SNP Links for Gene (Select 83852) - SNP

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Select item 14915532921.

rs1491553292 has merged into rs71078844 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:49442801 (GRCh38)
13:50016937 (GRCh37)
Canonical SPDI:: NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:49442787:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CAB39L (Varview), SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.028/140 (1000Genomes)
-=0.1214/468 (ALSPAC)
HGVS:: NC_000013.11:g.49442801_49442819del, NC_000013.11:g.49442802_49442819del, NC_000013.11:g.49442803_49442819del, NC_000013.11:g.49442804_49442819del, NC_000013.11:g.49442805_49442819del, NC_000013.11:g.49442806_49442819del, NC_000013.11:g.49442807_49442819del, NC_000013.11:g.49442808_49442819del, NC_000013.11:g.49442809_49442819del, NC_000013.11:g.49442810_49442819del, NC_000013.11:g.49442811_49442819del, NC_000013.11:g.49442812_49442819del, NC_000013.11:g.49442813_49442819del, NC_000013.11:g.49442814_49442819del, NC_000013.11:g.49442815_49442819del, NC_000013.11:g.49442816_49442819del, NC_000013.11:g.49442817_49442819del, NC_000013.11:g.49442818_49442819del, NC_000013.11:g.49442819del, NC_000013.11:g.49442819dup, NC_000013.11:g.49442818_49442819dup, NC_000013.11:g.49442817_49442819dup, NC_000013.11:g.49442816_49442819dup, NC_000013.11:g.49442815_49442819dup, NC_000013.11:g.49442814_49442819dup, NC_000013.11:g.49442813_49442819dup, NC_000013.11:g.49442812_49442819dup, NC_000013.11:g.49442811_49442819dup, NC_000013.11:g.49442810_49442819dup, NC_000013.11:g.49442809_49442819dup, NC_000013.11:g.49442808_49442819dup, NC_000013.11:g.49442807_49442819dup, NC_000013.11:g.49442806_49442819dup, NC_000013.11:g.49442805_49442819dup, NC_000013.11:g.49442804_49442819dup, NC_000013.11:g.49442803_49442819dup, NC_000013.11:g.49442802_49442819dup, NC_000013.11:g.49442801_49442819dup, NC_000013.11:g.49442800_49442819dup, NC_000013.11:g.49442799_49442819dup, NC_000013.11:g.49442798_49442819dup, NC_000013.11:g.49442797_49442819dup, NC_000013.11:g.49442793_49442819dup, NC_000013.11:g.49442789_49442819dup, NC_000013.11:g.49442819_49442820insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.49442819_49442820insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.49442819_49442820insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.49442819_49442820insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.50016937_50016955del, NC_000013.10:g.50016938_50016955del, NC_000013.10:g.50016939_50016955del, NC_000013.10:g.50016940_50016955del, NC_000013.10:g.50016941_50016955del, NC_000013.10:g.50016942_50016955del, NC_000013.10:g.50016943_50016955del, NC_000013.10:g.50016944_50016955del, NC_000013.10:g.50016945_50016955del, NC_000013.10:g.50016946_50016955del, NC_000013.10:g.50016947_50016955del, NC_000013.10:g.50016948_50016955del, NC_000013.10:g.50016949_50016955del, NC_000013.10:g.50016950_50016955del, NC_000013.10:g.50016951_50016955del, NC_000013.10:g.50016952_50016955del, NC_000013.10:g.50016953_50016955del, NC_000013.10:g.50016954_50016955del, NC_000013.10:g.50016955del, NC_000013.10:g.50016955dup, NC_000013.10:g.50016954_50016955dup, NC_000013.10:g.50016953_50016955dup, NC_000013.10:g.50016952_50016955dup, NC_000013.10:g.50016951_50016955dup, NC_000013.10:g.50016950_50016955dup, NC_000013.10:g.50016949_50016955dup, NC_000013.10:g.50016948_50016955dup, NC_000013.10:g.50016947_50016955dup, NC_000013.10:g.50016946_50016955dup, NC_000013.10:g.50016945_50016955dup, NC_000013.10:g.50016944_50016955dup, NC_000013.10:g.50016943_50016955dup, NC_000013.10:g.50016942_50016955dup, NC_000013.10:g.50016941_50016955dup, NC_000013.10:g.50016940_50016955dup, NC_000013.10:g.50016939_50016955dup, NC_000013.10:g.50016938_50016955dup, NC_000013.10:g.50016937_50016955dup, NC_000013.10:g.50016936_50016955dup, NC_000013.10:g.50016935_50016955dup, NC_000013.10:g.50016934_50016955dup, NC_000013.10:g.50016933_50016955dup, NC_000013.10:g.50016929_50016955dup, NC_000013.10:g.50016925_50016955dup, NC_000013.10:g.50016955_50016956insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.50016955_50016956insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.50016955_50016956insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.50016955_50016956insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915443192.

