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Select item 14915852711.

rs1491585271 has merged into rs902670237 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:36843376 (GRCh38)
13:37417513 (GRCh37)
Canonical SPDI:: NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36843366:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.36843376_36843390del, NC_000013.11:g.36843379_36843390del, NC_000013.11:g.36843380_36843390del, NC_000013.11:g.36843381_36843390del, NC_000013.11:g.36843382_36843390del, NC_000013.11:g.36843383_36843390del, NC_000013.11:g.36843384_36843390del, NC_000013.11:g.36843385_36843390del, NC_000013.11:g.36843386_36843390del, NC_000013.11:g.36843387_36843390del, NC_000013.11:g.36843388_36843390del, NC_000013.11:g.36843389_36843390del, NC_000013.11:g.36843390del, NC_000013.11:g.36843390dup, NC_000013.11:g.36843389_36843390dup, NC_000013.11:g.36843388_36843390dup, NC_000013.11:g.36843387_36843390dup, NC_000013.11:g.36843386_36843390dup, NC_000013.11:g.36843385_36843390dup, NC_000013.11:g.36843384_36843390dup, NC_000013.11:g.36843383_36843390dup, NC_000013.11:g.36843382_36843390dup, NC_000013.11:g.36843381_36843390dup, NC_000013.11:g.36843380_36843390dup, NC_000013.11:g.36843379_36843390dup, NC_000013.11:g.36843378_36843390dup, NC_000013.11:g.36843377_36843390dup, NC_000013.11:g.36843376_36843390dup, NC_000013.11:g.36843375_36843390dup, NC_000013.11:g.36843374_36843390dup, NC_000013.11:g.36843372_36843390dup, NC_000013.10:g.37417513_37417527del, NC_000013.10:g.37417516_37417527del, NC_000013.10:g.37417517_37417527del, NC_000013.10:g.37417518_37417527del, NC_000013.10:g.37417519_37417527del, NC_000013.10:g.37417520_37417527del, NC_000013.10:g.37417521_37417527del, NC_000013.10:g.37417522_37417527del, NC_000013.10:g.37417523_37417527del, NC_000013.10:g.37417524_37417527del, NC_000013.10:g.37417525_37417527del, NC_000013.10:g.37417526_37417527del, NC_000013.10:g.37417527del, NC_000013.10:g.37417527dup, NC_000013.10:g.37417526_37417527dup, NC_000013.10:g.37417525_37417527dup, NC_000013.10:g.37417524_37417527dup, NC_000013.10:g.37417523_37417527dup, NC_000013.10:g.37417522_37417527dup, NC_000013.10:g.37417521_37417527dup, NC_000013.10:g.37417520_37417527dup, NC_000013.10:g.37417519_37417527dup, NC_000013.10:g.37417518_37417527dup, NC_000013.10:g.37417517_37417527dup, NC_000013.10:g.37417516_37417527dup, NC_000013.10:g.37417515_37417527dup, NC_000013.10:g.37417514_37417527dup, NC_000013.10:g.37417513_37417527dup, NC_000013.10:g.37417512_37417527dup, NC_000013.10:g.37417511_37417527dup, NC_000013.10:g.37417509_37417527dup, NG_016963.1:g.81892_81906del, NG_016963.1:g.81895_81906del, NG_016963.1:g.81896_81906del, NG_016963.1:g.81897_81906del, NG_016963.1:g.81898_81906del, NG_016963.1:g.81899_81906del, NG_016963.1:g.81900_81906del, NG_016963.1:g.81901_81906del, NG_016963.1:g.81902_81906del, NG_016963.1:g.81903_81906del, NG_016963.1:g.81904_81906del, NG_016963.1:g.81905_81906del, NG_016963.1:g.81906del, NG_016963.1:g.81906dup, NG_016963.1:g.81905_81906dup, NG_016963.1:g.81904_81906dup, NG_016963.1:g.81903_81906dup, NG_016963.1:g.81902_81906dup, NG_016963.1:g.81901_81906dup, NG_016963.1:g.81900_81906dup, NG_016963.1:g.81899_81906dup, NG_016963.1:g.81898_81906dup, NG_016963.1:g.81897_81906dup, NG_016963.1:g.81896_81906dup, NG_016963.1:g.81895_81906dup, NG_016963.1:g.81894_81906dup, NG_016963.1:g.81893_81906dup, NG_016963.1:g.81892_81906dup, NG_016963.1:g.81891_81906dup, NG_016963.1:g.81890_81906dup, NG_016963.1:g.81888_81906dup

