SNP Links for Gene (Select 339479) - SNP

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Select item 14915894021.

rs1491589402 has merged into rs34406812 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACAC>-,AC,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC [Show Flanks]
Chromosome:: 1:190445589 (GRCh38)
1:190414719 (GRCh37)
Canonical SPDI:: NC_000001.11:190445573:CACACACACACACACACACACAC:CACACACACACACAC,NC_000001.11:190445573:CACACACACACACACACACACAC:CACACACACACACACAC,NC_000001.11:190445573:CACACACACACACACACACACAC:CACACACACACACACACAC,NC_000001.11:190445573:CACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000001.11:190445573:CACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000001.11:190445573:CACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000001.11:190445573:CACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000001.11:190445573:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACAC=0./0 (ALFA)
CA=0.11721/587 (1000Genomes)
HGVS:: NC_000001.11:g.190445575AC[7], NC_000001.11:g.190445575AC[8], NC_000001.11:g.190445575AC[9], NC_000001.11:g.190445575AC[10], NC_000001.11:g.190445575AC[12], NC_000001.11:g.190445575AC[13], NC_000001.11:g.190445575AC[14], NC_000001.11:g.190445575AC[15], NC_000001.10:g.190414705AC[7], NC_000001.10:g.190414705AC[8], NC_000001.10:g.190414705AC[9], NC_000001.10:g.190414705AC[10], NC_000001.10:g.190414705AC[12], NC_000001.10:g.190414705AC[13], NC_000001.10:g.190414705AC[14], NC_000001.10:g.190414705AC[15]

Select item 14915883642.

rs1491588364 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 1:190352867 (GRCh38)
1:190321997 (GRCh37)
Canonical SPDI:: NC_000001.11:190352859:TGTGTGTGT:TGTGTGT,NC_000001.11:190352859:TGTGTGTGT:TGTGTGTGTGT
Gene:: BRINP3 (Varview), LOC105371658 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
TG=0.000071/1 (TOMMO)
-=0.000091/24 (TOPMED)
HGVS:: NC_000001.11:g.190352861GT[3], NC_000001.11:g.190352861GT[5], NC_000001.10:g.190321991GT[3], NC_000001.10:g.190321991GT[5]

Select item 14915734763.

rs1491573476 has merged into rs34512031 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 1:190156523 (GRCh38)
1:190125653 (GRCh37)
Canonical SPDI:: NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTT,NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:190156514:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.329/1524 (1000Genomes)
HGVS:: NC_000001.11:g.190156523_190156524del, NC_000001.11:g.190156524del, NC_000001.11:g.190156524dup, NC_000001.11:g.190156523_190156524dup, NC_000001.10:g.190125653_190125654del, NC_000001.10:g.190125654del, NC_000001.10:g.190125654dup, NC_000001.10:g.190125653_190125654dup

Select item 14915660624.

rs1491566062 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:190296242 (GRCh38)
1:190265373 (GRCh37)
Canonical SPDI:: NC_000001.11:190296242:C:CC
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.190296243dup, NC_000001.10:g.190265373dup

Select item 14915551485.

rs1491555148 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:190354772 (GRCh38)
1:190323903 (GRCh37)
Canonical SPDI:: NC_000001.11:190354772::G
Gene:: BRINP3 (Varview), LOC105371658 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.190354772_190354773insG, NC_000001.10:g.190323902_190323903insG

Select item 14915209376.

rs1491520937 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:190443405 (GRCh38)
1:190412536 (GRCh37)
Canonical SPDI:: NC_000001.11:190443405::G
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.003288/39 (ALFA)
G=0.004656/583 (GnomAD)
HGVS:: NC_000001.11:g.190443405_190443406insG, NC_000001.10:g.190412535_190412536insG

Select item 14915162077.