rs1491544319 has merged into rs67311703 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 13:49457401 (GRCh38)
13:50031537 (GRCh37)
Canonical SPDI:: NC_000013.11:49457399:AAA:A,NC_000013.11:49457399:AAA:AAAA
Gene:: SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000013.11:g.49457401_49457402del, NC_000013.11:g.49457402dup, NC_000013.10:g.50031537_50031538del, NC_000013.10:g.50031538dup

Select item 14915382593.

rs1491538259 has merged into rs3039228 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:49466823 (GRCh38)
13:50040959 (GRCh37)
Canonical SPDI:: NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49466811:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.49466823_49466831del, NC_000013.11:g.49466824_49466831del, NC_000013.11:g.49466825_49466831del, NC_000013.11:g.49466827_49466831del, NC_000013.11:g.49466828_49466831del, NC_000013.11:g.49466829_49466831del, NC_000013.11:g.49466830_49466831del, NC_000013.11:g.49466831del, NC_000013.11:g.49466831dup, NC_000013.11:g.49466830_49466831dup, NC_000013.11:g.49466829_49466831dup, NC_000013.11:g.49466828_49466831dup, NC_000013.11:g.49466827_49466831dup, NC_000013.11:g.49466826_49466831dup, NC_000013.11:g.49466825_49466831dup, NC_000013.11:g.49466824_49466831dup, NC_000013.11:g.49466823_49466831dup, NC_000013.11:g.49466818_49466831dup, NC_000013.10:g.50040959_50040967del, NC_000013.10:g.50040960_50040967del, NC_000013.10:g.50040961_50040967del, NC_000013.10:g.50040963_50040967del, NC_000013.10:g.50040964_50040967del, NC_000013.10:g.50040965_50040967del, NC_000013.10:g.50040966_50040967del, NC_000013.10:g.50040967del, NC_000013.10:g.50040967dup, NC_000013.10:g.50040966_50040967dup, NC_000013.10:g.50040965_50040967dup, NC_000013.10:g.50040964_50040967dup, NC_000013.10:g.50040963_50040967dup, NC_000013.10:g.50040962_50040967dup, NC_000013.10:g.50040961_50040967dup, NC_000013.10:g.50040960_50040967dup, NC_000013.10:g.50040959_50040967dup, NC_000013.10:g.50040954_50040967dup

Select item 14915052034.

