SNP Links for Nucleotide (Select 1143558496) - SNP

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Select item 14915759491.

rs1491575949 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTGTGTG [Show Flanks]
Chromosome:: 11:68191174 (GRCh38)
11:67958642 (GRCh37)
Canonical SPDI:: NC_000011.10:68191174:GTGTGTG:GTGTGTGCGTGTGTG
Gene:: KMT5B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGTGCGTGTGTG=0.00008/1 (ALFA)
GTGTGTGC=0.00183/29 (GnomAD)
HGVS:: NC_000011.10:g.68191175_68191181GT[3]GCGTGTGTG[1], NC_000011.9:g.67958642_67958648GT[3]GCGTGTGTG[1], NG_052873.1:g.27592_27598CA[3]CGCACACAC[1]

Select item 14915592892.

rs1491559289 has merged into rs368207944 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:68209880 (GRCh38)
11:67977347 (GRCh37)
Canonical SPDI:: NC_000011.10:68209867:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:68209867:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:68209867:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:68209867:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:68209867:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:68209867:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:68209867:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KMT5B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.08108/48 (NorthernSweden)
HGVS:: NC_000011.10:g.68209880_68209882del, NC_000011.10:g.68209881_68209882del, NC_000011.10:g.68209882del, NC_000011.10:g.68209882dup, NC_000011.10:g.68209881_68209882dup, NC_000011.10:g.68209880_68209882dup, NC_000011.10:g.68209873_68209882dup, NC_000011.9:g.67977347_67977349del, NC_000011.9:g.67977348_67977349del, NC_000011.9:g.67977349del, NC_000011.9:g.67977349dup, NC_000011.9:g.67977348_67977349dup, NC_000011.9:g.67977347_67977349dup, NC_000011.9:g.67977340_67977349dup, NG_052873.1:g.8903_8905del, NG_052873.1:g.8904_8905del, NG_052873.1:g.8905del, NG_052873.1:g.8905dup, NG_052873.1:g.8904_8905dup, NG_052873.1:g.8903_8905dup, NG_052873.1:g.8896_8905dup

Select item 14914777733.

rs1491477773 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:68213734 (GRCh38)
11:67981201 (GRCh37)
Canonical SPDI:: NC_000011.10:68213733:AG:
Gene:: KMT5B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0./0 (Korea1K)
-=0.000007/1 (GnomAD)
-=0.000026/7 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.68213734_68213735del, NC_000011.9:g.67981201_67981202del, NG_052873.1:g.5038_5039del, NM_001300908.1:c.-1002_-1001del, NM_001300909.1:c.-335_-334del, NM_001363566.1:c.-335_-334del

Select item 14914715394.

rs1491471539 has merged into rs71461690 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:68181081 (GRCh38)
11:67948548 (GRCh37)
Canonical SPDI:: NC_000011.10:68181075:TTTTTTTTTTTTTTTT:TTTTT,NC_000011.10:68181075:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000011.10:68181075:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000011.10:68181075:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:68181075:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:68181075:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:68181075:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:68181075:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:68181075:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:68181075:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:68181075:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68181075:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: KMT5B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000011.10:g.68181081_68181091del, NC_000011.10:g.68181083_68181091del, NC_000011.10:g.68181084_68181091del, NC_000011.10:g.68181085_68181091del, NC_000011.10:g.68181088_68181091del, NC_000011.10:g.68181089_68181091del, NC_000011.10:g.68181090_68181091del, NC_000011.10:g.68181091del, NC_000011.10:g.68181091dup, NC_000011.10:g.68181090_68181091dup, NC_000011.10:g.68181086_68181091dup, NC_000011.10:g.68181085_68181091dup, NC_000011.9:g.67948548_67948558del, NC_000011.9:g.67948550_67948558del, NC_000011.9:g.67948551_67948558del, NC_000011.9:g.67948552_67948558del, NC_000011.9:g.67948555_67948558del, NC_000011.9:g.67948556_67948558del, NC_000011.9:g.67948557_67948558del, NC_000011.9:g.67948558del, NC_000011.9:g.67948558dup, NC_000011.9:g.67948557_67948558dup, NC_000011.9:g.67948553_67948558dup, NC_000011.9:g.67948552_67948558dup, NG_052873.1:g.37687_37697del, NG_052873.1:g.37689_37697del, NG_052873.1:g.37690_37697del, NG_052873.1:g.37691_37697del, NG_052873.1:g.37694_37697del, NG_052873.1:g.37695_37697del, NG_052873.1:g.37696_37697del, NG_052873.1:g.37697del, NG_052873.1:g.37697dup, NG_052873.1:g.37696_37697dup, NG_052873.1:g.37692_37697dup, NG_052873.1:g.37691_37697dup

