SNP Links for Gene (Select 865) - SNP

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Select item 14915830991.

rs1491583099 has merged into rs71145959 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:67095222 (GRCh38)
16:67129125 (GRCh37)
Canonical SPDI:: NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67095210:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0039/2 (NorthernSweden)
HGVS:: NC_000016.10:g.67095222_67095236del, NC_000016.10:g.67095223_67095236del, NC_000016.10:g.67095224_67095236del, NC_000016.10:g.67095225_67095236del, NC_000016.10:g.67095226_67095236del, NC_000016.10:g.67095227_67095236del, NC_000016.10:g.67095228_67095236del, NC_000016.10:g.67095229_67095236del, NC_000016.10:g.67095230_67095236del, NC_000016.10:g.67095231_67095236del, NC_000016.10:g.67095232_67095236del, NC_000016.10:g.67095233_67095236del, NC_000016.10:g.67095234_67095236del, NC_000016.10:g.67095235_67095236del, NC_000016.10:g.67095236del, NC_000016.10:g.67095236dup, NC_000016.10:g.67095235_67095236dup, NC_000016.10:g.67095234_67095236dup, NC_000016.10:g.67095233_67095236dup, NC_000016.10:g.67095232_67095236dup, NC_000016.10:g.67095231_67095236dup, NC_000016.10:g.67095236_67095237insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.67129125_67129139del, NC_000016.9:g.67129126_67129139del, NC_000016.9:g.67129127_67129139del, NC_000016.9:g.67129128_67129139del, NC_000016.9:g.67129129_67129139del, NC_000016.9:g.67129130_67129139del, NC_000016.9:g.67129131_67129139del, NC_000016.9:g.67129132_67129139del, NC_000016.9:g.67129133_67129139del, NC_000016.9:g.67129134_67129139del, NC_000016.9:g.67129135_67129139del, NC_000016.9:g.67129136_67129139del, NC_000016.9:g.67129137_67129139del, NC_000016.9:g.67129138_67129139del, NC_000016.9:g.67129139del, NC_000016.9:g.67129139dup, NC_000016.9:g.67129138_67129139dup, NC_000016.9:g.67129137_67129139dup, NC_000016.9:g.67129136_67129139dup, NC_000016.9:g.67129135_67129139dup, NC_000016.9:g.67129134_67129139dup, NC_000016.9:g.67129139_67129140insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009281.1:g.71076_71090del, NG_009281.1:g.71077_71090del, NG_009281.1:g.71078_71090del, NG_009281.1:g.71079_71090del, NG_009281.1:g.71080_71090del, NG_009281.1:g.71081_71090del, NG_009281.1:g.71082_71090del, NG_009281.1:g.71083_71090del, NG_009281.1:g.71084_71090del, NG_009281.1:g.71085_71090del, NG_009281.1:g.71086_71090del, NG_009281.1:g.71087_71090del, NG_009281.1:g.71088_71090del, NG_009281.1:g.71089_71090del, NG_009281.1:g.71090del, NG_009281.1:g.71090dup, NG_009281.1:g.71089_71090dup, NG_009281.1:g.71088_71090dup, NG_009281.1:g.71087_71090dup, NG_009281.1:g.71086_71090dup, NG_009281.1:g.71085_71090dup, NG_009281.1:g.71090_71091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915514562.

rs1491551456 [Homo sapiens]

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

Select item 14915424373.

rs1491542437 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:67079515 (GRCh38)
16:67113418 (GRCh37)
Canonical SPDI:: NC_000016.10:67079513:TCT:T
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.67079515_67079516del, NC_000016.9:g.67113418_67113419del, NG_009281.1:g.55369_55370del

Select item 14915289864.

rs1491528986 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 16:67050297 (GRCh38)
16:67084201 (GRCh37)
Canonical SPDI:: NC_000016.10:67050297:ATATATATA:ATATATATATA
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATATATA=0./0 (ALFA)
AT=0.000015/2 (GnomAD)
HGVS:: NC_000016.10:g.67050299TA[5], NC_000016.9:g.67084202TA[5], NG_009281.1:g.26153TA[5]

Select item 14913591745.