rs1491505203 has merged into rs145924626 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:49495082 (GRCh38)
13:50069218 (GRCh37)
Canonical SPDI:: NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49495068:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PHF11 (Varview), SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TTT=0.3193/1599 (1000Genomes)
HGVS:: NC_000013.11:g.49495082_49495093del, NC_000013.11:g.49495083_49495093del, NC_000013.11:g.49495084_49495093del, NC_000013.11:g.49495085_49495093del, NC_000013.11:g.49495086_49495093del, NC_000013.11:g.49495087_49495093del, NC_000013.11:g.49495088_49495093del, NC_000013.11:g.49495089_49495093del, NC_000013.11:g.49495090_49495093del, NC_000013.11:g.49495091_49495093del, NC_000013.11:g.49495092_49495093del, NC_000013.11:g.49495093del, NC_000013.11:g.49495093dup, NC_000013.11:g.49495092_49495093dup, NC_000013.11:g.49495091_49495093dup, NC_000013.11:g.49495090_49495093dup, NC_000013.11:g.49495089_49495093dup, NC_000013.11:g.49495088_49495093dup, NC_000013.11:g.49495073_49495093dup, NC_000013.11:g.49495093_49495094insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.50069218_50069229del, NC_000013.10:g.50069219_50069229del, NC_000013.10:g.50069220_50069229del, NC_000013.10:g.50069221_50069229del, NC_000013.10:g.50069222_50069229del, NC_000013.10:g.50069223_50069229del, NC_000013.10:g.50069224_50069229del, NC_000013.10:g.50069225_50069229del, NC_000013.10:g.50069226_50069229del, NC_000013.10:g.50069227_50069229del, NC_000013.10:g.50069228_50069229del, NC_000013.10:g.50069229del, NC_000013.10:g.50069229dup, NC_000013.10:g.50069228_50069229dup, NC_000013.10:g.50069227_50069229dup, NC_000013.10:g.50069226_50069229dup, NC_000013.10:g.50069225_50069229dup, NC_000013.10:g.50069224_50069229dup, NC_000013.10:g.50069209_50069229dup, NC_000013.10:g.50069229_50069230insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915046465.

rs1491504646 has merged into rs35468680 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:49471941 (GRCh38)
13:50046077 (GRCh37)
Canonical SPDI:: NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49471934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.49471941_49471949del, NC_000013.11:g.49471942_49471949del, NC_000013.11:g.49471943_49471949del, NC_000013.11:g.49471944_49471949del, NC_000013.11:g.49471945_49471949del, NC_000013.11:g.49471946_49471949del, NC_000013.11:g.49471947_49471949del, NC_000013.11:g.49471948_49471949del, NC_000013.11:g.49471949del, NC_000013.11:g.49471949dup, NC_000013.11:g.49471948_49471949dup, NC_000013.11:g.49471947_49471949dup, NC_000013.11:g.49471946_49471949dup, NC_000013.11:g.49471945_49471949dup, NC_000013.11:g.49471944_49471949dup, NC_000013.11:g.49471943_49471949dup, NC_000013.10:g.50046077_50046085del, NC_000013.10:g.50046078_50046085del, NC_000013.10:g.50046079_50046085del, NC_000013.10:g.50046080_50046085del, NC_000013.10:g.50046081_50046085del, NC_000013.10:g.50046082_50046085del, NC_000013.10:g.50046083_50046085del, NC_000013.10:g.50046084_50046085del, NC_000013.10:g.50046085del, NC_000013.10:g.50046085dup, NC_000013.10:g.50046084_50046085dup, NC_000013.10:g.50046083_50046085dup, NC_000013.10:g.50046082_50046085dup, NC_000013.10:g.50046081_50046085dup, NC_000013.10:g.50046080_50046085dup, NC_000013.10:g.50046079_50046085dup

Select item 14914075696.

rs1491407569 has merged into rs530235148 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 13:49489917 (GRCh38)
13:50064053 (GRCh37)
Canonical SPDI:: NC_000013.11:49489907:CCCCCCCCCCC:CCCCCCCCC,NC_000013.11:49489907:CCCCCCCCCCC:CCCCCCCCCC,NC_000013.11:49489907:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000013.11:49489907:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000013.11:49489907:CCCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000013.11:g.49489917_49489918del, NC_000013.11:g.49489918del, NC_000013.11:g.49489918dup, NC_000013.11:g.49489917_49489918dup, NC_000013.11:g.49489916_49489918dup, NC_000013.10:g.50064053_50064054del, NC_000013.10:g.50064054del, NC_000013.10:g.50064054dup, NC_000013.10:g.50064053_50064054dup, NC_000013.10:g.50064052_50064054dup

Select item 14913596517.

rs1491359651 [Homo sapiens]

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

Select item 14913589628.