Select item 14914218905.

rs1491421890 has merged into rs57542534 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCC,CCCCCCGGGGCCCCCCCCCCCCCC,CCCCGGGAAGGGGACCCCCCCCCCC [Show Flanks]
Chromosome:: 11:68214156 (GRCh38)
11:67981623 (GRCh37)
Canonical SPDI:: NC_000011.10:68214148:CCCCCCCCCC:CCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCCCCCCGGGGCCCCCCCCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCCCCGGGAAGGGGACCCCCCCCCCC
Gene:: KMT5B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
-=0.1939/971 (1000Genomes)
HGVS:: NC_000011.10:g.68214156_68214158del, NC_000011.10:g.68214157_68214158del, NC_000011.10:g.68214158del, NC_000011.10:g.68214158dup, NC_000011.10:g.68214157_68214158dup, NC_000011.10:g.68214156_68214158dup, NC_000011.10:g.68214155_68214158dup, NC_000011.10:g.68214153_68214158dup, NC_000011.10:g.68214149_68214158C[13]G[4]C[14], NC_000011.10:g.68214149_68214158C[11]GGGAAGGGGACCCCCCCCCCC[1], NC_000011.9:g.67981623_67981625del, NC_000011.9:g.67981624_67981625del, NC_000011.9:g.67981625del, NC_000011.9:g.67981625dup, NC_000011.9:g.67981624_67981625dup, NC_000011.9:g.67981623_67981625dup, NC_000011.9:g.67981622_67981625dup, NC_000011.9:g.67981620_67981625dup, NC_000011.9:g.67981616_67981625C[13]G[4]C[14], NC_000011.9:g.67981616_67981625C[11]GGGAAGGGGACCCCCCCCCCC[1], NG_052873.1:g.4622_4624del, NG_052873.1:g.4623_4624del, NG_052873.1:g.4624del, NG_052873.1:g.4624dup, NG_052873.1:g.4623_4624dup, NG_052873.1:g.4622_4624dup, NG_052873.1:g.4621_4624dup, NG_052873.1:g.4619_4624dup, NG_052873.1:g.4615_4624G[14]C[4]G[13], NG_052873.1:g.4615_4624G[11]TCCCCTTCCCGGGGGGGGGGG[1]

Select item 14913193426.

rs1491319342 has merged into rs71040602 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:68202556 (GRCh38)
11:67970023 (GRCh37)
Canonical SPDI:: NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68202546:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KMT5B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.68202556_68202566del, NC_000011.10:g.68202560_68202566del, NC_000011.10:g.68202561_68202566del, NC_000011.10:g.68202562_68202566del, NC_000011.10:g.68202563_68202566del, NC_000011.10:g.68202564_68202566del, NC_000011.10:g.68202565_68202566del, NC_000011.10:g.68202566del, NC_000011.10:g.68202566dup, NC_000011.10:g.68202565_68202566dup, NC_000011.10:g.68202564_68202566dup, NC_000011.10:g.68202563_68202566dup, NC_000011.10:g.68202562_68202566dup, NC_000011.10:g.68202561_68202566dup, NC_000011.10:g.68202559_68202566dup, NC_000011.9:g.67970023_67970033del, NC_000011.9:g.67970027_67970033del, NC_000011.9:g.67970028_67970033del, NC_000011.9:g.67970029_67970033del, NC_000011.9:g.67970030_67970033del, NC_000011.9:g.67970031_67970033del, NC_000011.9:g.67970032_67970033del, NC_000011.9:g.67970033del, NC_000011.9:g.67970033dup, NC_000011.9:g.67970032_67970033dup, NC_000011.9:g.67970031_67970033dup, NC_000011.9:g.67970030_67970033dup, NC_000011.9:g.67970029_67970033dup, NC_000011.9:g.67970028_67970033dup, NC_000011.9:g.67970026_67970033dup, NG_052873.1:g.16216_16226del, NG_052873.1:g.16220_16226del, NG_052873.1:g.16221_16226del, NG_052873.1:g.16222_16226del, NG_052873.1:g.16223_16226del, NG_052873.1:g.16224_16226del, NG_052873.1:g.16225_16226del, NG_052873.1:g.16226del, NG_052873.1:g.16226dup, NG_052873.1:g.16225_16226dup, NG_052873.1:g.16224_16226dup, NG_052873.1:g.16223_16226dup, NG_052873.1:g.16222_16226dup, NG_052873.1:g.16221_16226dup, NG_052873.1:g.16219_16226dup