Select item 14915585312.

rs1491558531 has merged into rs60358673 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:36905788 (GRCh38)
13:37479925 (GRCh37)
Canonical SPDI:: NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36905774:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMAD9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000013.11:g.36905788_36905815del, NC_000013.11:g.36905789_36905815del, NC_000013.11:g.36905790_36905815del, NC_000013.11:g.36905791_36905815del, NC_000013.11:g.36905792_36905815del, NC_000013.11:g.36905793_36905815del, NC_000013.11:g.36905794_36905815del, NC_000013.11:g.36905795_36905815del, NC_000013.11:g.36905796_36905815del, NC_000013.11:g.36905797_36905815del, NC_000013.11:g.36905798_36905815del, NC_000013.11:g.36905799_36905815del, NC_000013.11:g.36905800_36905815del, NC_000013.11:g.36905801_36905815del, NC_000013.11:g.36905802_36905815del, NC_000013.11:g.36905803_36905815del, NC_000013.11:g.36905804_36905815del, NC_000013.11:g.36905805_36905815del, NC_000013.11:g.36905806_36905815del, NC_000013.11:g.36905807_36905815del, NC_000013.11:g.36905808_36905815del, NC_000013.11:g.36905809_36905815del, NC_000013.11:g.36905810_36905815del, NC_000013.11:g.36905811_36905815del, NC_000013.11:g.36905812_36905815del, NC_000013.11:g.36905813_36905815del, NC_000013.11:g.36905814_36905815del, NC_000013.11:g.36905815del, NC_000013.11:g.36905815dup, NC_000013.11:g.36905814_36905815dup, NC_000013.11:g.36905813_36905815dup, NC_000013.11:g.36905812_36905815dup, NC_000013.11:g.36905811_36905815dup, NC_000013.11:g.36905810_36905815dup, NC_000013.11:g.36905809_36905815dup, NC_000013.11:g.36905808_36905815dup, NC_000013.11:g.36905807_36905815dup, NC_000013.11:g.36905806_36905815dup, NC_000013.11:g.36905805_36905815dup, NC_000013.11:g.36905804_36905815dup, NC_000013.11:g.36905803_36905815dup, NC_000013.11:g.36905802_36905815dup, NC_000013.11:g.36905801_36905815dup, NC_000013.11:g.36905800_36905815dup, NC_000013.11:g.36905799_36905815dup, NC_000013.11:g.36905798_36905815dup, NC_000013.11:g.36905797_36905815dup, NC_000013.11:g.36905794_36905815dup, NC_000013.11:g.36905793_36905815dup, NC_000013.11:g.36905792_36905815dup, NC_000013.11:g.36905789_36905815dup, NC_000013.11:g.36905788_36905815dup, NC_000013.11:g.36905785_36905815dup, NC_000013.11:g.36905784_36905815dup, NC_000013.11:g.36905783_36905815dup, NC_000013.11:g.36905781_36905815dup, NC_000013.11:g.36905777_36905815dup, NC_000013.11:g.36905815_36905816insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.37479925_37479952del, NC_000013.10:g.37479926_37479952del, NC_000013.10:g.37479927_37479952del, NC_000013.10:g.37479928_37479952del, NC_000013.10:g.37479929_37479952del, NC_000013.10:g.37479930_37479952del, NC_000013.10:g.37479931_37479952del, NC_000013.10:g.37479932_37479952del, NC_000013.10:g.37479933_37479952del, NC_000013.10:g.37479934_37479952del, NC_000013.10:g.37479935_37479952del, NC_000013.10:g.37479936_37479952del, NC_000013.10:g.37479937_37479952del, NC_000013.10:g.37479938_37479952del, NC_000013.10:g.37479939_37479952del, NC_000013.10:g.37479940_37479952del, NC_000013.10:g.37479941_37479952del, NC_000013.10:g.37479942_37479952del, NC_000013.10:g.37479943_37479952del, NC_000013.10:g.37479944_37479952del, NC_000013.10:g.37479945_37479952del, NC_000013.10:g.37479946_37479952del, NC_000013.10:g.37479947_37479952del, NC_000013.10:g.37479948_37479952del, NC_000013.10:g.37479949_37479952del, NC_000013.10:g.37479950_37479952del, NC_000013.10:g.37479951_37479952del, NC_000013.10:g.37479952del, NC_000013.10:g.37479952dup, NC_000013.10:g.37479951_37479952dup, NC_000013.10:g.37479950_37479952dup, NC_000013.10:g.37479949_37479952dup, NC_000013.10:g.37479948_37479952dup, NC_000013.10:g.37479947_37479952dup, NC_000013.10:g.37479946_37479952dup, NC_000013.10:g.37479945_37479952dup, NC_000013.10:g.37479944_37479952dup, NC_000013.10:g.37479943_37479952dup, NC_000013.10:g.37479942_37479952dup, NC_000013.10:g.37479941_37479952dup, NC_000013.10:g.37479940_37479952dup, NC_000013.10:g.37479939_37479952dup, NC_000013.10:g.37479938_37479952dup, NC_000013.10:g.37479937_37479952dup, NC_000013.10:g.37479936_37479952dup, NC_000013.10:g.37479935_37479952dup, NC_000013.10:g.37479934_37479952dup, NC_000013.10:g.37479931_37479952dup, NC_000013.10:g.37479930_37479952dup, NC_000013.10:g.37479929_37479952dup, NC_000013.10:g.37479926_37479952dup, NC_000013.10:g.37479925_37479952dup, NC_000013.10:g.37479922_37479952dup, NC_000013.10:g.37479921_37479952dup, NC_000013.10:g.37479920_37479952dup, NC_000013.10:g.37479918_37479952dup, NC_000013.10:g.37479914_37479952dup, NC_000013.10:g.37479952_37479953insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016963.1:g.19471_19498del, NG_016963.1:g.19472_19498del, NG_016963.1:g.19473_19498del, NG_016963.1:g.19474_19498del, NG_016963.1:g.19475_19498del, NG_016963.1:g.19476_19498del, NG_016963.1:g.19477_19498del, NG_016963.1:g.19478_19498del, NG_016963.1:g.19479_19498del, NG_016963.1:g.19480_19498del, NG_016963.1:g.19481_19498del, NG_016963.1:g.19482_19498del, NG_016963.1:g.19483_19498del, NG_016963.1:g.19484_19498del, NG_016963.1:g.19485_19498del, NG_016963.1:g.19486_19498del, NG_016963.1:g.19487_19498del, NG_016963.1:g.19488_19498del, NG_016963.1:g.19489_19498del, NG_016963.1:g.19490_19498del, NG_016963.1:g.19491_19498del, NG_016963.1:g.19492_19498del, NG_016963.1:g.19493_19498del, NG_016963.1:g.19494_19498del, NG_016963.1:g.19495_19498del, NG_016963.1:g.19496_19498del, NG_016963.1:g.19497_19498del, NG_016963.1:g.19498del, NG_016963.1:g.19498dup, NG_016963.1:g.19497_19498dup, NG_016963.1:g.19496_19498dup, NG_016963.1:g.19495_19498dup, NG_016963.1:g.19494_19498dup, NG_016963.1:g.19493_19498dup, NG_016963.1:g.19492_19498dup, NG_016963.1:g.19491_19498dup, NG_016963.1:g.19490_19498dup, NG_016963.1:g.19489_19498dup, NG_016963.1:g.19488_19498dup, NG_016963.1:g.19487_19498dup, NG_016963.1:g.19486_19498dup, NG_016963.1:g.19485_19498dup, NG_016963.1:g.19484_19498dup, NG_016963.1:g.19483_19498dup, NG_016963.1:g.19482_19498dup, NG_016963.1:g.19481_19498dup, NG_016963.1:g.19480_19498dup, NG_016963.1:g.19477_19498dup, NG_016963.1:g.19476_19498dup, NG_016963.1:g.19475_19498dup, NG_016963.1:g.19472_19498dup, NG_016963.1:g.19471_19498dup, NG_016963.1:g.19468_19498dup, NG_016963.1:g.19467_19498dup, NG_016963.1:g.19466_19498dup, NG_016963.1:g.19464_19498dup, NG_016963.1:g.19460_19498dup, NG_016963.1:g.19498_19499insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915508773.

