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Select item 14915229881.

rs1491522988 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:64545733 (GRCh38)
17:62541851 (GRCh37)
Canonical SPDI:: NC_000017.11:64545732:AG:
Gene:: SMURF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00034/4 (ALFA)
-=0.0007/62 (GnomAD)
-=0.00254/40 (TOMMO)
HGVS:: NC_000017.11:g.64545733_64545734del, NC_000017.10:g.62541851_62541852del, NW_003315947.1:g.349580_349581del, NM_022739.4:c.*114_*115del, NM_022739.3:c.*114_*115del, XM_005257585.4:c.*114_*115del, XM_005257585.3:c.*114_*115del, XM_005257585.2:c.*114_*115del, XM_005257585.1:c.*114_*115del, XM_047436546.1:c.*114_*115del

Select item 14915119502.

rs1491511950 has merged into rs1164717270 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:64566570 (GRCh38)
17:62562688 (GRCh37)
Canonical SPDI:: NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64566561:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMURF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.64566570_64566591del, NC_000017.11:g.64566571_64566591del, NC_000017.11:g.64566572_64566591del, NC_000017.11:g.64566573_64566591del, NC_000017.11:g.64566574_64566591del, NC_000017.11:g.64566575_64566591del, NC_000017.11:g.64566576_64566591del, NC_000017.11:g.64566577_64566591del, NC_000017.11:g.64566578_64566591del, NC_000017.11:g.64566579_64566591del, NC_000017.11:g.64566580_64566591del, NC_000017.11:g.64566581_64566591del, NC_000017.11:g.64566582_64566591del, NC_000017.11:g.64566583_64566591del, NC_000017.11:g.64566584_64566591del, NC_000017.11:g.64566585_64566591del, NC_000017.11:g.64566586_64566591del, NC_000017.11:g.64566587_64566591del, NC_000017.11:g.64566588_64566591del, NC_000017.11:g.64566589_64566591del, NC_000017.11:g.64566590_64566591del, NC_000017.11:g.64566591del, NC_000017.11:g.64566591dup, NC_000017.11:g.64566562_64566591T[31]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.64566590_64566591dup, NC_000017.11:g.64566589_64566591dup, NC_000017.11:g.64566588_64566591dup, NC_000017.11:g.64566587_64566591dup, NC_000017.11:g.64566586_64566591dup, NC_000017.11:g.64566585_64566591dup, NC_000017.11:g.64566584_64566591dup, NC_000017.11:g.64566583_64566591dup, NC_000017.11:g.64566582_64566591dup, NC_000017.11:g.64566581_64566591dup, NC_000017.11:g.64566580_64566591dup, NC_000017.11:g.64566579_64566591dup, NC_000017.11:g.64566577_64566591dup, NC_000017.11:g.64566576_64566591dup, NC_000017.11:g.64566574_64566591dup, NC_000017.11:g.64566573_64566591dup, NC_000017.11:g.64566572_64566591dup, NC_000017.11:g.64566571_64566591dup, NC_000017.11:g.64566570_64566591dup, NC_000017.11:g.64566569_64566591dup, NC_000017.11:g.64566568_64566591dup, NC_000017.11:g.64566567_64566591dup, NC_000017.11:g.64566566_64566591dup, NC_000017.11:g.64566565_64566591dup, NC_000017.11:g.64566564_64566591dup, NC_000017.11:g.64566563_64566591dup, NC_000017.11:g.64566562_64566591dup, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.64566591_64566592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562688_62562709del, NC_000017.10:g.62562689_62562709del, NC_000017.10:g.62562690_62562709del, NC_000017.10:g.62562691_62562709del, NC_000017.10:g.62562692_62562709del, NC_000017.10:g.62562693_62562709del, NC_000017.10:g.62562694_62562709del, NC_000017.10:g.62562695_62562709del, NC_000017.10:g.62562696_62562709del, NC_000017.10:g.62562697_62562709del, NC_000017.10:g.62562698_62562709del, NC_000017.10:g.62562699_62562709del, NC_000017.10:g.62562700_62562709del