Select item 14912949537.

rs1491294953 has merged into rs71040600 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 11:68191189 (GRCh38)
11:67958656 (GRCh37)
Canonical SPDI:: NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:68191173:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: KMT5B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.1554/778 (1000Genomes)
HGVS:: NC_000011.10:g.68191175GT[7], NC_000011.10:g.68191175GT[8], NC_000011.10:g.68191175GT[9], NC_000011.10:g.68191175GT[10], NC_000011.10:g.68191175GT[11], NC_000011.10:g.68191175GT[12], NC_000011.10:g.68191175GT[13], NC_000011.10:g.68191175GT[14], NC_000011.10:g.68191175GT[15], NC_000011.10:g.68191175GT[16], NC_000011.10:g.68191175GT[18], NC_000011.10:g.68191175GT[19], NC_000011.10:g.68191175GT[20], NC_000011.10:g.68191175GT[21], NC_000011.10:g.68191175GT[22], NC_000011.10:g.68191175GT[23], NC_000011.10:g.68191175GT[24], NC_000011.10:g.68191175GT[25], NC_000011.10:g.68191175GT[26], NC_000011.10:g.68191175GT[27], NC_000011.10:g.68191175GT[28], NC_000011.10:g.68191175GT[29], NC_000011.10:g.68191175GT[30], NC_000011.10:g.68191175GT[31], NC_000011.10:g.68191175GT[32], NC_000011.10:g.68191175GT[33], NC_000011.10:g.68191175GT[34], NC_000011.10:g.68191175GT[35], NC_000011.10:g.68191175GT[36], NC_000011.10:g.68191175GT[37], NC_000011.9:g.67958642GT[7], NC_000011.9:g.67958642GT[8], NC_000011.9:g.67958642GT[9], NC_000011.9:g.67958642GT[10], NC_000011.9:g.67958642GT[11], NC_000011.9:g.67958642GT[12], NC_000011.9:g.67958642GT[13], NC_000011.9:g.67958642GT[14], NC_000011.9:g.67958642GT[15], NC_000011.9:g.67958642GT[16], NC_000011.9:g.67958642GT[18], NC_000011.9:g.67958642GT[19], NC_000011.9:g.67958642GT[20], NC_000011.9:g.67958642GT[21], NC_000011.9:g.67958642GT[22], NC_000011.9:g.67958642GT[23], NC_000011.9:g.67958642GT[24], NC_000011.9:g.67958642GT[25], NC_000011.9:g.67958642GT[26], NC_000011.9:g.67958642GT[27], NC_000011.9:g.67958642GT[28], NC_000011.9:g.67958642GT[29], NC_000011.9:g.67958642GT[30], NC_000011.9:g.67958642GT[31], NC_000011.9:g.67958642GT[32], NC_000011.9:g.67958642GT[33], NC_000011.9:g.67958642GT[34], NC_000011.9:g.67958642GT[35], NC_000011.9:g.67958642GT[36], NC_000011.9:g.67958642GT[37], NG_052873.1:g.27566CA[7], NG_052873.1:g.27566CA[8], NG_052873.1:g.27566CA[9], NG_052873.1:g.27566CA[10], NG_052873.1:g.27566CA[11], NG_052873.1:g.27566CA[12], NG_052873.1:g.27566CA[13], NG_052873.1:g.27566CA[14], NG_052873.1:g.27566CA[15], NG_052873.1:g.27566CA[16], NG_052873.1:g.27566CA[18], NG_052873.1:g.27566CA[19], NG_052873.1:g.27566CA[20], NG_052873.1:g.27566CA[21], NG_052873.1:g.27566CA[22], NG_052873.1:g.27566CA[23], NG_052873.1:g.27566CA[24], NG_052873.1:g.27566CA[25], NG_052873.1:g.27566CA[26], NG_052873.1:g.27566CA[27], NG_052873.1:g.27566CA[28], NG_052873.1:g.27566CA[29], NG_052873.1:g.27566CA[30], NG_052873.1:g.27566CA[31], NG_052873.1:g.27566CA[32], NG_052873.1:g.27566CA[33], NG_052873.1:g.27566CA[34], NG_052873.1:g.27566CA[35], NG_052873.1:g.27566CA[36], NG_052873.1:g.27566CA[37]