rs1491550877 has merged into rs34107763 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:36856809 (GRCh38)
13:37430946 (GRCh37)
Canonical SPDI:: NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36856798:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.36856809_36856818del, NC_000013.11:g.36856812_36856818del, NC_000013.11:g.36856813_36856818del, NC_000013.11:g.36856814_36856818del, NC_000013.11:g.36856815_36856818del, NC_000013.11:g.36856816_36856818del, NC_000013.11:g.36856817_36856818del, NC_000013.11:g.36856818del, NC_000013.11:g.36856818dup, NC_000013.11:g.36856817_36856818dup, NC_000013.11:g.36856816_36856818dup, NC_000013.11:g.36856815_36856818dup, NC_000013.11:g.36856814_36856818dup, NC_000013.11:g.36856813_36856818dup, NC_000013.11:g.36856812_36856818dup, NC_000013.11:g.36856811_36856818dup, NC_000013.10:g.37430946_37430955del, NC_000013.10:g.37430949_37430955del, NC_000013.10:g.37430950_37430955del, NC_000013.10:g.37430951_37430955del, NC_000013.10:g.37430952_37430955del, NC_000013.10:g.37430953_37430955del, NC_000013.10:g.37430954_37430955del, NC_000013.10:g.37430955del, NC_000013.10:g.37430955dup, NC_000013.10:g.37430954_37430955dup, NC_000013.10:g.37430953_37430955dup, NC_000013.10:g.37430952_37430955dup, NC_000013.10:g.37430951_37430955dup, NC_000013.10:g.37430950_37430955dup, NC_000013.10:g.37430949_37430955dup, NC_000013.10:g.37430948_37430955dup, NG_016963.1:g.68465_68474del, NG_016963.1:g.68468_68474del, NG_016963.1:g.68469_68474del, NG_016963.1:g.68470_68474del, NG_016963.1:g.68471_68474del, NG_016963.1:g.68472_68474del, NG_016963.1:g.68473_68474del, NG_016963.1:g.68474del, NG_016963.1:g.68474dup, NG_016963.1:g.68473_68474dup, NG_016963.1:g.68472_68474dup, NG_016963.1:g.68471_68474dup, NG_016963.1:g.68470_68474dup, NG_016963.1:g.68469_68474dup, NG_016963.1:g.68468_68474dup, NG_016963.1:g.68467_68474dup