rs1491358962 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCCCT,CCCT,CCT,CT,CTT,GCT [Show Flanks]
Chromosome:: 13:49489918 (GRCh38)
13:50064055 (GRCh37)
Canonical SPDI:: NC_000013.11:49489918::CCCCT,NC_000013.11:49489918::CCCT,NC_000013.11:49489918::CCT,NC_000013.11:49489918::CT,NC_000013.11:49489918::CTT,NC_000013.11:49489918::GCT
Gene:: SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCT=0./0 (ALFA)
HGVS:: NC_000013.11:g.49489918_49489919insCCCCT, NC_000013.11:g.49489918_49489919insCCCT, NC_000013.11:g.49489918_49489919insCCT, NC_000013.11:g.49489918_49489919insCT, NC_000013.11:g.49489918_49489919insCTT, NC_000013.11:g.49489918_49489919insGCT, NC_000013.10:g.50064054_50064055insCCCCT, NC_000013.10:g.50064054_50064055insCCCT, NC_000013.10:g.50064054_50064055insCCT, NC_000013.10:g.50064054_50064055insCT, NC_000013.10:g.50064054_50064055insCTT, NC_000013.10:g.50064054_50064055insGCT

Select item 14913496569.

rs1491349656 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:49495068 (GRCh38)
13:50069204 (GRCh37)
Canonical SPDI:: NC_000013.11:49495067:AT:
Gene:: PHF11 (Varview), SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.49495068_49495069del, NC_000013.10:g.50069204_50069205del

Select item 149133063310.

rs1491330633 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,GC [Show Flanks]
Chromosome:: 13:49489908 (GRCh38)
13:50064045 (GRCh37)
Canonical SPDI:: NC_000013.11:49489908:C:CAC,NC_000013.11:49489908:C:CGC
Gene:: SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
HGVS:: NC_000013.11:g.49489909_49489910insAC, NC_000013.11:g.49489909_49489910insGC, NC_000013.10:g.50064045_50064046insAC, NC_000013.10:g.50064045_50064046insGC

Select item 149126013611.

rs1491260136 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 13:49492968 (GRCh38)
13:50067104 (GRCh37)
Canonical SPDI:: NC_000013.11:49492967:GC:
Gene:: SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000015/1 (GnomAD)
HGVS:: NC_000013.11:g.49492968_49492969del, NC_000013.10:g.50067104_50067105del, NM_031915.3:c.*1119_*1120del, NM_031915.2:c.*1119_*1120del, NM_001160308.3:c.*1119_*1120del, NM_001160308.2:c.*1119_*1120del, NM_001160308.1:c.*1119_*1120del, NM_001320699.2:c.*1119_*1120del, NM_001320699.1:c.*1119_*1120del, NR_172062.1:n.4334_4335del, NM_001393975.1:c.*1119_*1120del, NM_001393976.1:c.*1119_*1120del, NM_001393978.1:c.*1119_*1120del

Select item 149124971212.

rs1491249712 has merged into rs55920370 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:49470979 (GRCh38)
13:50045115 (GRCh37)
Canonical SPDI:: NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:49470966:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.06795/1767 (TOMMO)
HGVS:: NC_000013.11:g.49470979_49470984del, NC_000013.11:g.49470980_49470984del, NC_000013.11:g.49470981_49470984del, NC_000013.11:g.49470982_49470984del, NC_000013.11:g.49470983_49470984del, NC_000013.11:g.49470984del, NC_000013.11:g.49470984dup, NC_000013.11:g.49470983_49470984dup, NC_000013.11:g.49470982_49470984dup, NC_000013.11:g.49470981_49470984dup, NC_000013.11:g.49470980_49470984dup, NC_000013.11:g.49470979_49470984dup, NC_000013.11:g.49470978_49470984dup, NC_000013.11:g.49470977_49470984dup, NC_000013.11:g.49470976_49470984dup, NC_000013.11:g.49470975_49470984dup, NC_000013.11:g.49470972_49470984dup, NC_000013.10:g.50045115_50045120del, NC_000013.10:g.50045116_50045120del, NC_000013.10:g.50045117_50045120del, NC_000013.10:g.50045118_50045120del, NC_000013.10:g.50045119_50045120del, NC_000013.10:g.50045120del, NC_000013.10:g.50045120dup, NC_000013.10:g.50045119_50045120dup, NC_000013.10:g.50045118_50045120dup, NC_000013.10:g.50045117_50045120dup, NC_000013.10:g.50045116_50045120dup, NC_000013.10:g.50045115_50045120dup, NC_000013.10:g.50045114_50045120dup, NC_000013.10:g.50045113_50045120dup, NC_000013.10:g.50045112_50045120dup, NC_000013.10:g.50045111_50045120dup, NC_000013.10:g.50045108_50045120dup