Select item 14912081958.

rs1491208195 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 11:68214159 (GRCh38)
11:67981626 (GRCh37)
Canonical SPDI:: NC_000011.10:68214157:CTC:C
Gene:: KMT5B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.68214159_68214160del, NC_000011.9:g.67981626_67981627del, NG_052873.1:g.4614_4615del

Select item 14911632719.

rs1491163271 has merged into rs57542534 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCC,CCCCCCGGGGCCCCCCCCCCCCCC,CCCCGGGAAGGGGACCCCCCCCCCC [Show Flanks]
Chromosome:: 11:68214156 (GRCh38)
11:67981623 (GRCh37)
Canonical SPDI:: NC_000011.10:68214148:CCCCCCCCCC:CCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCCCCCCGGGGCCCCCCCCCCCCCC,NC_000011.10:68214148:CCCCCCCCCC:CCCCCCCCCCCGGGAAGGGGACCCCCCCCCCC
Gene:: KMT5B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
-=0.1939/971 (1000Genomes)
HGVS:: NC_000011.10:g.68214156_68214158del, NC_000011.10:g.68214157_68214158del, NC_000011.10:g.68214158del, NC_000011.10:g.68214158dup, NC_000011.10:g.68214157_68214158dup, NC_000011.10:g.68214156_68214158dup, NC_000011.10:g.68214155_68214158dup, NC_000011.10:g.68214153_68214158dup, NC_000011.10:g.68214149_68214158C[13]G[4]C[14], NC_000011.10:g.68214149_68214158C[11]GGGAAGGGGACCCCCCCCCCC[1], NC_000011.9:g.67981623_67981625del, NC_000011.9:g.67981624_67981625del, NC_000011.9:g.67981625del, NC_000011.9:g.67981625dup, NC_000011.9:g.67981624_67981625dup, NC_000011.9:g.67981623_67981625dup, NC_000011.9:g.67981622_67981625dup, NC_000011.9:g.67981620_67981625dup, NC_000011.9:g.67981616_67981625C[13]G[4]C[14], NC_000011.9:g.67981616_67981625C[11]GGGAAGGGGACCCCCCCCCCC[1], NG_052873.1:g.4622_4624del, NG_052873.1:g.4623_4624del, NG_052873.1:g.4624del, NG_052873.1:g.4624dup, NG_052873.1:g.4623_4624dup, NG_052873.1:g.4622_4624dup, NG_052873.1:g.4621_4624dup, NG_052873.1:g.4619_4624dup, NG_052873.1:g.4615_4624G[14]C[4]G[13], NG_052873.1:g.4615_4624G[11]TCCCCTTCCCGGGGGGGGGGG[1]

Select item 149105111410.

rs1491051114 has merged into rs536017271 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 11:68154518 (GRCh38)
11:67921985 (GRCh37)
Canonical SPDI:: NC_000011.10:68154517:AAAAAAA:AAAAAA,NC_000011.10:68154517:AAAAAAA:AAAAAAAA
Gene:: KMT5B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.002/2 (GoNL)
HGVS:: NC_000011.10:g.68154524del, NC_000011.10:g.68154524dup, NC_000011.9:g.67921991del, NC_000011.9:g.67921991dup, NG_052873.1:g.64255del, NG_052873.1:g.64255dup

Select item 149104143111.