Select item 14915279924.

rs1491527992 has merged into rs71084454 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 13:36900728 (GRCh38)
13:37474865 (GRCh37)
Canonical SPDI:: NC_000013.11:36900726:ATA:A,NC_000013.11:36900726:ATA:ATATA
Gene:: SMAD9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.026302/312 (ALFA)
AT=0.000546/1 (Korea1K)
-=0.027816/3488 (GnomAD)
-=0.03452/128 (TWINSUK)
-=0.038333/23 (NorthernSweden)
-=0.043072/166 (ALSPAC)
HGVS:: NC_000013.11:g.36900728_36900729del, NC_000013.11:g.36900728_36900729dup, NC_000013.10:g.37474865_37474866del, NC_000013.10:g.37474865_37474866dup, NG_016963.1:g.24545_24546del, NG_016963.1:g.24545_24546dup

Select item 14914487565.

rs1491448756 has merged into rs58444769 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA [Show Flanks]
Chromosome:: 13:36878187 (GRCh38)
13:37452324 (GRCh37)
Canonical SPDI:: NC_000013.11:36878175:ACACACACACACACACACA:ACACACACACA,NC_000013.11:36878175:ACACACACACACACACACA:ACACACACACACA,NC_000013.11:36878175:ACACACACACACACACACA:ACACACACACACACA,NC_000013.11:36878175:ACACACACACACACACACA:ACACACACACACACACA,NC_000013.11:36878175:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000013.11:36878175:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000013.11:36878175:ACACACACACACACACACA:ACACACACACACACACACACACACA
Gene:: SMAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACACACA=0./0 (ALFA)
AC=0.09824/492 (1000Genomes)
HGVS:: NC_000013.11:g.36878177CA[5], NC_000013.11:g.36878177CA[6], NC_000013.11:g.36878177CA[7], NC_000013.11:g.36878177CA[8], NC_000013.11:g.36878177CA[10], NC_000013.11:g.36878177CA[11], NC_000013.11:g.36878177CA[12], NC_000013.10:g.37452314CA[5], NC_000013.10:g.37452314CA[6], NC_000013.10:g.37452314CA[7], NC_000013.10:g.37452314CA[8], NC_000013.10:g.37452314CA[10], NC_000013.10:g.37452314CA[11], NC_000013.10:g.37452314CA[12], NG_016963.1:g.47080GT[5], NG_016963.1:g.47080GT[6], NG_016963.1:g.47080GT[7], NG_016963.1:g.47080GT[8], NG_016963.1:g.47080GT[10], NG_016963.1:g.47080GT[11], NG_016963.1:g.47080GT[12]