, NC_000017.10:g.62562701_62562709del, NC_000017.10:g.62562702_62562709del, NC_000017.10:g.62562703_62562709del, NC_000017.10:g.62562704_62562709del, NC_000017.10:g.62562705_62562709del, NC_000017.10:g.62562706_62562709del, NC_000017.10:g.62562707_62562709del, NC_000017.10:g.62562708_62562709del, NC_000017.10:g.62562709del, NC_000017.10:g.62562709dup, NC_000017.10:g.62562680_62562709T[31]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.62562708_62562709dup, NC_000017.10:g.62562707_62562709dup, NC_000017.10:g.62562706_62562709dup, NC_000017.10:g.62562705_62562709dup, NC_000017.10:g.62562704_62562709dup, NC_000017.10:g.62562703_62562709dup, NC_000017.10:g.62562702_62562709dup, NC_000017.10:g.62562701_62562709dup, NC_000017.10:g.62562700_62562709dup, NC_000017.10:g.62562699_62562709dup, NC_000017.10:g.62562698_62562709dup, NC_000017.10:g.62562697_62562709dup, NC_000017.10:g.62562695_62562709dup, NC_000017.10:g.62562694_62562709dup, NC_000017.10:g.62562692_62562709dup, NC_000017.10:g.62562691_62562709dup, NC_000017.10:g.62562690_62562709dup, NC_000017.10:g.62562689_62562709dup, NC_000017.10:g.62562688_62562709dup, NC_000017.10:g.62562687_62562709dup, NC_000017.10:g.62562686_62562709dup, NC_000017.10:g.62562685_62562709dup, NC_000017.10:g.62562684_62562709dup, NC_000017.10:g.62562683_62562709dup, NC_000017.10:g.62562682_62562709dup, NC_000017.10:g.62562681_62562709dup, NC_000017.10:g.62562680_62562709dup, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.62562709_62562710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370417_370438del, NW_003315947.1:g.370418_370438del, NW_003315947.1:g.370419_370438del, NW_003315947.1:g.370420_370438del, NW_003315947.1:g.370421_370438del, NW_003315947.1:g.370422_370438del, NW_003315947.1:g.370423_370438del, NW_003315947.1:g.370424_370438del, NW_003315947.1:g.370425_370438del, NW_003315947.1:g.370426_370438del, NW_003315947.1:g.370427_370438del, NW_003315947.1:g.370428_370438del, NW_003315947.1:g.370429_370438del, NW_003315947.1:g.370430_370438del, NW_003315947.1:g.370431_370438del, NW_003315947.1:g.370432_370438del, NW_003315947.1:g.370433_370438del, NW_003315947.1:g.370434_370438del, NW_003315947.1:g.370435_370438del, NW_003315947.1:g.370436_370438del, NW_003315947.1:g.370437_370438del, NW_003315947.1:g.370438del, NW_003315947.1:g.370438dup, NW_003315947.1:g.370409_370438T[31]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NW_003315947.1:g.370437_370438dup, NW_003315947.1:g.370436_370438dup, NW_003315947.1:g.370435_370438dup, NW_003315947.1:g.370434_370438dup, NW_003315947.1:g.370433_370438dup, NW_003315947.1:g.370432_370438dup, NW_003315947.1:g.370431_370438dup, NW_003315947.1:g.370430_370438dup, NW_003315947.1:g.370429_370438dup, NW_003315947.1:g.370428_370438dup, NW_003315947.1:g.370427_370438dup, NW_003315947.1:g.370426_370438dup, NW_003315947.1:g.370424_370438dup, NW_003315947.1:g.370423_370438dup, NW_003315947.1:g.370421_370438dup, NW_003315947.1:g.370420_370438dup, NW_003315947.1:g.370419_370438dup, NW_003315947.1:g.370418_370438dup, NW_003315947.1:g.370417_370438dup, NW_003315947.1:g.370416_370438dup, NW_003315947.1:g.370415_370438dup, NW_003315947.1:g.370414_370438dup, NW_003315947.1:g.370413_370438dup, NW_003315947.1:g.370412_370438dup, NW_003315947.1:g.370411_370438dup, NW_003315947.1:g.370410_370438dup, NW_003315947.1:g.370409_370438dup, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003315947.1:g.370438_370439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914930663.