rs1491359174 has merged into rs57425666 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 16:67075213 (GRCh38)
16:67109116 (GRCh37)
Canonical SPDI:: NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:67075197:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.1098/423 (ALSPAC)
TG=0.1157/429 (TWINSUK)
HGVS:: NC_000016.10:g.67075199GT[7], NC_000016.10:g.67075199GT[8], NC_000016.10:g.67075199GT[9], NC_000016.10:g.67075199GT[10], NC_000016.10:g.67075199GT[11], NC_000016.10:g.67075199GT[12], NC_000016.10:g.67075199GT[13], NC_000016.10:g.67075199GT[14], NC_000016.10:g.67075199GT[15], NC_000016.10:g.67075199GT[16], NC_000016.10:g.67075199GT[17], NC_000016.10:g.67075199GT[19], NC_000016.10:g.67075199GT[20], NC_000016.10:g.67075199GT[21], NC_000016.10:g.67075199GT[22], NC_000016.10:g.67075199GT[23], NC_000016.10:g.67075199GT[24], NC_000016.10:g.67075199GT[25], NC_000016.9:g.67109102GT[7], NC_000016.9:g.67109102GT[8], NC_000016.9:g.67109102GT[9], NC_000016.9:g.67109102GT[10], NC_000016.9:g.67109102GT[11], NC_000016.9:g.67109102GT[12], NC_000016.9:g.67109102GT[13], NC_000016.9:g.67109102GT[14], NC_000016.9:g.67109102GT[15], NC_000016.9:g.67109102GT[16], NC_000016.9:g.67109102GT[17], NC_000016.9:g.67109102GT[19], NC_000016.9:g.67109102GT[20], NC_000016.9:g.67109102GT[21], NC_000016.9:g.67109102GT[22], NC_000016.9:g.67109102GT[23], NC_000016.9:g.67109102GT[24], NC_000016.9:g.67109102GT[25], NG_009281.1:g.51053GT[7], NG_009281.1:g.51053GT[8], NG_009281.1:g.51053GT[9], NG_009281.1:g.51053GT[10], NG_009281.1:g.51053GT[11], NG_009281.1:g.51053GT[12], NG_009281.1:g.51053GT[13], NG_009281.1:g.51053GT[14], NG_009281.1:g.51053GT[15], NG_009281.1:g.51053GT[16], NG_009281.1:g.51053GT[17], NG_009281.1:g.51053GT[19], NG_009281.1:g.51053GT[20], NG_009281.1:g.51053GT[21], NG_009281.1:g.51053GT[22], NG_009281.1:g.51053GT[23], NG_009281.1:g.51053GT[24], NG_009281.1:g.51053GT[25]

Select item 14913453696.

rs1491345369 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:67079195 (GRCh38)
16:67113098 (GRCh37)
Canonical SPDI:: NC_000016.10:67079193:TAT:T
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67079195_67079196del, NC_000016.9:g.67113098_67113099del, NG_009281.1:g.55049_55050del

Select item 14913379497.

rs1491337949 has merged into rs1013359313 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 16:67081646 (GRCh38)
16:67115549 (GRCh37)
Canonical SPDI:: NC_000016.10:67081645:AAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:67081645:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.00054/9 (TOMMO)
-=0.00546/10 (Korea1K)
HGVS:: NC_000016.10:g.67081656del, NC_000016.10:g.67081656dup, NC_000016.9:g.67115559del, NC_000016.9:g.67115559dup, NG_009281.1:g.57510del, NG_009281.1:g.57510dup

Select item 14913231548.

rs1491323154 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 16:67096477 (GRCh38)
16:67130381 (GRCh37)
Canonical SPDI:: NC_000016.10:67096477:TGT:TGTGT
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
TG=0.0001/14 (GnomAD)
HGVS:: NC_000016.10:g.67096479_67096480dup, NC_000016.9:g.67130382_67130383dup, NG_009281.1:g.72333_72334dup

Select item 14913192069.

rs1491319206 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:67079194 (GRCh38)
16:67113098 (GRCh37)
Canonical SPDI:: NC_000016.10:67079194:A:AA
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.67079195dup, NC_000016.9:g.67113098dup, NG_009281.1:g.55049dup

Select item 149129580310.

rs1491295803 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 16:67079538 (GRCh38)
16:67113441 (GRCh37)
Canonical SPDI:: NC_000016.10:67079537:TG:
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.002023/24 (ALFA)
-=0.000806/108 (GnomAD)
HGVS:: NC_000016.10:g.67079538_67079539del, NC_000016.9:g.67113441_67113442del, NG_009281.1:g.55392_55393del

Select item 149129458611.

rs1491294586 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:67053249 (GRCh38)
16:67087153 (GRCh37)
Canonical SPDI:: NC_000016.10:67053249::C
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.67053249_67053250insC, NC_000016.9:g.67087152_67087153insC, NG_009281.1:g.29103_29104insC

Select item 149124225812.

rs1491242258 has merged into rs1306362885 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 16:67027526 (GRCh38)
16:67061429 (GRCh37)
Canonical SPDI:: NC_000016.10:67027525:CCCCCC:CCCCC,NC_000016.10:67027525:CCCCCC:CCCCCCC
Gene:: CBFB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.00006/1 (TOMMO)
-=0.000144/38 (TOPMED)
HGVS:: NC_000016.10:g.67027531del, NC_000016.10:g.67027531dup, NC_000016.9:g.67061434del, NC_000016.9:g.67061434dup, NG_009281.1:g.3385del, NG_009281.1:g.3385dup