Select item 14913731476.

rs1491373147 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 13:36887041 (GRCh38)
13:37461179 (GRCh37)
Canonical SPDI:: NC_000013.11:36887041:T:TGT
Gene:: SMAD9 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.00042/14 (GnomAD)
HGVS:: NC_000013.11:g.36887042_36887043insGT, NC_000013.10:g.37461179_37461180insGT, NG_016963.1:g.38231_38232insCA, XM_047430355.1:c.-2564_-2563insCA

Select item 14913636447.

rs1491363644 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:36874854 (GRCh38)
13:37448991 (GRCh37)
Canonical SPDI:: NC_000013.11:36874853:CA:
Gene:: SMAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00143/17 (ALFA)
HGVS:: NC_000013.11:g.36874854_36874855del, NC_000013.10:g.37448991_37448992del, NG_016963.1:g.50418_50419del

Select item 14913492078.

rs1491349207 has merged into rs1286285988 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC [Show Flanks]
Chromosome:: 13:36874853 (GRCh38)
13:37448990 (GRCh37)
Canonical SPDI:: NC_000013.11:36874851:CCC:C,NC_000013.11:36874851:CCC:CC,NC_000013.11:36874851:CCC:CCCC
Gene:: SMAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.36874853_36874854del, NC_000013.11:g.36874854del, NC_000013.11:g.36874854dup, NC_000013.10:g.37448990_37448991del, NC_000013.10:g.37448991del, NC_000013.10:g.37448991dup, NG_016963.1:g.50420_50421del, NG_016963.1:g.50421del, NG_016963.1:g.50421dup

Select item 14912966179.

rs1491296617 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTC [Show Flanks]
Chromosome:: 13:36849276 (GRCh38)
13:37423414 (GRCh37)
Canonical SPDI:: NC_000013.11:36849276:CTC:CTCCTC
Gene:: SMAD9 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCTC=0.000071/1 (ALFA)
CTC=0.000011/3 (TOPMED)
CTC=0.000147/1 (GnomAD)
HGVS:: NC_000013.11:g.36849277_36849279dup, NC_000013.10:g.37423414_37423416dup, NG_016963.1:g.75994_75996dup, XM_006719827.4:c.*3059_*3061dup, XM_005266403.4:c.*3059_*3061dup, XM_005266404.4:c.*3059_*3061dup, XM_047430355.1:c.*3059_*3061dup, XM_047430354.1:c.*3059_*3061dup, XM_047430356.1:c.*3059_*3061dup, XM_047430361.1:c.*3059_*3061dup, XM_047430362.1:c.*3059_*3061dup

Select item 149129579210.

rs1491295792 has merged into rs529721275 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:36874864 (GRCh38)
13:37449001 (GRCh37)
Canonical SPDI:: NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:36874854:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000013.11:g.36874864_36874879del, NC_000013.11:g.36874867_36874879del, NC_000013.11:g.36874868_36874879del, NC_000013.11:g.36874869_36874879del, NC_000013.11:g.36874870_36874879del, NC_000013.11:g.36874871_36874879del, NC_000013.11:g.36874872_36874879del, NC_000013.11:g.36874873_36874879del, NC_000013.11:g.36874875_36874879del, NC_000013.11:g.36874876_36874879del, NC_000013.11:g.36874877_36874879del, NC_000013.11:g.36874878_36874879del, NC_000013.11:g.36874879del, NC_000013.11:g.36874879dup, NC_000013.11:g.36874878_36874879dup, NC_000013.11:g.36874877_36874879dup, NC_000013.11:g.36874876_36874879dup, NC_000013.11:g.36874875_36874879dup, NC_000013.11:g.36874874_36874879dup, NC_000013.11:g.36874873_36874879dup, NC_000013.11:g.36874872_36874879dup, NC_000013.11:g.36874869_36874879dup, NC_000013.10:g.37449001_37449016del, NC_000013.10:g.37449004_37449016del, NC_000013.10:g.37449005_37449016del, NC_000013.10:g.37449006_37449016del, NC_000013.10:g.37449007_37449016del, NC_000013.10:g.37449008_37449016del, NC_000013.10:g.37449009_37449016del, NC_000013.10:g.37449010_37449016del, NC_000013.10:g.37449012_37449016del, NC_000013.10:g.37449013_37449016del, NC_000013.10:g.37449014_37449016del, NC_000013.10:g.37449015_37449016del, NC_000013.10:g.37449016del, NC_000013.10:g.37449016dup, NC_000013.10:g.37449015_37449016dup, NC_000013.10:g.37449014_37449016dup, NC_000013.10:g.37449013_37449016dup, NC_000013.10:g.37449012_37449016dup, NC_000013.10:g.37449011_37449016dup, NC_000013.10:g.37449010_37449016dup, NC_000013.10:g.37449009_37449016dup, NC_000013.10:g.37449006_37449016dup, NG_016963.1:g.50403_50418del, NG_016963.1:g.50406_50418del, NG_016963.1:g.50407_50418del, NG_016963.1:g.50408_50418del, NG_016963.1:g.50409_50418del, NG_016963.1:g.50410_50418del, NG_016963.1:g.50411_50418del, NG_016963.1:g.50412_50418del, NG_016963.1:g.50414_50418del, NG_016963.1:g.50415_50418del, NG_016963.1:g.50416_50418del, NG_016963.1:g.50417_50418del, NG_016963.1:g.50418del, NG_016963.1:g.50418dup, NG_016963.1:g.50417_50418dup, NG_016963.1:g.50416_50418dup, NG_016963.1:g.50415_50418dup, NG_016963.1:g.50414_50418dup, NG_016963.1:g.50413_50418dup, NG_016963.1:g.50412_50418dup, NG_016963.1:g.50411_50418dup, NG_016963.1:g.50408_50418dup