rs1491493066 has merged into rs200773394 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 17:64621989 (GRCh38)
17:62618107 (GRCh37)
Canonical SPDI:: NC_000017.11:64621985:AAAAAAAA:AAA,NC_000017.11:64621985:AAAAAAAA:AAAAA,NC_000017.11:64621985:AAAAAAAA:AAAAAA,NC_000017.11:64621985:AAAAAAAA:AAAAAAA,NC_000017.11:64621985:AAAAAAAA:AAAAAAAAA,NC_000017.11:64621985:AAAAAAAA:AAAAAAAAAAA
Gene:: SMURF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.64621989_64621993del, NC_000017.11:g.64621991_64621993del, NC_000017.11:g.64621992_64621993del, NC_000017.11:g.64621993del, NC_000017.11:g.64621993dup, NC_000017.11:g.64621991_64621993dup, NC_000017.10:g.62618107_62618111del, NC_000017.10:g.62618109_62618111del, NC_000017.10:g.62618110_62618111del, NC_000017.10:g.62618111del, NC_000017.10:g.62618111dup, NC_000017.10:g.62618109_62618111dup, NW_003315947.1:g.425836_425840del, NW_003315947.1:g.425838_425840del, NW_003315947.1:g.425839_425840del, NW_003315947.1:g.425840del, NW_003315947.1:g.425840dup, NW_003315947.1:g.425838_425840dup

Select item 14914897124.

rs1491489712 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:64588091 (GRCh38)
17:62584209 (GRCh37)
Canonical SPDI:: NC_000017.11:64588090:CA:
Gene:: SMURF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000054/6 (GnomAD)
HGVS:: NC_000017.11:g.64588091_64588092del, NC_000017.10:g.62584209_62584210del, NW_003315947.1:g.391938_391939del

Select item 14914840745.

rs1491484074 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 17:64590145 (GRCh38)
17:62586264 (GRCh37)
Canonical SPDI:: NC_000017.11:64590145:TTT:TTTCTTT
Gene:: SMURF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTT=0.00008/1 (ALFA)
TTTC=0.00004/3 (GnomAD)
HGVS:: NC_000017.11:g.64590148_64590149insCTTT, NC_000017.10:g.62586266_62586267insCTTT, NW_003315947.1:g.393995_393996insCTTT

Select item 14914792186.

rs1491479218 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:64560966 (GRCh38)
17:62557084 (GRCh37)
Canonical SPDI:: NC_000017.11:64560965:CA:
Gene:: SMURF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000017.11:g.64560966_64560967del, NC_000017.10:g.62557084_62557085del, NW_003315947.1:g.364813_364814del

Select item 14914519127.