rs1491516207 has merged into rs1030190199 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:190177161 (GRCh38)
1:190146291 (GRCh37)
Canonical SPDI:: NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190177150:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.190177161_190177180del, NC_000001.11:g.190177163_190177180del, NC_000001.11:g.190177164_190177180del, NC_000001.11:g.190177165_190177180del, NC_000001.11:g.190177166_190177180del, NC_000001.11:g.190177167_190177180del, NC_000001.11:g.190177168_190177180del, NC_000001.11:g.190177169_190177180del, NC_000001.11:g.190177170_190177180del, NC_000001.11:g.190177171_190177180del, NC_000001.11:g.190177172_190177180del, NC_000001.11:g.190177173_190177180del, NC_000001.11:g.190177174_190177180del, NC_000001.11:g.190177175_190177180del, NC_000001.11:g.190177176_190177180del, NC_000001.11:g.190177178_190177180del, NC_000001.11:g.190177179_190177180del, NC_000001.11:g.190177180del, NC_000001.11:g.190177180dup, NC_000001.11:g.190177179_190177180dup, NC_000001.11:g.190177178_190177180dup, NC_000001.11:g.190177177_190177180dup, NC_000001.11:g.190177176_190177180dup, NC_000001.11:g.190177175_190177180dup, NC_000001.11:g.190177174_190177180dup, NC_000001.11:g.190177173_190177180dup, NC_000001.11:g.190177172_190177180dup, NC_000001.10:g.190146291_190146310del, NC_000001.10:g.190146293_190146310del, NC_000001.10:g.190146294_190146310del, NC_000001.10:g.190146295_190146310del, NC_000001.10:g.190146296_190146310del, NC_000001.10:g.190146297_190146310del, NC_000001.10:g.190146298_190146310del, NC_000001.10:g.190146299_190146310del, NC_000001.10:g.190146300_190146310del, NC_000001.10:g.190146301_190146310del, NC_000001.10:g.190146302_190146310del, NC_000001.10:g.190146303_190146310del, NC_000001.10:g.190146304_190146310del, NC_000001.10:g.190146305_190146310del, NC_000001.10:g.190146306_190146310del, NC_000001.10:g.190146308_190146310del, NC_000001.10:g.190146309_190146310del, NC_000001.10:g.190146310del, NC_000001.10:g.190146310dup, NC_000001.10:g.190146309_190146310dup, NC_000001.10:g.190146308_190146310dup, NC_000001.10:g.190146307_190146310dup, NC_000001.10:g.190146306_190146310dup, NC_000001.10:g.190146305_190146310dup, NC_000001.10:g.190146304_190146310dup, NC_000001.10:g.190146303_190146310dup, NC_000001.10:g.190146302_190146310dup

Select item 14914824268.

rs1491482426 has merged into rs35090212 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTCTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:190141564 (GRCh38)
1:190110694 (GRCh37)
Canonical SPDI:: NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTCTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190141555:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.4211/16 (GENOME_DK)
-=0.4694/2351 (1000Genomes)
HGVS:: NC_000001.11:g.190141564_190141579del, NC_000001.11:g.190141566_190141579del, NC_000001.11:g.190141567_190141579del, NC_000001.11:g.190141568_190141579del, NC_000001.11:g.190141569_190141579del, NC_000001.11:g.190141570_190141579del, NC_000001.11:g.190141571_190141579del, NC_000001.11:g.190141572_190141579del, NC_000001.11:g.190141573_190141579del, NC_000001.11:g.190141574_190141579del, NC_000001.11:g.190141575_190141579del, NC_000001.11:g.190141576_190141579del, NC_000001.11:g.190141577_190141579del, NC_000001.11:g.190141578_190141579del, NC_000001.11:g.190141579del, NC_000001.11:g.190141579dup, NC_000001.11:g.190141556_190141579T[25]CTTTT[2]T[9]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.190141578_190141579dup, NC_000001.11:g.190141577_190141579dup, NC_000001.11:g.190141556_190141579T[27]CTTTTTTTTTTTTTT[2]T[11], NC_000001.11:g.190141576_190141579dup, NC_000001.11:g.190141556_190141579T[28]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.190141575_190141579dup, NC_000001.11:g.190141574_190141579dup, NC_000001.11:g.190141573_190141579dup, NC_000001.11:g.190141572_190141579dup, NC_000001.11:g.190141556_190141579T[32]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.190141571_190141579dup, NC_000001.11:g.190141570_190141579dup, NC_000001.11:g.190141569_190141579dup, NC_000001.11:g.190141568_190141579dup, NC_000001.11:g.190141567_190141579dup, NC_000001.11:g.190141566_190141579dup, NC_000001.11:g.190141565_190141579dup, NC_000001.11:g.190141564_190141579dup, NC_000001.11:g.190141563_190141579dup, NC_000001.11:g.190141562_190141579dup, NC_000001.11:g.190141561_190141579dup, NC_000001.11:g.190141560_190141579dup, NC_000001.11:g.190141559_190141579dup, NC_000001.11:g.190141558_190141579dup, NC_000001.11:g.190141556_190141579T[46]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.190141579_190141580insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.190141579_190141580insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.190141579_190141580insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.190141579_190141580insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.190141579_190141580insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.190141579_190141580insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.190110694_190110709del, NC_000001.10:g.190110696_190110709del, NC_000001.10:g.190110697_190110709del, NC_000001.10:g.190110698_190110709del, NC_000001.10:g.190110699_190110709del, NC_000001.10:g.190110700_190110709del, NC_000001.10:g.190110701_190110709del, NC_000001.10:g.190110702_190110709del, NC_000001.10:g.190110703_190110709del, NC_000001.10:g.190110704_190110709del, NC_000001.10:g.190110705_190110709del, NC_000001.10:g.190110706_190110709del, NC_000001.10:g.190110707_190110709del, NC_000001.10:g.190110708_190110709del, NC_000001.10:g.190110709del, NC_000001.10:g.190110709dup, NC_000001.10:g.190110686_190110709T[25]CTTTT[2]T[9]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.190110708_190110709dup, NC_000001.10:g.190110707_190110709dup, NC_000001.10:g.190110686_190110709T[27]CTTTTTTTTTTTTTT[2]T[11], NC_000001.10:g.190110706_190110709dup, NC_000001.10:g.190110686_190110709T[28]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.190110705_190110709dup, NC_000001.10:g.190110704_190110709dup, NC_000001.10:g.190110703_190110709dup, NC_000001.10:g.190110702_190110709dup, NC_000001.10:g.190110686_190110709T[32]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.190110701_190110709dup, NC_000001.10:g.190110700_190110709dup, NC_000001.10:g.190110699_190110709dup, NC_000001.10:g.190110698_190110709dup, NC_000001.10:g.190110697_190110709dup, NC_000001.10:g.190110696_190110709dup, NC_000001.10:g.190110695_190110709dup, NC_000001.10:g.190110694_190110709dup, NC_000001.10:g.190110693_190110709dup, NC_000001.10:g.190110692_190110709dup, NC_000001.10:g.190110691_190110709dup, NC_000001.10:g.190110690_190110709dup, NC_000001.10:g.190110689_190110709dup, NC_000001.10:g.190110688_190110709dup, NC_000001.10:g.190110686_190110709T[46]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.190110709_190110710insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.190110709_190110710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.190110709_190110710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.190110709_190110710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.190110709_190110710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.190110709_190110710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914816999.