Select item 149128588711.

rs1491285887 has merged into rs58756918 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 13:36900698 (GRCh38)
13:37474835 (GRCh37)
Canonical SPDI:: NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:36900684:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: SMAD9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.471/2359 (1000Genomes)
HGVS:: NC_000013.11:g.36900686CA[6], NC_000013.11:g.36900686CA[7], NC_000013.11:g.36900686CA[8], NC_000013.11:g.36900686CA[9], NC_000013.11:g.36900686CA[10], NC_000013.11:g.36900686CA[11], NC_000013.11:g.36900686CA[12], NC_000013.11:g.36900686CA[13], NC_000013.11:g.36900686CA[14], NC_000013.11:g.36900686CA[15], NC_000013.11:g.36900686CA[16], NC_000013.11:g.36900686CA[17], NC_000013.11:g.36900686CA[18], NC_000013.11:g.36900686CA[19], NC_000013.11:g.36900686CA[20], NC_000013.11:g.36900686CA[22], NC_000013.11:g.36900686CA[23], NC_000013.11:g.36900686CA[24], NC_000013.11:g.36900686CA[25], NC_000013.11:g.36900686CA[26], NC_000013.11:g.36900686CA[27], NC_000013.11:g.36900686CA[28], NC_000013.11:g.36900686CA[29], NC_000013.11:g.36900686CA[31], NC_000013.10:g.37474823CA[6], NC_000013.10:g.37474823CA[7], NC_000013.10:g.37474823CA[8], NC_000013.10:g.37474823CA[9], NC_000013.10:g.37474823CA[10], NC_000013.10:g.37474823CA[11], NC_000013.10:g.37474823CA[12], NC_000013.10:g.37474823CA[13], NC_000013.10:g.37474823CA[14], NC_000013.10:g.37474823CA[15], NC_000013.10:g.37474823CA[16], NC_000013.10:g.37474823CA[17], NC_000013.10:g.37474823CA[18], NC_000013.10:g.37474823CA[19], NC_000013.10:g.37474823CA[20], NC_000013.10:g.37474823CA[22], NC_000013.10:g.37474823CA[23], NC_000013.10:g.37474823CA[24], NC_000013.10:g.37474823CA[25], NC_000013.10:g.37474823CA[26], NC_000013.10:g.37474823CA[27], NC_000013.10:g.37474823CA[28], NC_000013.10:g.37474823CA[29], NC_000013.10:g.37474823CA[31], NG_016963.1:g.24547GT[6], NG_016963.1:g.24547GT[7], NG_016963.1:g.24547GT[8], NG_016963.1:g.24547GT[9], NG_016963.1:g.24547GT[10], NG_016963.1:g.24547GT[11], NG_016963.1:g.24547GT[12], NG_016963.1:g.24547GT[13], NG_016963.1:g.24547GT[14], NG_016963.1:g.24547GT[15], NG_016963.1:g.24547GT[16], NG_016963.1:g.24547GT[17], NG_016963.1:g.24547GT[18], NG_016963.1:g.24547GT[19], NG_016963.1:g.24547GT[20], NG_016963.1:g.24547GT[22], NG_016963.1:g.24547GT[23], NG_016963.1:g.24547GT[24], NG_016963.1:g.24547GT[25], NG_016963.1:g.24547GT[26], NG_016963.1:g.24547GT[27], NG_016963.1:g.24547GT[28], NG_016963.1:g.24547GT[29], NG_016963.1:g.24547GT[31]