Select item 149121502413.

rs1491215024 has merged into rs576629599 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:67053261 (GRCh38)
16:67087164 (GRCh37)
Canonical SPDI:: NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67053248:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.00879/44 (1000Genomes)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000016.10:g.67053261_67053269del, NC_000016.10:g.67053263_67053269del, NC_000016.10:g.67053264_67053269del, NC_000016.10:g.67053265_67053269del, NC_000016.10:g.67053266_67053269del, NC_000016.10:g.67053267_67053269del, NC_000016.10:g.67053268_67053269del, NC_000016.10:g.67053269del, NC_000016.10:g.67053269dup, NC_000016.10:g.67053268_67053269dup, NC_000016.10:g.67053267_67053269dup, NC_000016.10:g.67053266_67053269dup, NC_000016.10:g.67053265_67053269dup, NC_000016.10:g.67053263_67053269dup, NC_000016.10:g.67053262_67053269dup, NC_000016.10:g.67053261_67053269dup, NC_000016.10:g.67053259_67053269dup, NC_000016.9:g.67087164_67087172del, NC_000016.9:g.67087166_67087172del, NC_000016.9:g.67087167_67087172del, NC_000016.9:g.67087168_67087172del, NC_000016.9:g.67087169_67087172del, NC_000016.9:g.67087170_67087172del, NC_000016.9:g.67087171_67087172del, NC_000016.9:g.67087172del, NC_000016.9:g.67087172dup, NC_000016.9:g.67087171_67087172dup, NC_000016.9:g.67087170_67087172dup, NC_000016.9:g.67087169_67087172dup, NC_000016.9:g.67087168_67087172dup, NC_000016.9:g.67087166_67087172dup, NC_000016.9:g.67087165_67087172dup, NC_000016.9:g.67087164_67087172dup, NC_000016.9:g.67087162_67087172dup, NG_009281.1:g.29115_29123del, NG_009281.1:g.29117_29123del, NG_009281.1:g.29118_29123del, NG_009281.1:g.29119_29123del, NG_009281.1:g.29120_29123del, NG_009281.1:g.29121_29123del, NG_009281.1:g.29122_29123del, NG_009281.1:g.29123del, NG_009281.1:g.29123dup, NG_009281.1:g.29122_29123dup, NG_009281.1:g.29121_29123dup, NG_009281.1:g.29120_29123dup, NG_009281.1:g.29119_29123dup, NG_009281.1:g.29117_29123dup, NG_009281.1:g.29116_29123dup, NG_009281.1:g.29115_29123dup, NG_009281.1:g.29113_29123dup

Select item 149112646314.

rs1491126463 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 16:67051910 (GRCh38)
16:67085814 (GRCh37)
Canonical SPDI:: NC_000016.10:67051910:A:ACA
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AC=0.000017/2 (GnomAD)
HGVS:: NC_000016.10:g.67051911_67051912insCA, NC_000016.9:g.67085814_67085815insCA, NG_009281.1:g.27765_27766insCA

Select item 149111558615.

rs1491115586 [Homo sapiens]

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

Select item 149106559716.

rs1491065597 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTTT [Show Flanks]
Chromosome:: 16:67075233 (GRCh38)
16:67109137 (GRCh37)
Canonical SPDI:: NC_000016.10:67075233:T:TGTGTTT
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TGTGTT=0.000022/3 (GnomAD)
HGVS:: NC_000016.10:g.67075234TG[2]TTT[1], NC_000016.9:g.67109137TG[2]TTT[1], NG_009281.1:g.51088TG[2]TTT[1]

Select item 149105620717.

rs1491056207 [Homo sapiens]

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

Select item 149104635618.

rs1491046356 has merged into rs111876987 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 16:67053856 (GRCh38)
16:67087759 (GRCh37)
Canonical SPDI:: NC_000016.10:67053844:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:67053844:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:67053844:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:67053844:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:67053844:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.02167/13 (NorthernSweden)
T=0.125/1 (KOREAN)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000016.10:g.67053856_67053859del, NC_000016.10:g.67053858_67053859del, NC_000016.10:g.67053859del, NC_000016.10:g.67053859dup, NC_000016.10:g.67053858_67053859dup, NC_000016.9:g.67087759_67087762del, NC_000016.9:g.67087761_67087762del, NC_000016.9:g.67087762del, NC_000016.9:g.67087762dup, NC_000016.9:g.67087761_67087762dup, NG_009281.1:g.29710_29713del, NG_009281.1:g.29712_29713del, NG_009281.1:g.29713del, NG_009281.1:g.29713dup, NG_009281.1:g.29712_29713dup