Select item 149119899813.

rs1491198998 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAA [Show Flanks]
Chromosome:: 13:49442788 (GRCh38)
13:50016925 (GRCh37)
Canonical SPDI:: NC_000013.11:49442788:AAAA:AAAACAAAA
Gene:: CAB39L (Varview), SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAACAAAA=0./0 (ALFA)
HGVS:: NC_000013.11:g.49442789_49442792A[4]CAAAA[1], NC_000013.10:g.50016925_50016928A[4]CAAAA[1]

Select item 149115030914.

rs1491150309 has merged into rs3039233 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACAC>-,AC,ACAC,ACACAC,ACACACACAC,ACACACACACAC [Show Flanks]
Chromosome:: 13:49492978 (GRCh38)
13:50067114 (GRCh37)
Canonical SPDI:: NC_000013.11:49492968:CACACACACACACACAC:CACACACAC,NC_000013.11:49492968:CACACACACACACACAC:CACACACACAC,NC_000013.11:49492968:CACACACACACACACAC:CACACACACACAC,NC_000013.11:49492968:CACACACACACACACAC:CACACACACACACAC,NC_000013.11:49492968:CACACACACACACACAC:CACACACACACACACACAC,NC_000013.11:49492968:CACACACACACACACAC:CACACACACACACACACACAC
Gene:: SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACAC=0./0 (ALFA)
-=0.007265/28 (ALSPAC)
CA=0.208333/125 (NorthernSweden)
CA=0.242966/1088 (Estonian)
CA=0.286649/75873 (TOPMED)
CA=0.289537/1450 (1000Genomes)
HGVS:: NC_000013.11:g.49492970AC[4], NC_000013.11:g.49492970AC[5], NC_000013.11:g.49492970AC[6], NC_000013.11:g.49492970AC[7], NC_000013.11:g.49492970AC[9], NC_000013.11:g.49492970AC[10], NC_000013.10:g.50067106AC[4], NC_000013.10:g.50067106AC[5], NC_000013.10:g.50067106AC[6], NC_000013.10:g.50067106AC[7], NC_000013.10:g.50067106AC[9], NC_000013.10:g.50067106AC[10], NM_031915.3:c.*1121AC[4], NM_031915.3:c.*1121AC[5], NM_031915.3:c.*1121AC[6], NM_031915.3:c.*1121AC[7], NM_031915.3:c.*1121AC[9], NM_031915.3:c.*1121AC[10], NM_031915.2:c.*1121AC[4], NM_031915.2:c.*1121AC[5], NM_031915.2:c.*1121AC[6], NM_031915.2:c.*1121AC[7], NM_031915.2:c.*1121AC[9], NM_031915.2:c.*1121AC[10], NM_001160308.3:c.*1121AC[4], NM_001160308.3:c.*1121AC[5], NM_001160308.3:c.*1121AC[6], NM_001160308.3:c.*1121AC[7], NM_001160308.3:c.*1121AC[9], NM_001160308.3:c.*1121AC[10], NM_001160308.2:c.*1121AC[4], NM_001160308.2:c.*1121AC[5], NM_001160308.2:c.*1121AC[6], NM_001160308.2:c.*1121AC[7], NM_001160308.2:c.*1121AC[9], NM_001160308.2:c.*1121AC[10], NM_001160308.1:c.*1121AC[4], NM_001160308.1:c.*1121AC[5], NM_001160308.1:c.*1121AC[6], NM_001160308.1:c.*1121AC[7], NM_001160308.1:c.*1121AC[9], NM_001160308.1:c.*1121AC[10], NM_001320699.2:c.*1121AC[4], NM_001320699.2:c.*1121AC[5], NM_001320699.2:c.*1121AC[6], NM_001320699.2:c.*1121AC[7], NM_001320699.2:c.*1121AC[9], NM_001320699.2:c.*1121AC[10], NM_001320699.1:c.*1121AC[4], NM_001320699.1:c.*1121AC[5], NM_001320699.1:c.*1121AC[6], NM_001320699.1:c.*1121AC[7], NM_001320699.1:c.*1121AC[9], NM_001320699.1:c.*1121AC[10], NR_172062.1:n.4336AC[4], NR_172062.1:n.4336AC[5], NR_172062.1:n.4336AC[6], NR_172062.1:n.4336AC[7], NR_172062.1:n.4336AC[9], NR_172062.1:n.4336AC[10], NM_001393975.1:c.*1121AC[4], NM_001393975.1:c.*1121AC[5], NM_001393975.1:c.*1121AC[6], NM_001393975.1:c.*1121AC[7], NM_001393975.1:c.*1121AC[9], NM_001393975.1:c.*1121AC[10], NM_001393976.1:c.*1121AC[4], NM_001393976.1:c.*1121AC[5], NM_001393976.1:c.*1121AC[6], NM_001393976.1:c.*1121AC[7], NM_001393976.1:c.*1121AC[9], NM_001393976.1:c.*1121AC[10], NM_001393978.1:c.*1121AC[4], NM_001393978.1:c.*1121AC[5], NM_001393978.1:c.*1121AC[6], NM_001393978.1:c.*1121AC[7], NM_001393978.1:c.*1121AC[9], NM_001393978.1:c.*1121AC[10]

