SNP Links for Gene (Select 140707) - SNP

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Select item 14915787211.

rs1491578721 [Homo sapiens]

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

Select item 14915627272.

rs1491562727 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:125010113 (GRCh38)
12:125494660 (GRCh37)
Canonical SPDI:: NC_000012.12:125010113::T
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.125010113_125010114insT, NC_000012.11:g.125494659_125494660insT

Select item 14915557613.

rs1491555761 has merged into rs60019848 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG [Show Flanks]
Chromosome:: 12:125009626 (GRCh38)
12:125494172 (GRCh37)
Canonical SPDI:: NC_000012.12:125009619:GGGGGGGGGG:GGGGGG,NC_000012.12:125009619:GGGGGGGGGG:GGGGGGG,NC_000012.12:125009619:GGGGGGGGGG:GGGGGGGG,NC_000012.12:125009619:GGGGGGGGGG:GGGGGGGGG,NC_000012.12:125009619:GGGGGGGGGG:GGGGGGGGGGG
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000012.12:g.125009626_125009629del, NC_000012.12:g.125009627_125009629del, NC_000012.12:g.125009628_125009629del, NC_000012.12:g.125009629del, NC_000012.12:g.125009629dup, NC_000012.11:g.125494172_125494175del, NC_000012.11:g.125494173_125494175del, NC_000012.11:g.125494174_125494175del, NC_000012.11:g.125494175del, NC_000012.11:g.125494175dup

Select item 14915491664.

rs1491549166 has merged into rs1173511111 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA,AAAA [Show Flanks]
Chromosome:: 12:125011726 (GRCh38)
12:125496272 (GRCh37)
Canonical SPDI:: NC_000012.12:125011725:AAAAAAAAAA:AAAAAAAAA,NC_000012.12:125011725:AAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:125011725:AAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:125011725:AAAAAAAAAA:AAAAAAAAAAAAA
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0.00135/24 (ALFA)
-=0.00273/5 (Korea1K)
-=0.005/3 (NorthernSweden)
HGVS:: NC_000012.12:g.125011735del, NC_000012.12:g.125011735dup, NC_000012.12:g.125011734_125011735dup, NC_000012.12:g.125011733_125011735dup, NC_000012.11:g.125496281del, NC_000012.11:g.125496281dup, NC_000012.11:g.125496280_125496281dup, NC_000012.11:g.125496279_125496281dup

Select item 14915441655.

rs1491544165 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:125048015 (GRCh38)
12:125532561 (GRCh37)
Canonical SPDI:: NC_000012.12:125048014:TA:
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.125048015_125048016del, NC_000012.11:g.125532561_125532562del

Select item 14915343826.

rs1491534382 has merged into rs71447030 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 12:125042492 (GRCh38)
12:125527038 (GRCh37)
Canonical SPDI:: NC_000012.12:125042479:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:125042479:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:125042479:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:125042479:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.14167/85 (NorthernSweden)
-=0.15/6 (GENOME_DK)
-=0.2488/1246 (1000Genomes)
HGVS:: NC_000012.12:g.125042492_125042493del, NC_000012.12:g.125042493del, NC_000012.12:g.125042493dup, NC_000012.12:g.125042492_125042493dup, NC_000012.11:g.125527038_125527039del, NC_000012.11:g.125527039del, NC_000012.11:g.125527039dup, NC_000012.11:g.125527038_125527039dup

Select item 14915248517.

rs1491524851 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 12:125000070 (GRCh38)
12:125484617 (GRCh37)
Canonical SPDI:: NC_000012.12:125000070::T,NC_000012.12:125000070::TT
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00051/6 (ALFA)
HGVS:: NC_000012.12:g.125000070_125000071insT, NC_000012.12:g.125000070_125000071insTT, NC_000012.11:g.125484616_125484617insT, NC_000012.11:g.125484616_125484617insTT

Select item 14915165058.

rs1491516505 has merged into rs149478337 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:125044464 (GRCh38)
12:125529010 (GRCh37)
Canonical SPDI:: NC_000012.12:125044450:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:125044450:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:125044450:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:125044450:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:125044450:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:125044450:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:125044450:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:125044450:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.125044464_125044467del, NC_000012.12:g.125044465_125044467del, NC_000012.12:g.125044466_125044467del, NC_000012.12:g.125044467del, NC_000012.12:g.125044467dup, NC_000012.12:g.125044466_125044467dup, NC_000012.12:g.125044465_125044467dup, NC_000012.12:g.125044460_125044467dup, NC_000012.11:g.125529010_125529013del, NC_000012.11:g.125529011_125529013del, NC_000012.11:g.125529012_125529013del, NC_000012.11:g.125529013del, NC_000012.11:g.125529013dup, NC_000012.11:g.125529012_125529013dup, NC_000012.11:g.125529011_125529013dup, NC_000012.11:g.125529006_125529013dup

Select item 14915079419.