rs1491451912 has merged into rs59188589 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGG>-,GG,GGG,GGGG,GGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG [Show Flanks]
Chromosome:: 17:64545741 (GRCh38)
17:62541859 (GRCh37)
Canonical SPDI:: NC_000017.11:64545733:GGGGGGGGGGGGG:GGGGGGG,NC_000017.11:64545733:GGGGGGGGGGGGG:GGGGGGGGG,NC_000017.11:64545733:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:64545733:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000017.11:64545733:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:64545733:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000017.11:64545733:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000017.11:64545733:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000017.11:64545733:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000017.11:64545733:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000017.11:64545733:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000017.11:64545733:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG
Gene:: SMURF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
GG=0.275/11 (GENOME_DK)
HGVS:: NC_000017.11:g.64545741_64545746del, NC_000017.11:g.64545743_64545746del, NC_000017.11:g.64545744_64545746del, NC_000017.11:g.64545745_64545746del, NC_000017.11:g.64545746del, NC_000017.11:g.64545746dup, NC_000017.11:g.64545745_64545746dup, NC_000017.11:g.64545744_64545746dup, NC_000017.11:g.64545743_64545746dup, NC_000017.11:g.64545742_64545746dup, NC_000017.11:g.64545741_64545746dup, NC_000017.11:g.64545740_64545746dup, NC_000017.10:g.62541859_62541864del, NC_000017.10:g.62541861_62541864del, NC_000017.10:g.62541862_62541864del, NC_000017.10:g.62541863_62541864del, NC_000017.10:g.62541864del, NC_000017.10:g.62541864dup, NC_000017.10:g.62541863_62541864dup, NC_000017.10:g.62541862_62541864dup, NC_000017.10:g.62541861_62541864dup, NC_000017.10:g.62541860_62541864dup, NC_000017.10:g.62541859_62541864dup, NC_000017.10:g.62541858_62541864dup, NW_003315947.1:g.349588_349593del, NW_003315947.1:g.349590_349593del, NW_003315947.1:g.349591_349593del, NW_003315947.1:g.349592_349593del, NW_003315947.1:g.349593del, NW_003315947.1:g.349593dup, NW_003315947.1:g.349592_349593dup, NW_003315947.1:g.349591_349593dup, NW_003315947.1:g.349590_349593dup, NW_003315947.1:g.349589_349593dup, NW_003315947.1:g.349588_349593dup, NW_003315947.1:g.349587_349593dup, NM_022739.4:c.*109_*114del, NM_022739.4:c.*111_*114del, NM_022739.4:c.*112_*114del, NM_022739.4:c.*113_*114del, NM_022739.4:c.*114del, NM_022739.4:c.*114dup, NM_022739.4:c.*113_*114dup, NM_022739.4:c.*112_*114dup, NM_022739.4:c.*111_*114dup, NM_022739.4:c.*110_*114dup, NM_022739.4:c.*109_*114dup, NM_022739.4:c.*108_*114dup, NM_022739.3:c.*109_*114del, NM_022739.3:c.*111_*114del, NM_022739.3:c.*112_*114del, NM_022739.3:c.*113_*114del, NM_022739.3:c.*114del, NM_022739.3:c.*114dup, NM_022739.3:c.*113_*114dup, NM_022739.3:c.*112_*114dup, NM_022739.3:c.*111_*114dup, NM_022739.3:c.*110_*114dup, NM_022739.3:c.*109_*114dup, NM_022739.3:c.*108_*114dup, XM_005257585.4:c.*109_*114del, XM_005257585.4:c.*111_*114del, XM_005257585.4:c.*112_*114del, XM_005257585.4:c.*113_*114del, XM_005257585.4:c.*114del, XM_005257585.4:c.*114dup, XM_005257585.4:c.*113_*114dup, XM_005257585.4:c.*112_*114dup, XM_005257585.4:c.*111_*114dup, XM_005257585.4:c.*110_*114dup, XM_005257585.4:c.*109_*114dup, XM_005257585.4:c.*108_*114dup, XM_005257585.3:c.*109_*114del, XM_005257585.3:c.*111_*114del, XM_005257585.3:c.*112_*114del, XM_005257585.3:c.*113_*114del, XM_005257585.3:c.*114del, XM_005257585.3:c.*114dup, XM_005257585.3:c.*113_*114dup, XM_005257585.3:c.*112_*114dup, XM_005257585.3:c.*111_*114dup, XM_005257585.3:c.*110_*114dup, XM_005257585.3:c.*109_*114dup, XM_005257585.3:c.*108_*114dup, XM_005257585.2:c.*109_*114del, XM_005257585.2:c.*111_*114del, XM_005257585.2:c.*112_*114del, XM_005257585.2:c.*113_*114del, XM_005257585.2:c.*114del, XM_005257585.2:c.*114dup, XM_005257585.2:c.*113_*114dup, XM_005257585.2:c.*112_*114dup, XM_005257585.2:c.*111_*114dup, XM_005257585.2:c.*110_*114dup, XM_005257585.2:c.*109_*114dup, XM_005257585.2:c.*108_*114dup, XM_005257585.1:c.*109_*114del, XM_005257585.1:c.*111_*114del, XM_005257585.1:c.*112_*114del, XM_005257585.1:c.*113_*114del, XM_005257585.1:c.*114del, XM_005257585.1:c.*114dup, XM_005257585.1:c.*113_*114dup, XM_005257585.1:c.*112_*114dup, XM_005257585.1:c.*111_*114dup, XM_005257585.1:c.*110_*114dup, XM_005257585.1:c.*109_*114dup, XM_005257585.1:c.*108_*114dup, XM_047436546.1:c.*109_*114del, XM_047436546.1:c.*111_*114del, XM_047436546.1:c.*112_*114del, XM_047436546.1:c.*113_*114del, XM_047436546.1:c.*114del, XM_047436546.1:c.*114dup, XM_047436546.1:c.*113_*114dup, XM_047436546.1:c.*112_*114dup, XM_047436546.1:c.*111_*114dup, XM_047436546.1:c.*110_*114dup, XM_047436546.1:c.*109_*114dup, XM_047436546.1:c.*108_*114dup