Select item 149123268112.

rs1491232681 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 13:36893441 (GRCh38)
13:37467578 (GRCh37)
Canonical SPDI:: NC_000013.11:36893439:AAA:A
Gene:: SMAD9 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001102/18 (ALFA)
-=0.001757/237 (GnomAD)
-=0.003748/24 (1000Genomes)
-=0.004742/79 (TOMMO)
-=0.02846/51 (Korea1K)
HGVS:: NC_000013.11:g.36893441_36893442del, NC_000013.10:g.37467578_37467579del, NG_016963.1:g.31832_31833del

Select item 149121965513.

rs1491219655 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 13:36915564 (GRCh38)
13:37489701 (GRCh37)
Canonical SPDI:: NC_000013.11:36915563:AA:
Gene:: SMAD9 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000013.11:g.36915564_36915565del, NC_000013.10:g.37489701_37489702del, NG_016963.1:g.9708_9709del

Select item 149118219414.

rs1491182194 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 13:36874851 (GRCh38)
13:37448988 (GRCh37)
Canonical SPDI:: NC_000013.11:36874850:TC:
Gene:: SMAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.36874851_36874852del, NC_000013.10:g.37448988_37448989del, NG_016963.1:g.50421_50422del

Select item 149116503415.

rs1491165034 [Homo sapiens]

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

Select item 149114137816.

rs1491141378 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 13:36920187 (GRCh38)
13:37494324 (GRCh37)
Canonical SPDI:: NC_000013.11:36920186:AG:
Gene:: SMAD9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000013.11:g.36920187_36920188del, NC_000013.10:g.37494324_37494325del, NG_016963.1:g.5085_5086del, NM_005905.6:c.-259_-258del, NM_005905.5:c.-259_-258del, NM_001127217.3:c.-259_-258del, NM_001127217.2:c.-259_-258del, XM_005266403.4:c.-259_-258del, XM_005266403.3:c.-259_-258del, XM_005266403.2:c.-259_-258del, XM_005266403.1:c.-259_-258del, XM_005266404.4:c.-259_-258del, XM_005266404.3:c.-259_-258del, XM_005266404.2:c.-259_-258del, XM_005266404.1:c.-259_-258del, XM_047430354.1:c.-259_-258del, XM_047430361.1:c.-259_-258del, XM_047430365.1:c.-259_-258del, XM_047430366.1:c.-259_-258del

Select item 149111602317.

rs1491116023 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:36905774 (GRCh38)
13:37479911 (GRCh37)
Canonical SPDI:: NC_000013.11:36905773:CA:
Gene:: SMAD9 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.36905774_36905775del, NC_000013.10:g.37479911_37479912del, NG_016963.1:g.19498_19499del

Select item 149111166018.