rs1491507941 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGG,TGG [Show Flanks]
Chromosome:: 12:125009620 (GRCh38)
12:125494167 (GRCh37)
Canonical SPDI:: NC_000012.12:125009620:GG:GGCGG,NC_000012.12:125009620:GG:GGTGG
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGTGG=0./0 (ALFA)
HGVS:: NC_000012.12:g.125009622_125009623insCGG, NC_000012.12:g.125009622_125009623insTGG, NC_000012.11:g.125494168_125494169insCGG, NC_000012.11:g.125494168_125494169insTGG

Select item 149150574410.

rs1491505744 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 12:125024259 (GRCh38)
12:125508806 (GRCh37)
Canonical SPDI:: NC_000012.12:125024259:C:CGC
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
CG=0.00023/5 (GnomAD)
HGVS:: NC_000012.12:g.125024260_125024261insGC, NC_000012.11:g.125508806_125508807insGC

Select item 149149824611.

rs1491498246 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:125042480 (GRCh38)
12:125527027 (GRCh37)
Canonical SPDI:: NC_000012.12:125042480::A
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.125042480_125042481insA, NC_000012.11:g.125527026_125527027insA

Select item 149147517212.

rs1491475172 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:125000308 (GRCh38)
12:125484854 (GRCh37)
Canonical SPDI:: NC_000012.12:125000307:AT:
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000169/2 (ALFA)
-=0.000262/27 (GnomAD)
HGVS:: NC_000012.12:g.125000308_125000309del, NC_000012.11:g.125484854_125484855del

Select item 149145760713.

rs1491457607 has merged into rs1205730966 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:125019647 (GRCh38)
12:125504193 (GRCh37)
Canonical SPDI:: NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:125019635:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
T=0.000433/1 (TOMMO)
T=0.011976/4 (Korea1K)
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.051471/7 (NorthernSweden)
HGVS:: NC_000012.12:g.125019647_125019657del, NC_000012.12:g.125019648_125019657del, NC_000012.12:g.125019650_125019657del, NC_000012.12:g.125019653_125019657del, NC_000012.12:g.125019654_125019657del, NC_000012.12:g.125019655_125019657del, NC_000012.12:g.125019656_125019657del, NC_000012.12:g.125019657del, NC_000012.12:g.125019657dup, NC_000012.12:g.125019656_125019657dup, NC_000012.12:g.125019655_125019657dup, NC_000012.12:g.125019654_125019657dup, NC_000012.12:g.125019649_125019657dup, NC_000012.12:g.125019648_125019657dup, NC_000012.12:g.125019647_125019657dup, NC_000012.12:g.125019645_125019657dup, NC_000012.12:g.125019644_125019657dup, NC_000012.12:g.125019643_125019657dup, NC_000012.12:g.125019642_125019657dup, NC_000012.12:g.125019641_125019657dup, NC_000012.12:g.125019636_125019657dup, NC_000012.12:g.125019657_125019658insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.125019657_125019658insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.125504193_125504203del, NC_000012.11:g.125504194_125504203del, NC_000012.11:g.125504196_125504203del, NC_000012.11:g.125504199_125504203del, NC_000012.11:g.125504200_125504203del, NC_000012.11:g.125504201_125504203del, NC_000012.11:g.125504202_125504203del, NC_000012.11:g.125504203del, NC_000012.11:g.125504203dup, NC_000012.11:g.125504202_125504203dup, NC_000012.11:g.125504201_125504203dup, NC_000012.11:g.125504200_125504203dup, NC_000012.11:g.125504195_125504203dup, NC_000012.11:g.125504194_125504203dup, NC_000012.11:g.125504193_125504203dup, NC_000012.11:g.125504191_125504203dup, NC_000012.11:g.125504190_125504203dup, NC_000012.11:g.125504189_125504203dup, NC_000012.11:g.125504188_125504203dup, NC_000012.11:g.125504187_125504203dup, NC_000012.11:g.125504182_125504203dup, NC_000012.11:g.125504203_125504204insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.125504203_125504204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149144115814.

rs1491441158 has merged into rs67780786 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 12:125024265 (GRCh38)
12:125508811 (GRCh37)
Canonical SPDI:: NC_000012.12:125024258:CCCCCCCCCC:CCCCCC,NC_000012.12:125024258:CCCCCCCCCC:CCCCCCC,NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCC,NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCC,NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCC,NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCC,NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000012.12:125024258:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCC=0./0 (ALFA)
-=0.3538/1462 (Estonian)
CC=0.4399/2203 (1000Genomes)
HGVS:: NC_000012.12:g.125024265_125024268del, NC_000012.12:g.125024266_125024268del, NC_000012.12:g.125024267_125024268del, NC_000012.12:g.125024268del, NC_000012.12:g.125024268dup, NC_000012.12:g.125024267_125024268dup, NC_000012.12:g.125024266_125024268dup, NC_000012.12:g.125024265_125024268dup, NC_000012.12:g.125024264_125024268dup, NC_000012.12:g.125024263_125024268dup, NC_000012.12:g.125024262_125024268dup, NC_000012.12:g.125024261_125024268dup, NC_000012.12:g.125024260_125024268dup, NC_000012.12:g.125024259_125024268dup, NC_000012.12:g.125024268_125024269insCCCCCCCCCCCCC, NC_000012.11:g.125508811_125508814del, NC_000012.11:g.125508812_125508814del, NC_000012.11:g.125508813_125508814del, NC_000012.11:g.125508814del, NC_000012.11:g.125508814dup, NC_000012.11:g.125508813_125508814dup, NC_000012.11:g.125508812_125508814dup, NC_000012.11:g.125508811_125508814dup, NC_000012.11:g.125508810_125508814dup, NC_000012.11:g.125508809_125508814dup, NC_000012.11:g.125508808_125508814dup, NC_000012.11:g.125508807_125508814dup, NC_000012.11:g.125508806_125508814dup, NC_000012.11:g.125508805_125508814dup, NC_000012.11:g.125508814_125508815insCCCCCCCCCCCCC

