228087 has merged into rs6144808 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTGCCAGATGTTCAAATT>- [Show Flanks]
Chromosome:: 12:91002752 (GRCh38)
12:91396529 (GRCh37)
Canonical SPDI:: NC_000012.12:91002748:ATTGCTGCCAGATGTTCAAATT:ATT
Gene:: EPYC (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATT=0.207874/3395 (ALFA)
-=0.002371/40 (TOMMO)
-=0.005459/10 (Korea1K)
-=0.033019/7 (Vietnamese)
-=0.104934/526 (1000Genomes)
-=0.161049/42628 (TOPMED)
-=0.176636/24728 (GnomAD)
-=0.241827/932 (ALSPAC)
-=0.245759/1101 (Estonian)
-=0.251888/934 (TWINSUK)
-=0.273333/164 (NorthernSweden)
HGVS:: NC_000012.12:g.91002752_91002770del, NC_000012.11:g.91396529_91396547del

Select item 345018065.

rs34501806 has merged into rs6144808 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTGCCAGATGTTCAAATT>- [Show Flanks]
Chromosome:: 12:91002752 (GRCh38)
12:91396529 (GRCh37)
Canonical SPDI:: NC_000012.12:91002748:ATTGCTGCCAGATGTTCAAATT:ATT
Gene:: EPYC (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATT=0.207874/3395 (ALFA)
-=0.002371/40 (TOMMO)
-=0.005459/10 (Korea1K)
-=0.033019/7 (Vietnamese)
-=0.104934/526 (1000Genomes)
-=0.161049/42628 (TOPMED)
-=0.176636/24728 (GnomAD)
-=0.241827/932 (ALSPAC)
-=0.245759/1101 (Estonian)
-=0.251888/934 (TWINSUK)
-=0.273333/164 (NorthernSweden)
HGVS:: NC_000012.12:g.91002752_91002770del, NC_000012.11:g.91396529_91396547del

Select item 107055626.

rs10705562 has merged into rs6144808 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTGCCAGATGTTCAAATT>- [Show Flanks]
Chromosome:: 12:91002752 (GRCh38)
12:91396529 (GRCh37)
Canonical SPDI:: NC_000012.12:91002748:ATTGCTGCCAGATGTTCAAATT:ATT
Gene:: EPYC (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATT=0.207874/3395 (ALFA)
-=0.002371/40 (TOMMO)
-=0.005459/10 (Korea1K)
-=0.033019/7 (Vietnamese)
-=0.104934/526 (1000Genomes)
-=0.161049/42628 (TOPMED)
-=0.176636/24728 (GnomAD)
-=0.241827/932 (ALSPAC)
-=0.245759/1101 (Estonian)
-=0.251888/934 (TWINSUK)
-=0.273333/164 (NorthernSweden)
HGVS:: NC_000012.12:g.91002752_91002770del, NC_000012.11:g.91396529_91396547del

dbSNP