rs1491481699 has merged into rs560504461 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:190443414 (GRCh38)
1:190412544 (GRCh37)
Canonical SPDI:: NC_000001.11:190443404:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:190443404:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:190443404:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:190443404:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:190443404:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:190443404:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:190443404:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:190443404:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:190443404:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:190443404:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:190443404:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.1/4 (GENOME_DK)
HGVS:: NC_000001.11:g.190443414_190443418del, NC_000001.11:g.190443415_190443418del, NC_000001.11:g.190443416_190443418del, NC_000001.11:g.190443417_190443418del, NC_000001.11:g.190443418del, NC_000001.11:g.190443418dup, NC_000001.11:g.190443417_190443418dup, NC_000001.11:g.190443415_190443418dup, NC_000001.11:g.190443414_190443418dup, NC_000001.11:g.190443413_190443418dup, NC_000001.11:g.190443409_190443418dup, NC_000001.10:g.190412544_190412548del, NC_000001.10:g.190412545_190412548del, NC_000001.10:g.190412546_190412548del, NC_000001.10:g.190412547_190412548del, NC_000001.10:g.190412548del, NC_000001.10:g.190412548dup, NC_000001.10:g.190412547_190412548dup, NC_000001.10:g.190412545_190412548dup, NC_000001.10:g.190412544_190412548dup, NC_000001.10:g.190412543_190412548dup, NC_000001.10:g.190412539_190412548dup

Select item 149145978110.

rs1491459781 has merged into rs34766118 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 1:190114547 (GRCh38)
1:190083677 (GRCh37)
Canonical SPDI:: NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:190114526:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000001.11:g.190114527TG[10], NC_000001.11:g.190114527TG[11], NC_000001.11:g.190114527TG[12], NC_000001.11:g.190114527TG[13], NC_000001.11:g.190114527TG[14], NC_000001.11:g.190114527TG[15], NC_000001.11:g.190114527TG[16], NC_000001.11:g.190114527TG[17], NC_000001.11:g.190114527TG[19], NC_000001.11:g.190114527TG[20], NC_000001.11:g.190114527TG[21], NC_000001.11:g.190114527TG[22], NC_000001.11:g.190114527TG[23], NC_000001.11:g.190114527TG[24], NC_000001.11:g.190114527TG[25], NC_000001.11:g.190114527TG[26], NC_000001.11:g.190114527TG[27], NC_000001.10:g.190083657TG[10], NC_000001.10:g.190083657TG[11], NC_000001.10:g.190083657TG[12], NC_000001.10:g.190083657TG[13], NC_000001.10:g.190083657TG[14], NC_000001.10:g.190083657TG[15], NC_000001.10:g.190083657TG[16], NC_000001.10:g.190083657TG[17], NC_000001.10:g.190083657TG[19], NC_000001.10:g.190083657TG[20], NC_000001.10:g.190083657TG[21], NC_000001.10:g.190083657TG[22], NC_000001.10:g.190083657TG[23], NC_000001.10:g.190083657TG[24], NC_000001.10:g.190083657TG[25], NC_000001.10:g.190083657TG[26], NC_000001.10:g.190083657TG[27]