Select item 149109592315.

rs1491095923 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:49442787 (GRCh38)
13:50016923 (GRCh37)
Canonical SPDI:: NC_000013.11:49442786:CA:
Gene:: CAB39L (Varview), SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000013.11:g.49442787_49442788del, NC_000013.10:g.50016923_50016924del

Select item 149107944716.

rs1491079447 has merged into rs111822460 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 13:49493061 (GRCh38)
13:50067197 (GRCh37)
Canonical SPDI:: NC_000013.11:49493052:TTTTTTTTTT:TTTTTTTT,NC_000013.11:49493052:TTTTTTTTTT:TTTTTTTTT,NC_000013.11:49493052:TTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:49493052:TTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:49493052:TTTTTTTTTT:TTTTTTTTTTTTT
Gene:: SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.075/3 (GENOME_DK)
T=0.10664/411 (ALSPAC)
T=0.10976/407 (TWINSUK)
T=0.12833/77 (NorthernSweden)
T=0.13953/624 (Estonian)
T=0.16214/812 (1000Genomes)
T=0.16905/2833 (TOMMO)
HGVS:: NC_000013.11:g.49493061_49493062del, NC_000013.11:g.49493062del, NC_000013.11:g.49493062dup, NC_000013.11:g.49493061_49493062dup, NC_000013.11:g.49493060_49493062dup, NC_000013.10:g.50067197_50067198del, NC_000013.10:g.50067198del, NC_000013.10:g.50067198dup, NC_000013.10:g.50067197_50067198dup, NC_000013.10:g.50067196_50067198dup, NM_031915.3:c.*1212_*1213del, NM_031915.3:c.*1213del, NM_031915.3:c.*1213dup, NM_031915.3:c.*1212_*1213dup, NM_031915.3:c.*1211_*1213dup, NM_031915.2:c.*1212_*1213del, NM_031915.2:c.*1213del, NM_031915.2:c.*1213dup, NM_031915.2:c.*1212_*1213dup, NM_031915.2:c.*1211_*1213dup, NM_001160308.3:c.*1212_*1213del, NM_001160308.3:c.*1213del, NM_001160308.3:c.*1213dup, NM_001160308.3:c.*1212_*1213dup, NM_001160308.3:c.*1211_*1213dup, NM_001160308.2:c.*1212_*1213del, NM_001160308.2:c.*1213del, NM_001160308.2:c.*1213dup, NM_001160308.2:c.*1212_*1213dup, NM_001160308.2:c.*1211_*1213dup, NM_001160308.1:c.*1212_*1213del, NM_001160308.1:c.*1213del, NM_001160308.1:c.*1213dup, NM_001160308.1:c.*1212_*1213dup, NM_001160308.1:c.*1211_*1213dup, NM_001320699.2:c.*1212_*1213del, NM_001320699.2:c.*1213del, NM_001320699.2:c.*1213dup, NM_001320699.2:c.*1212_*1213dup, NM_001320699.2:c.*1211_*1213dup, NM_001320699.1:c.*1212_*1213del, NM_001320699.1:c.*1213del, NM_001320699.1:c.*1213dup, NM_001320699.1:c.*1212_*1213dup, NM_001320699.1:c.*1211_*1213dup, NR_172062.1:n.4427_4428del, NR_172062.1:n.4428del, NR_172062.1:n.4428dup, NR_172062.1:n.4427_4428dup, NR_172062.1:n.4426_4428dup, NM_001393975.1:c.