rs1491111660 has merged into rs200264324 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:36887053 (GRCh38)
13:37461190 (GRCh37)
Canonical SPDI:: NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:36887040:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMAD9 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.36887053_36887063del, NC_000013.11:g.36887054_36887063del, NC_000013.11:g.36887055_36887063del, NC_000013.11:g.36887056_36887063del, NC_000013.11:g.36887057_36887063del, NC_000013.11:g.36887058_36887063del, NC_000013.11:g.36887059_36887063del, NC_000013.11:g.36887060_36887063del, NC_000013.11:g.36887061_36887063del, NC_000013.11:g.36887062_36887063del, NC_000013.11:g.36887063del, NC_000013.11:g.36887063dup, NC_000013.11:g.36887062_36887063dup, NC_000013.11:g.36887061_36887063dup, NC_000013.11:g.36887060_36887063dup, NC_000013.11:g.36887059_36887063dup, NC_000013.11:g.36887058_36887063dup, NC_000013.11:g.36887057_36887063dup, NC_000013.11:g.36887056_36887063dup, NC_000013.11:g.36887055_36887063dup, NC_000013.11:g.36887054_36887063dup, NC_000013.11:g.36887053_36887063dup, NC_000013.11:g.36887052_36887063dup, NC_000013.11:g.36887051_36887063dup, NC_000013.11:g.36887050_36887063dup, NC_000013.11:g.36887049_36887063dup, NC_000013.11:g.36887048_36887063dup, NC_000013.11:g.36887046_36887063dup, NC_000013.10:g.37461190_37461200del, NC_000013.10:g.37461191_37461200del, NC_000013.10:g.37461192_37461200del, NC_000013.10:g.37461193_37461200del, NC_000013.10:g.37461194_37461200del, NC_000013.10:g.37461195_37461200del, NC_000013.10:g.37461196_37461200del, NC_000013.10:g.37461197_37461200del, NC_000013.10:g.37461198_37461200del, NC_000013.10:g.37461199_37461200del, NC_000013.10:g.37461200del, NC_000013.10:g.37461200dup, NC_000013.10:g.37461199_37461200dup, NC_000013.10:g.37461198_37461200dup, NC_000013.10:g.37461197_37461200dup, NC_000013.10:g.37461196_37461200dup, NC_000013.10:g.37461195_37461200dup, NC_000013.10:g.37461194_37461200dup, NC_000013.10:g.37461193_37461200dup, NC_000013.10:g.37461192_37461200dup, NC_000013.10:g.37461191_37461200dup, NC_000013.10:g.37461190_37461200dup, NC_000013.10:g.37461189_37461200dup, NC_000013.10:g.37461188_37461200dup, NC_000013.10:g.37461187_37461200dup, NC_000013.10:g.37461186_37461200dup, NC_000013.10:g.37461185_37461200dup, NC_000013.10:g.37461183_37461200dup, NG_016963.1:g.38222_38232del, NG_016963.1:g.38223_38232del, NG_016963.1:g.38224_38232del, NG_016963.1:g.38225_38232del, NG_016963.1:g.38226_38232del, NG_016963.1:g.38227_38232del, NG_016963.1:g.38228_38232del, NG_016963.1:g.38229_38232del, NG_016963.1:g.38230_38232del, NG_016963.1:g.38231_38232del, NG_016963.1:g.38232del, NG_016963.1:g.38232dup, NG_016963.1:g.38231_38232dup, NG_016963.1:g.38230_38232dup, NG_016963.1:g.38229_38232dup, NG_016963.1:g.38228_38232dup, NG_016963.1:g.38227_38232dup, NG_016963.1:g.38226_38232dup, NG_016963.1:g.38225_38232dup, NG_016963.1:g.38224_38232dup, NG_016963.1:g.38223_38232dup, NG_016963.1:g.38222_38232dup, NG_016963.1:g.38221_38232dup, NG_016963.1:g.38220_38232dup, NG_016963.1:g.38219_38232dup, NG_016963.1:g.38218_38232dup, NG_016963.1:g.38217_38232dup, NG_016963.1:g.38215_38232dup

Select item 149105762219.

rs1491057622 has merged into rs34654500 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 13:36869838 (GRCh38)
13:37443975 (GRCh37)
Canonical SPDI:: NC_000013.11:36869829:AAAAAAAAAAAA:AAAAAAAA,NC_000013.11:36869829:AAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:36869829:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:36869829:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:36869829:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:36869829:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: SMAD9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000013.11:g.36869838_36869841del, NC_000013.11:g.36869840_36869841del, NC_000013.11:g.36869841del, NC_000013.11:g.36869841dup, NC_000013.11:g.36869840_36869841dup, NC_000013.11:g.36869837_36869841dup, NC_000013.10:g.37443975_37443978del, NC_000013.10:g.37443977_37443978del, NC_000013.10:g.37443978del, NC_000013.10:g.37443978dup, NC_000013.10:g.37443977_37443978dup, NC_000013.10:g.37443974_37443978dup, NG_016963.1:g.55440_55443del, NG_016963.1:g.55442_55443del, NG_016963.1:g.55443del, NG_016963.1:g.55443dup, NG_016963.1:g.55442_55443dup, NG_016963.1:g.55439_55443dup

Select item 149096476620.

rs1490964766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:36918451 (GRCh38)
13:37492588 (GRCh37)
Canonical SPDI:: NC_000013.11:36918450:C:T
Gene:: SMAD9 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.36918451C>T, NC_000013.10:g.37492588C>T, NG_016963.1:g.6822G>A, XM_047430358.1:c.-1981G>A, XM_047430363.1:c.-1981G>A

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