Select item 14914460528.

rs1491446052 has merged into rs200015210 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:64590155 (GRCh38)
17:62586273 (GRCh37)
Canonical SPDI:: NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64590144:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMURF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TTTT=0.032693/126 (ALSPAC)
TTTT=0.033981/126 (TWINSUK)
TTTT=0.036667/22 (NorthernSweden)
HGVS:: NC_000017.11:g.64590155_64590159del, NC_000017.11:g.64590156_64590159del, NC_000017.11:g.64590157_64590159del, NC_000017.11:g.64590158_64590159del, NC_000017.11:g.64590159del, NC_000017.11:g.64590159dup, NC_000017.11:g.64590158_64590159dup, NC_000017.11:g.64590157_64590159dup, NC_000017.11:g.64590156_64590159dup, NC_000017.11:g.64590155_64590159dup, NC_000017.11:g.64590154_64590159dup, NC_000017.11:g.64590153_64590159dup, NC_000017.11:g.64590152_64590159dup, NC_000017.11:g.64590151_64590159dup, NC_000017.11:g.64590150_64590159dup, NC_000017.11:g.64590149_64590159dup, NC_000017.11:g.64590148_64590159dup, NC_000017.10:g.62586273_62586277del, NC_000017.10:g.62586274_62586277del, NC_000017.10:g.62586275_62586277del, NC_000017.10:g.62586276_62586277del, NC_000017.10:g.62586277del, NC_000017.10:g.62586277dup, NC_000017.10:g.62586276_62586277dup, NC_000017.10:g.62586275_62586277dup, NC_000017.10:g.62586274_62586277dup, NC_000017.10:g.62586273_62586277dup, NC_000017.10:g.62586272_62586277dup, NC_000017.10:g.62586271_62586277dup, NC_000017.10:g.62586270_62586277dup, NC_000017.10:g.62586269_62586277dup, NC_000017.10:g.62586268_62586277dup, NC_000017.10:g.62586267_62586277dup, NC_000017.10:g.62586266_62586277dup, NW_003315947.1:g.394002_394006del, NW_003315947.1:g.394003_394006del, NW_003315947.1:g.394004_394006del, NW_003315947.1:g.394005_394006del, NW_003315947.1:g.394006del, NW_003315947.1:g.394006dup, NW_003315947.1:g.394005_394006dup, NW_003315947.1:g.394004_394006dup, NW_003315947.1:g.394003_394006dup, NW_003315947.1:g.394002_394006dup, NW_003315947.1:g.394001_394006dup, NW_003315947.1:g.394000_394006dup, NW_003315947.1:g.393999_394006dup, NW_003315947.1:g.393998_394006dup, NW_003315947.1:g.393997_394006dup, NW_003315947.1:g.393996_394006dup, NW_003315947.1:g.393995_394006dup

Select item 14914406079.