*1212_*1213del, NM_001393975.1:c.*1213del, NM_001393975.1:c.*1213dup, NM_001393975.1:c.*1212_*1213dup, NM_001393975.1:c.*1211_*1213dup, NM_001393976.1:c.*1212_*1213del, NM_001393976.1:c.*1213del, NM_001393976.1:c.*1213dup, NM_001393976.1:c.*1212_*1213dup, NM_001393976.1:c.*1211_*1213dup, NM_001393978.1:c.*1212_*1213del, NM_001393978.1:c.*1213del, NM_001393978.1:c.*1213dup, NM_001393978.1:c.*1212_*1213dup, NM_001393978.1:c.*1211_*1213dup

Select item 149107246217.

rs1491072462 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:49486315 (GRCh38)
13:50060451 (GRCh37)
Canonical SPDI:: NC_000013.11:49486313:ATA:A
Gene:: SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.49486315_49486316del, NC_000013.10:g.50060451_50060452del

Select item 149105563218.

rs1491055632 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAA [Show Flanks]
Chromosome:: 13:49442797 (GRCh38)
13:50016934 (GRCh37)
Canonical SPDI:: NC_000013.11:49442797:AAAA:AAAACAAAA
Gene:: CAB39L (Varview), SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAACAAAA=0.000843/10 (ALFA)
AAAAC=0.00634/718 (GnomAD)
HGVS:: NC_000013.11:g.49442798_49442801A[4]CAAAA[1], NC_000013.10:g.50016934_50016937A[4]CAAAA[1]

Select item 149103793219.

rs1491037932 has merged into rs35416562 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 13:49466451 (GRCh38)
13:50040587 (GRCh37)
Canonical SPDI:: NC_000013.11:49466438:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:49466438:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:49466438:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:49466438:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:49466438:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.01871/11 (NorthernSweden)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000013.11:g.49466451_49466454del, NC_000013.11:g.49466453_49466454del, NC_000013.11:g.49466454del, NC_000013.11:g.49466454dup, NC_000013.11:g.49466453_49466454dup, NC_000013.10:g.50040587_50040590del, NC_000013.10:g.50040589_50040590del, NC_000013.10:g.50040590del, NC_000013.10:g.50040590dup, NC_000013.10:g.50040589_50040590dup

Select item 149102291820.

rs1491022918 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:49470966 (GRCh38)
13:50045102 (GRCh37)
Canonical SPDI:: NC_000013.11:49470964:TCT:T
Gene:: SETDB2 (Varview), SETDB2-PHF11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000013.11:g.49470966_49470967del, NC_000013.10:g.50045102_50045103del

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