Select item 149101142719.

rs1491011427 has merged into rs34164177 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:67079526 (GRCh38)
16:67113429 (GRCh37)
Canonical SPDI:: NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67079515:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.67079526_67079538del, NC_000016.10:g.67079527_67079538del, NC_000016.10:g.67079528_67079538del, NC_000016.10:g.67079529_67079538del, NC_000016.10:g.67079530_67079538del, NC_000016.10:g.67079531_67079538del, NC_000016.10:g.67079532_67079538del, NC_000016.10:g.67079533_67079538del, NC_000016.10:g.67079534_67079538del, NC_000016.10:g.67079535_67079538del, NC_000016.10:g.67079536_67079538del, NC_000016.10:g.67079537_67079538del, NC_000016.10:g.67079538del, NC_000016.10:g.67079538dup, NC_000016.10:g.67079537_67079538dup, NC_000016.10:g.67079536_67079538dup, NC_000016.10:g.67079535_67079538dup, NC_000016.10:g.67079534_67079538dup, NC_000016.10:g.67079530_67079538dup, NC_000016.10:g.67079528_67079538dup, NC_000016.10:g.67079523_67079538dup, NC_000016.10:g.67079522_67079538dup, NC_000016.10:g.67079521_67079538dup, NC_000016.10:g.67079520_67079538dup, NC_000016.10:g.67079519_67079538dup, NC_000016.10:g.67079538_67079539insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.67079538_67079539insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.67079538_67079539insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.67079538_67079539insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.67113429_67113441del, NC_000016.9:g.67113430_67113441del, NC_000016.9:g.67113431_67113441del, NC_000016.9:g.67113432_67113441del, NC_000016.9:g.67113433_67113441del, NC_000016.9:g.67113434_67113441del, NC_000016.9:g.67113435_67113441del, NC_000016.9:g.67113436_67113441del, NC_000016.9:g.67113437_67113441del, NC_000016.9:g.67113438_67113441del, NC_000016.9:g.67113439_67113441del, NC_000016.9:g.67113440_67113441del, NC_000016.9:g.67113441del, NC_000016.9:g.67113441dup, NC_000016.9:g.67113440_67113441dup, NC_000016.9:g.67113439_67113441dup, NC_000016.9:g.67113438_67113441dup, NC_000016.9:g.67113437_67113441dup, NC_000016.9:g.67113433_67113441dup, NC_000016.9:g.67113431_67113441dup, NC_000016.9:g.67113426_67113441dup, NC_000016.9:g.67113425_67113441dup, NC_000016.9:g.67113424_67113441dup, NC_000016.9:g.67113423_67113441dup, NC_000016.9:g.67113422_67113441dup, NC_000016.9:g.67113441_67113442insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.67113441_67113442insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.67113441_67113442insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.67113441_67113442insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009281.1:g.55380_55392del, NG_009281.1:g.55381_55392del, NG_009281.1:g.55382_55392del, NG_009281.1:g.55383_55392del, NG_009281.1:g.55384_55392del, NG_009281.1:g.55385_55392del, NG_009281.1:g.55386_55392del, NG_009281.1:g.55387_55392del, NG_009281.1:g.55388_55392del, NG_009281.1:g.55389_55392del, NG_009281.1:g.55390_55392del, NG_009281.1:g.55391_55392del, NG_009281.1:g.55392del, NG_009281.1:g.55392dup, NG_009281.1:g.55391_55392dup, NG_009281.1:g.55390_55392dup, NG_009281.1:g.55389_55392dup, NG_009281.1:g.55388_55392dup, NG_009281.1:g.55384_55392dup, NG_009281.1:g.55382_55392dup, NG_009281.1:g.55377_55392dup, NG_009281.1:g.55376_55392dup, NG_009281.1:g.55375_55392dup, NG_009281.1:g.55374_55392dup, NG_009281.1:g.55373_55392dup, NG_009281.1:g.55392_55393insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009281.1:g.55392_55393insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009281.1:g.55392_55393insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009281.1:g.55392_55393insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149099776820.

rs1490997768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67095188 (GRCh38)
16:67129091 (GRCh37)
Canonical SPDI:: NC_000016.10:67095187:C:T
Gene:: CBFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00022/1 (ALFA)
T=0.00001/1 (GnomAD)
T=0.00022/1 (Estonian)
HGVS:: NC_000016.10:g.67095188C>T, NC_000016.9:g.67129091C>T, NG_009281.1:g.71042C>T

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