rs1491440607 has merged into rs56105490 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT [Show Flanks]
Chromosome:: 17:64653480 (GRCh38)
17:62649598 (GRCh37)
Canonical SPDI:: NC_000017.11:64653472:TTTTTTTTTTT:TTTTTTT,NC_000017.11:64653472:TTTTTTTTTTT:TTTTTTTTT,NC_000017.11:64653472:TTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:64653472:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: SMURF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.04356/730 (TOMMO)
T=0.06809/341 (1000Genomes)
T=0.11824/118 (GoNL)
T=0.1274/491 (ALSPAC)
T=0.14078/522 (TWINSUK)
T=0.175/7 (GENOME_DK)
T=0.215/129 (NorthernSweden)
HGVS:: NC_000017.11:g.64653480_64653483del, NC_000017.11:g.64653482_64653483del, NC_000017.11:g.64653483del, NC_000017.11:g.64653483dup, NC_000017.10:g.62649598_62649601del, NC_000017.10:g.62649600_62649601del, NC_000017.10:g.62649601del, NC_000017.10:g.62649601dup

Select item 149141711310.

rs1491417113 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:64659537 (GRCh38)
17:62655655 (GRCh37)
Canonical SPDI:: NC_000017.11:64659536:TA:
Gene:: SMURF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.64659537_64659538del, NC_000017.10:g.62655655_62655656del

Select item 149141117911.

rs1491411179 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:64637923 (GRCh38)
17:62634041 (GRCh37)
Canonical SPDI:: NC_000017.11:64637922:CA:
Gene:: SMURF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.64637923_64637924del, NC_000017.10:g.62634041_62634042del, NW_003315947.1:g.441770_441771del

Select item 149123890212.

rs1491238902 has merged into rs1183423380 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 17:64659538 (GRCh38)
17:62655656 (GRCh37)
Canonical SPDI:: NC_000017.11:64659537:AAA:AA,NC_000017.11:64659537:AAA:AAAA
Gene:: SMURF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000017.11:g.64659540del, NC_000017.11:g.64659540dup, NC_000017.10:g.62655658del, NC_000017.10:g.62655658dup

Select item 149121219113.

rs1491212191 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C [Show Flanks]
Chromosome:: 17:64545734 (GRCh38)
17:62541853 (GRCh37)
Canonical SPDI:: NC_000017.11:64545734::A,NC_000017.11:64545734::C
Gene:: SMURF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00685/126 (GnomAD)
HGVS:: NC_000017.11:g.64545734_64545735insA, NC_000017.11:g.64545734_64545735insC, NC_000017.10:g.62541852_62541853insA, NC_000017.10:g.62541852_62541853insC, NW_003315947.1:g.349581_349582insA, NW_003315947.1:g.349581_349582insC, NM_022739.4:c.*113_*114insT, NM_022739.4:c.*113_*114insG, NM_022739.3:c.*113_*114insT, NM_022739.3:c.*113_*114insG, XM_005257585.4:c.*113_*114insT, XM_005257585.4:c.*113_*114insG, XM_005257585.3:c.*113_*114insT, XM_005257585.3:c.*113_*114insG, XM_005257585.2:c.*113_*114insT, XM_005257585.2:c.*113_*114insG, XM_005257585.1:c.*113_*114insT, XM_005257585.1:c.*113_*114insG, XM_047436546.1:c.*113_*114insT, XM_047436546.1:c.*113_*114insG

Select item 149114642114.

rs1491146421 has merged into rs57165402 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA,TAATA,TAATTA,TTA [Show Flanks]
Chromosome:: 17:64621986 (GRCh38)
17:62618105 (GRCh37)
Canonical SPDI:: NC_000017.11:64621986:A:ATA,NC_000017.11:64621986:A:ATAATA,NC_000017.11:64621986:A:ATAATTA,NC_000017.11:64621986:A:ATTA
Gene:: SMURF2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAATA=0./0 (ALFA)
AT=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.64621987_64621988insTA, NC_000017.11:g.64621987_64621988insTAATA, NC_000017.11:g.64621987_64621988insTAATTA, NC_000017.11:g.64621987_64621988insTTA, NC_000017.10:g.62618105_62618106insTA, NC_000017.10:g.62618105_62618106insTAATA, NC_000017.10:g.62618105_62618106insTAATTA, NC_000017.10:g.62618105_62618106insTTA, NW_003315947.1:g.425834_425835insTA, NW_003315947.1:g.425834_425835insTAATA, NW_003315947.1:g.425834_425835insTAATTA, NW_003315947.1:g.425834_425835insTTA