rs1491041431 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:68194564 (GRCh38)
11:67962031 (GRCh37)
Canonical SPDI:: NC_000011.10:68194563:TA:
Gene:: KMT5B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.68194564_68194565del, NC_000011.9:g.67962031_67962032del, NG_052873.1:g.24208_24209del

Select item 149103361912.

rs1491033619 has merged into rs61314677 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 11:68205635 (GRCh38)
11:67973102 (GRCh37)
Canonical SPDI:: NC_000011.10:68205623:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:68205623:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:68205623:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:68205623:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:68205623:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:68205623:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:68205623:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: KMT5B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.06167/37 (NorthernSweden)
T=0.19883/3330 (TOMMO)
HGVS:: NC_000011.10:g.68205635_68205638del, NC_000011.10:g.68205636_68205638del, NC_000011.10:g.68205637_68205638del, NC_000011.10:g.68205638del, NC_000011.10:g.68205638dup, NC_000011.10:g.68205637_68205638dup, NC_000011.10:g.68205636_68205638dup, NC_000011.9:g.67973102_67973105del, NC_000011.9:g.67973103_67973105del, NC_000011.9:g.67973104_67973105del, NC_000011.9:g.67973105del, NC_000011.9:g.67973105dup, NC_000011.9:g.67973104_67973105dup, NC_000011.9:g.67973103_67973105dup, NG_052873.1:g.13146_13149del, NG_052873.1:g.13147_13149del, NG_052873.1:g.13148_13149del, NG_052873.1:g.13149del, NG_052873.1:g.13149dup, NG_052873.1:g.13148_13149dup, NG_052873.1:g.13147_13149dup

Select item 149102908113.

rs1491029081 has merged into rs34315868 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:68204623 (GRCh38)
11:67972090 (GRCh37)
Canonical SPDI:: NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68204611:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KMT5B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0903/452 (1000Genomes)
HGVS:: NC_000011.10:g.68204623_68204635del, NC_000011.10:g.68204624_68204635del, NC_000011.10:g.68204625_68204635del, NC_000011.10:g.68204626_68204635del, NC_000011.10:g.68204627_68204635del, NC_000011.10:g.68204628_68204635del, NC_000011.10:g.68204629_68204635del, NC_000011.10:g.68204630_68204635del, NC_000011.10:g.68204631_68204635del, NC_000011.10:g.68204632_68204635del, NC_000011.10:g.68204633_68204635del, NC_000011.10:g.68204634_68204635del, NC_000011.10:g.68204635del, NC_000011.10:g.68204635dup, NC_000011.10:g.68204634_68204635dup, NC_000011.10:g.68204633_68204635dup, NC_000011.10:g.68204632_68204635dup, NC_000011.10:g.68204631_68204635dup, NC_000011.10:g.68204630_68204635dup, NC_000011.10:g.68204629_68204635dup, NC_000011.10:g.68204628_68204635dup, NC_000011.10:g.68204627_68204635dup, NC_000011.10:g.68204626_68204635dup, NC_000011.10:g.68204624_68204635dup, NC_000011.10:g.68204623_68204635dup, NC_000011.10:g.68204622_68204635dup, NC_000011.10:g.68204618_68204635dup, NC_000011.10:g.68204635_68204636insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.68204635_68204636insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.68204635_68204636insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.68204635_68204636insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.68204635_68204636insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.68204635_68204636insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.67972090_67972102del, NC_000011.9:g.67972091_67972102del, NC_000011.9:g.67972092_67972102del, NC_000011.9:g.67972093_67972102del, NC_000011.9:g.67972094_67972102del, NC_000011.9:g.67972095_67972102del, NC_000011.9:g.67972096_67972102del, NC_000011.9:g.67972097_67972102del, NC_000011.9:g.67972098_67972102del, NC_000011.9:g.67972099_67972102del, NC_000011.9:g.67972100_67972102del, NC_000011.9:g.67972101_67972102del, NC_000011.9:g.67972102del, NC_000011.9:g.67972102dup, NC_000011.9:g.67972101_67972102dup, NC_000011.9:g.67972100_67972102dup, NC_000011.9:g.67972099_67972102dup, NC_000011.9:g.67972098_67972102dup, NC_000011.9:g.67972097_67972102dup, NC_000011.9:g.67972096_67972102dup, NC_000011.9:g.67972095_67972102dup, NC_000011.9:g.67972094_67972102dup, NC_000011.9:g.67972093_67972102dup, NC_000011.9:g.67972091_67972102dup, NC_000011.9:g.67972090_67972102dup, NC_000011.9:g.67972089_67972102dup, NC_000011.9:g.67972085_67972102dup, NC_000011.9:g.67972102_67972103insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.67972102_67972103insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.67972102_67972103insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.67972102_67972103insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.67972102_67972103insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.67972102_67972103insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052873.1:g.14149_14161del, NG_052873.1:g.14150_14161del, NG_052873.1:g.14151_14161del, NG_052873.1:g.14152_14161del, NG_052873.1:g.14153_14161del, NG_052873.1:g.14154_14161del, NG_052873.1:g.14155_14161del, NG_052873.1:g.14156_14161del, NG_052873.1:g.14157_14161del, NG_052873.1:g.14158_14161del, NG_052873.1:g.14159_14161del, NG_052873.1:g.14160_14161del, NG_052873.1:g.14161del, NG_052873.1:g.14161dup, NG_052873.1:g.14160_14161dup, NG_052873.1:g.14159_14161dup, NG_052873.1:g.14158_14161dup, NG_052873.1:g.14157_14161dup, NG_052873.1:g.14156_14161dup, NG_052873.1:g.14155_14161dup, NG_052873.1:g.14154_14161dup, NG_052873.1:g.14153_14161dup, NG_052873.1:g.14152_14161dup, NG_052873.1:g.14150_14161dup, NG_052873.1:g.14149_14161dup, NG_052873.1:g.14148_14161dup, NG_052873.1:g.14144_14161dup, NG_052873.1:g.14161_14162insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052873.1:g.14161_14162insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052873.1:g.14161_14162insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052873.1:g.14161_14162insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052873.1:g.14161_14162insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052873.1:g.14161_14162insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149097381514.