Select item 149143568215.

rs1491435682 has merged into rs55938703 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 12:125016364 (GRCh38)
12:125500910 (GRCh37)
Canonical SPDI:: NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:125016355:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.4235/2121 (1000Genomes)
HGVS:: NC_000012.12:g.125016364_125016369del, NC_000012.12:g.125016368_125016369del, NC_000012.12:g.125016369del, NC_000012.12:g.125016369dup, NC_000012.12:g.125016368_125016369dup, NC_000012.12:g.125016367_125016369dup, NC_000012.12:g.125016366_125016369dup, NC_000012.11:g.125500910_125500915del, NC_000012.11:g.125500914_125500915del, NC_000012.11:g.125500915del, NC_000012.11:g.125500915dup, NC_000012.11:g.125500914_125500915dup, NC_000012.11:g.125500913_125500915dup, NC_000012.11:g.125500912_125500915dup

Select item 149141483516.

rs1491414835 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 12:125000070 (GRCh38)
12:125484616 (GRCh37)
Canonical SPDI:: NC_000012.12:125000069:GC:
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.125000070_125000071del, NC_000012.11:g.125484616_125484617del

Select item 149141113517.

rs1491411135 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACA [Show Flanks]
Chromosome:: 12:125003956 (GRCh38)
12:125488503 (GRCh37)
Canonical SPDI:: NC_000012.12:125003956:A:AAACA
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAACA=0./0 (ALFA)
HGVS:: NC_000012.12:g.125003957_125003958insAACA, NC_000012.11:g.125488503_125488504insAACA

Select item 149140016118.

rs1491400161 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 12:125036230 (GRCh38)
12:125520777 (GRCh37)
Canonical SPDI:: NC_000012.12:125036230::T,NC_000012.12:125036230::TT
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00011/2 (TOMMO)
TT=0.00055/1 (Korea1K)
HGVS:: NC_000012.12:g.125036230_125036231insT, NC_000012.12:g.125036230_125036231insTT, NC_000012.11:g.125520776_125520777insT, NC_000012.11:g.125520776_125520777insTT

Select item 149132158319.

rs1491321583 has merged into rs202194939 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 12:125003974 (GRCh38)
12:125488520 (GRCh37)
Canonical SPDI:: NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:125003956:ACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000012.12:g.125003958CA[8], NC_000012.12:g.125003958CA[9], NC_000012.12:g.125003958CA[10], NC_000012.12:g.125003958CA[11], NC_000012.12:g.125003958CA[12], NC_000012.12:g.125003958CA[13], NC_000012.12:g.125003958CA[14], NC_000012.12:g.125003958CA[15], NC_000012.12:g.125003958CA[16], NC_000012.12:g.125003958CA[17], NC_000012.12:g.125003958CA[18], NC_000012.12:g.125003958CA[19], NC_000012.12:g.125003958CA[20], NC_000012.12:g.125003958CA[21], NC_000012.12:g.125003958CA[22], NC_000012.12:g.125003958CA[24], NC_000012.12:g.125003958CA[25], NC_000012.12:g.125003958CA[26], NC_000012.12:g.125003958CA[27], NC_000012.12:g.125003958CA[28], NC_000012.11:g.125488504CA[8], NC_000012.11:g.125488504CA[9], NC_000012.11:g.125488504CA[10], NC_000012.11:g.125488504CA[11], NC_000012.11:g.125488504CA[12], NC_000012.11:g.125488504CA[13], NC_000012.11:g.125488504CA[14], NC_000012.11:g.125488504CA[15], NC_000012.11:g.125488504CA[16], NC_000012.11:g.125488504CA[17], NC_000012.11:g.125488504CA[18], NC_000012.11:g.125488504CA[19], NC_000012.11:g.125488504CA[20], NC_000012.11:g.125488504CA[21], NC_000012.11:g.125488504CA[22], NC_000012.11:g.125488504CA[24], NC_000012.11:g.125488504CA[25], NC_000012.11:g.125488504CA[26], NC_000012.11:g.125488504CA[27], NC_000012.11:g.125488504CA[28]

Select item 149129767720.

rs1491297677 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:125011725 (GRCh38)
12:125496271 (GRCh37)
Canonical SPDI:: NC_000012.12:125011724:TA:
Gene:: BRI3BP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.000106/2 (TOMMO)
HGVS:: NC_000012.12:g.125011725_125011726del, NC_000012.11:g.125496271_125496272del

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