Select item 149114425015.

rs1491144250 has merged into rs375759315 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:64588101 (GRCh38)
17:62584219 (GRCh37)
Canonical SPDI:: NC_000017.11:64588091:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:64588091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:64588091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:64588091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:64588091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:64588091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:64588091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:64588091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:64588091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:64588091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64588091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64588091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64588091:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMURF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.19149/959 (1000Genomes)
HGVS:: NC_000017.11:g.64588101_64588109del, NC_000017.11:g.64588103_64588109del, NC_000017.11:g.64588104_64588109del, NC_000017.11:g.64588106_64588109del, NC_000017.11:g.64588107_64588109del, NC_000017.11:g.64588108_64588109del, NC_000017.11:g.64588109del, NC_000017.11:g.64588109dup, NC_000017.11:g.64588108_64588109dup, NC_000017.11:g.64588106_64588109dup, NC_000017.11:g.64588105_64588109dup, NC_000017.11:g.64588104_64588109dup, NC_000017.11:g.64588102_64588109dup, NC_000017.10:g.62584219_62584227del, NC_000017.10:g.62584221_62584227del, NC_000017.10:g.62584222_62584227del, NC_000017.10:g.62584224_62584227del, NC_000017.10:g.62584225_62584227del, NC_000017.10:g.62584226_62584227del, NC_000017.10:g.62584227del, NC_000017.10:g.62584227dup, NC_000017.10:g.62584226_62584227dup, NC_000017.10:g.62584224_62584227dup, NC_000017.10:g.62584223_62584227dup, NC_000017.10:g.62584222_62584227dup, NC_000017.10:g.62584220_62584227dup, NW_003315947.1:g.391948_391956del, NW_003315947.1:g.391950_391956del, NW_003315947.1:g.391951_391956del, NW_003315947.1:g.391953_391956del, NW_003315947.1:g.391954_391956del, NW_003315947.1:g.391955_391956del, NW_003315947.1:g.391956del, NW_003315947.1:g.391956dup, NW_003315947.1:g.391955_391956dup, NW_003315947.1:g.391953_391956dup, NW_003315947.1:g.391952_391956dup, NW_003315947.1:g.391951_391956dup, NW_003315947.1:g.391949_391956dup

Select item 149111766716.