Select item 149145206911.

rs1491452069 has merged into rs76406699 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:190354785 (GRCh38)
1:190323915 (GRCh37)
Canonical SPDI:: NC_000001.11:190354771:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:190354771:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:190354771:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:190354771:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:190354771:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BRINP3 (Varview), LOC105371658 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTTTTTT=0.00167/1 (NorthernSweden)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000001.11:g.190354785_190354786del, NC_000001.11:g.190354786del, NC_000001.11:g.190354786dup, NC_000001.11:g.190354785_190354786dup, NC_000001.11:g.190354786_190354787insTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.190323915_190323916del, NC_000001.10:g.190323916del, NC_000001.10:g.190323916dup, NC_000001.10:g.190323915_190323916dup, NC_000001.10:g.190323916_190323917insTTTTTTTTTTTTTTTTTTTT

Select item 149144756112.

rs1491447561 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAAA [Show Flanks]
Chromosome:: 1:190380028 (GRCh38)
1:190349159 (GRCh37)
Canonical SPDI:: NC_000001.11:190380028:AAAAA:AAAAAGAAAAA
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAGAAAAA=0./0 (ALFA)
AAAAAG=0.00007/1 (TOMMO)
AAAAAG=0.00033/17 (GnomAD)
HGVS:: NC_000001.11:g.190380029_190380033A[5]GAAAAA[1], NC_000001.10:g.190349159_190349163A[5]GAAAAA[1]

Select item 149144268713.

rs1491442687 has merged into rs199554405 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 1:190447363 (GRCh38)
1:190416493 (GRCh37)
Canonical SPDI:: NC_000001.11:190447349:TATATATATATATATAT:TATATATATATAT,NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATAT,NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATAT,NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATATAT,NC_000001.11:190447349:TATATATATATATATAT:TATATATATATATATATATATAT
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATATAT=0./0 (ALFA)
TA=0.13714/613 (Estonian)
TA=0.14/84 (NorthernSweden)
TA=0.2/6 (GENOME_DK)
HGVS:: NC_000001.11:g.190447351AT[6], NC_000001.11:g.190447351AT[7], NC_000001.11:g.190447351AT[9], NC_000001.11:g.190447351AT[10], NC_000001.11:g.190447351AT[11], NC_000001.10:g.190416481AT[6], NC_000001.10:g.190416481AT[7], NC_000001.10:g.190416481AT[9], NC_000001.10:g.190416481AT[10], NC_000001.10:g.190416481AT[11]

Select item 149143845414.

rs1491438454 has merged into rs71123078 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:190240883 (GRCh38)
1:190210013 (GRCh37)
Canonical SPDI:: NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BRINP3 (Varview), LOC105371659 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.00006/16 (TOPMED)
HGVS:: NC_000001.11:g.190240883_190240900del, NC_000001.11:g.190240885_190240900del, NC_000001.11:g.190240886_190240900del, NC_000001.11:g.190240887_190240900del, NC_000001.11:g.190240888_190240900del, NC_000001.11:g.190240890_190240900del, NC_000001.11:g.190240891_190240900del, NC_000001.11:g.190240892_190240900del, NC_000001.11:g.190240893_190240900del, NC_000001.11:g.190240894_190240900del, NC_000001.11:g.190240895_190240900del, NC_000001.11:g.190240896_190240900del, NC_000001.11:g.190240897_190240900del, NC_000001.11:g.190240898_190240900del, NC_000001.11:g.190240899_190240900del, NC_000001.11:g.190240900del, NC_000001.11:g.190240900dup, NC_000001.11:g.190240899_190240900dup, NC_000001.11:g.190240898_190240900dup, NC_000001.11:g.190240897_190240900dup, NC_000001.11:g.190240896_190240900dup, NC_000001.11:g.190240895_190240900dup, NC_000001.11:g.190240894_190240900dup, NC_000001.10:g.190210013_190210030del, NC_000001.10:g.190210015_190210030del, NC_000001.10:g.190210016_190210030del, NC_000001.10:g.190210017_190210030del, NC_000001.10:g.190210018_190210030del, NC_000001.10:g.190210020_190210030del, NC_000001.10:g.190210021_190210030del, NC_000001.10:g.190210022_190210030del, NC_000001.10:g.190210023_190210030del, NC_000001.10:g.190210024_190210030del, NC_000001.10:g.190210025_190210030del, NC_000001.10:g.190210026_190210030del, NC_000001.10:g.190210027_190210030del, NC_000001.10:g.190210028_190210030del, NC_000001.10:g.190210029_190210030del, NC_000001.10:g.190210030del, NC_000001.10:g.190210030dup, NC_000001.10:g.190210029_190210030dup, NC_000001.10:g.190210028_190210030dup, NC_000001.10:g.190210027_190210030dup, NC_000001.10:g.190210026_190210030dup, NC_000001.10:g.190210025_190210030dup, NC_000001.10:g.190210024_190210030dup