rs1490973815 [Homo sapiens]

Variant type:: DEL
Alleles:: CAG>- [Show Flanks]
Chromosome:: 11:68209532 (GRCh38)
11:67976999 (GRCh37)
Canonical SPDI:: NC_000011.10:68209531:CAG:
Gene:: KMT5B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.68209532_68209534del, NC_000011.9:g.67976999_67977001del, NG_052873.1:g.9239_9241del

Select item 149095881915.

rs1490958819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68207504 (GRCh38)
11:67974971 (GRCh37)
Canonical SPDI:: NC_000011.10:68207503:C:T
Gene:: KMT5B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.68207504C>T, NC_000011.9:g.67974971C>T, NG_052873.1:g.11269G>A

Select item 149092007816.

rs1490920078 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:68171608 (GRCh38)
11:67939075 (GRCh37)
Canonical SPDI:: NC_000011.10:68171607:A:C
Gene:: KMT5B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.68171608A>C, NC_000011.9:g.67939075A>C, NG_052873.1:g.47165T>G, NM_017635.5:c.755T>G, NM_017635.4:c.755T>G, NM_017635.3:c.755T>G, NM_016028.4:c.755T>G, NM_001300908.2:c.35T>G, NM_001300908.1:c.35T>G, NM_001300909.2:c.686T>G, NM_001300909.1:c.686T>G, NM_001363566.2:c.755T>G, NM_001363566.1:c.755T>G, NM_001369433.1:c.239T>G, NM_001369428.1:c.239T>G, NM_001369432.1:c.239T>G, NM_001369431.1:c.239T>G, NM_001300907.1:c.239T>G, NM_001369426.1:c.755T>G, NM_001369430.1:c.239T>G, NM_001369429.1:c.239T>G, NR_161380.1:n.1364T>G, NM_001369424.1:c.239T>G, NR_161378.1:n.1003T>G, NM_001369427.1:c.755T>G, NM_001369425.1:c.542T>G, XM_005274035.5:c.755T>G, XM_005274035.4:c.755T>G, XM_005274035.3:c.755T>G, XM_005274035.2:c.755T>G, XM_005274035.1:c.755T>G, XM_005274036.5:c.686T>G, XM_005274036.4:c.686T>G, XM_005274036.3:c.686T>G, XM_005274036.2:c.686T>G, XM_005274036.1:c.686T>G, XM_011545092.4:c.542T>G, XM_011545092.3:c.542T>G, XM_011545092.2:c.542T>G, XM_011545092.1:c.542T>G, XM_006718581.2:c.686T>G, XM_006718581.1:c.686T>G, XM_024448570.2:c.-533T>G, XM_024448570.1:c.-533T>G, XM_047427071.1:c.755T>G, XM_047427072.1:c.473T>G, NP_060105.3:p.Val252Gly, NP_057112.3:p.Val252Gly, NP_001287837.1:p.Val12Gly, NP_001287838.1:p.Val229Gly, NP_001350495.1:p.Val252Gly, NP_001356362.1:p.Val80Gly, NP_001356357.1:p.Val80Gly, NP_001356361.1:p.Val80Gly, NP_001356360.1:p.Val80Gly, NP_001287836.1:p.Val80Gly, NP_001356355.1:p.Val252Gly, NP_001356359.1:p.Val80Gly, NP_001356358.1:p.Val80Gly, NP_001356353.1:p.Val80Gly, NP_001356356.1:p.Val252Gly, NP_001356354.1:p.Val181Gly, XP_005274092.2:p.Val252Gly, XP_005274093.2:p.Val229Gly, XP_011543394.1:p.Val181Gly, XP_006718644.1:p.Val229Gly, XP_047283027.1:p.Val252Gly, XP_047283028.1:p.Val158Gly

Select item 149088075217.

rs1490880752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:68177157 (GRCh38)
11:67944624 (GRCh37)
Canonical SPDI:: NC_000011.10:68177156:A:G
Gene:: KMT5B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.68177157A>G, NC_000011.9:g.67944624A>G, NG_052873.1:g.41616T>C

Select item 149083138518.

rs1490831385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:68191603 (GRCh38)
11:67959070 (GRCh37)
Canonical SPDI:: NC_000011.10:68191602:G:C
Gene:: KMT5B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.68191603G>C, NC_000011.9:g.67959070G>C, NG_052873.1:g.27170C>G

Select item 149076709119.

rs1490767091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68154839 (GRCh38)
11:67922306 (GRCh37)
Canonical SPDI:: NC_000011.10:68154838:C:T
Gene:: KMT5B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.0007/3 (ALFA)
T=0.0009/4 (Estonian)
HGVS:: NC_000011.10:g.68154839C>T, NC_000011.9:g.67922306C>T, NG_052873.1:g.63934G>A

Select item 149075373320.

rs1490753733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:68213232 (GRCh38)
11:67980699 (GRCh37)
Canonical SPDI:: NC_000011.10:68213231:G:A,NC_000011.10:68213231:G:C
Gene:: KMT5B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD)
A=0.000036/1 (TOMMO)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.68213232G>A, NC_000011.10:g.68213232G>C, NC_000011.9:g.67980699G>A, NC_000011.9:g.67980699G>C, NG_052873.1:g.5541C>T, NG_052873.1:g.5541C>G, NM_017635.5:c.-171C>T, NM_017635.5:c.-171C>G, NM_017635.4:c.-171C>T, NM_017635.4:c.-171C>G, NM_017635.3:c.-171C>T, NM_017635.3:c.-171C>G, NM_016028.4:c.-171C>T, NM_016028.4:c.-171C>G, NM_001369433.1:c.-1349C>T, NM_001369433.1:c.-1349C>G, NM_001369431.1:c.-834C>T, NM_001369431.1:c.-834C>G, NM_001300907.1:c.-755C>T, NM_001300907.1:c.-755C>G, NM_001369426.1:c.-172C>T, NM_001369426.1:c.-172C>G, NM_001369429.1:c.-539C>T, NM_001369429.1:c.-539C>G, NM_001369424.1:c.-834C>T, NM_001369424.1:c.-834C>G, XM_006718581.2:c.-171C>T, XM_006718581.2:c.-171C>G, XM_006718581.1:c.-171C>T, XM_006718581.1:c.-171C>G

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