Select item 149141069915.

rs1491410699 has merged into rs1553249812 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 1:190150266 (GRCh38)
1:190119396 (GRCh37)
Canonical SPDI:: NC_000001.11:190150264:TAT:T,NC_000001.11:190150264:TAT:TATAT
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.09932/1621 (ALFA)
-=0.025/1 (GENOME_DK)
-=0.033333/20 (NorthernSweden)
-=0.148603/17961 (GnomAD)
-=0.206222/3452 (TOMMO)
-=0.217851/1091 (1000Genomes)
HGVS:: NC_000001.11:g.190150266_190150267del, NC_000001.11:g.190150266_190150267dup, NC_000001.10:g.190119396_190119397del, NC_000001.10:g.190119396_190119397dup

Select item 149140905116.

rs1491409051 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCC [Show Flanks]
Chromosome:: 1:190276555 (GRCh38)
1:190245686 (GRCh37)
Canonical SPDI:: NC_000001.11:190276555:C:CTCC
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.190276556_190276557insTCC, NC_000001.10:g.190245686_190245687insTCC

Select item 149140386817.

rs1491403868 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:190277119 (GRCh38)
1:190246249 (GRCh37)
Canonical SPDI:: NC_000001.11:190277117:TTT:T
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.190277119_190277120del, NC_000001.10:g.190246249_190246250del

Select item 149139978518.

rs1491399785 has merged into rs66528376 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 1:190380032 (GRCh38)
1:190349162 (GRCh37)
Canonical SPDI:: NC_000001.11:190380027:AAAAAAAAAAA:AAAA,NC_000001.11:190380027:AAAAAAAAAAA:AAAAAA,NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAA,NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAA,NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.401667/241 (NorthernSweden)
-=0.444909/7455 (TOMMO)
-=0.445771/1718 (ALSPAC)
-=0.447598/820 (Korea1K)
-=0.453074/1680 (TWINSUK)
HGVS:: NC_000001.11:g.190380032_190380038del, NC_000001.11:g.190380034_190380038del, NC_000001.11:g.190380035_190380038del, NC_000001.11:g.190380037_190380038del, NC_000001.11:g.190380038del, NC_000001.11:g.190380038dup, NC_000001.10:g.190349162_190349168del, NC_000001.10:g.190349164_190349168del, NC_000001.10:g.190349165_190349168del, NC_000001.10:g.190349167_190349168del, NC_000001.10:g.190349168del, NC_000001.10:g.190349168dup

Select item 149139683519.

rs1491396835 has merged into rs1415373095 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCCC [Show Flanks]
Chromosome:: 1:190478729 (GRCh38)
1:190447859 (GRCh37)
Canonical SPDI:: NC_000001.11:190478727:CCC:C,NC_000001.11:190478727:CCC:CC,NC_000001.11:190478727:CCC:CCCCC
Gene:: BRINP3 (Varview), BRINP3-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.006004/11 (Korea1K)
-=0.00998/167 (TOMMO)
-=0.011233/1528 (GnomAD)
HGVS:: NC_000001.11:g.190478729_190478730del, NC_000001.11:g.190478730del, NC_000001.11:g.190478729_190478730dup, NC_000001.10:g.190447859_190447860del, NC_000001.10:g.190447860del, NC_000001.10:g.190447859_190447860dup

Select item 149138947120.

rs1491389471 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:190429610 (GRCh38)
1:190398740 (GRCh37)
Canonical SPDI:: NC_000001.11:190429607:TGTG:TG
Gene:: BRINP3 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.190429608TG[1], NC_000001.10:g.190398738TG[1]

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