rs1491117667 has merged into rs61060865 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 17:64613691 (GRCh38)
17:62609809 (GRCh37)
Canonical SPDI:: NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:64613673:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: SMURF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000017.11:g.64613675TG[8], NC_000017.11:g.64613675TG[11], NC_000017.11:g.64613675TG[14], NC_000017.11:g.64613675TG[15], NC_000017.11:g.64613675TG[16], NC_000017.11:g.64613675TG[17], NC_000017.11:g.64613675TG[18], NC_000017.11:g.64613675TG[19], NC_000017.11:g.64613675TG[20], NC_000017.11:g.64613675TG[21], NC_000017.11:g.64613675TG[22], NC_000017.11:g.64613675TG[23], NC_000017.11:g.64613675TG[24], NC_000017.11:g.64613675TG[25], NC_000017.11:g.64613675TG[26], NC_000017.11:g.64613675TG[27], NC_000017.11:g.64613675TG[28], NC_000017.11:g.64613675TG[29], NC_000017.11:g.64613675TG[30], NC_000017.11:g.64613675TG[31], NC_000017.11:g.64613675TG[32], NC_000017.11:g.64613675TG[33], NC_000017.11:g.64613675TG[34], NC_000017.11:g.64613675TG[36], NC_000017.11:g.64613675TG[37], NC_000017.11:g.64613675TG[38], NC_000017.11:g.64613675TG[39], NC_000017.11:g.64613675TG[40], NC_000017.11:g.64613675TG[41], NC_000017.11:g.64613675TG[42], NC_000017.11:g.64613675TG[43], NC_000017.11:g.64613675TG[44], NC_000017.11:g.64613675TG[45], NC_000017.11:g.64613675TG[46], NC_000017.10:g.62609793TG[8], NC_000017.10:g.62609793TG[11], NC_000017.10:g.62609793TG[14], NC_000017.10:g.62609793TG[15], NC_000017.10:g.62609793TG[16], NC_000017.10:g.62609793TG[17], NC_000017.10:g.62609793TG[18], NC_000017.10:g.62609793TG[19], NC_000017.10:g.62609793TG[20], NC_000017.10:g.62609793TG[21], NC_000017.10:g.62609793TG[22], NC_000017.10:g.62609793TG[23], NC_000017.10:g.62609793TG[24], NC_000017.10:g.62609793TG[25], NC_000017.10:g.62609793TG[26], NC_000017.10:g.62609793TG[27], NC_000017.10:g.62609793TG[28], NC_000017.10:g.62609793TG[29], NC_000017.10:g.62609793TG[30], NC_000017.10:g.62609793TG[31], NC_000017.10:g.62609793TG[32], NC_000017.10:g.62609793TG[33], NC_000017.10:g.62609793TG[34], NC_000017.10:g.62609793TG[36], NC_000017.10:g.62609793TG[37], NC_000017.10:g.62609793TG[38], NC_000017.10:g.62609793TG[39], NC_000017.10:g.62609793TG[40], NC_000017.10:g.62609793TG[41], NC_000017.10:g.62609793TG[42], NC_000017.10:g.62609793TG[43], NC_000017.10:g.62609793TG[44], NC_000017.10:g.62609793TG[45], NC_000017.10:g.62609793TG[46], NW_003315947.1:g.417522TG[8], NW_003315947.1:g.417522TG[11], NW_003315947.1:g.417522TG[14], NW_003315947.1:g.417522TG[15], NW_003315947.1:g.417522TG[16], NW_003315947.1:g.417522TG[17], NW_003315947.1:g.417522TG[18], NW_003315947.1:g.417522TG[19], NW_003315947.1:g.417522TG[20], NW_003315947.1:g.417522TG[21], NW_003315947.1:g.417522TG[22], NW_003315947.1:g.417522TG[23], NW_003315947.1:g.417522TG[24], NW_003315947.1:g.417522TG[25], NW_003315947.1:g.417522TG[26], NW_003315947.1:g.417522TG[27], NW_003315947.1:g.417522TG[28], NW_003315947.1:g.417522TG[29], NW_003315947.1:g.417522TG[30], NW_003315947.1:g.417522TG[31], NW_003315947.1:g.417522TG[32], NW_003315947.1:g.417522TG[33], NW_003315947.1:g.417522TG[34], NW_003315947.1:g.417522TG[36], NW_003315947.1:g.417522TG[37], NW_003315947.1:g.417522TG[38], NW_003315947.1:g.417522TG[39], NW_003315947.1:g.417522TG[40], NW_003315947.1:g.417522TG[41], NW_003315947.1:g.417522TG[42], NW_003315947.1:g.417522TG[43], NW_003315947.1:g.417522TG[44], NW_003315947.1:g.417522TG[45], NW_003315947.1:g.417522TG[46]

Select item 149109720517.

rs1491097205 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTT,GTT [Show Flanks]
Chromosome:: 17:64566562 (GRCh38)
17:62562681 (GRCh37)
Canonical SPDI:: NC_000017.11:64566562:TT:TTGGTT,NC_000017.11:64566562:TT:TTGTT
Gene:: SMURF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGGTT=0.00051/6 (ALFA)
TTGG=0.00663/84 (TOMMO)
HGVS:: NC_000017.11:g.64566564_64566565insGGTT, NC_000017.11:g.64566564_64566565insGTT, NC_000017.10:g.62562682_62562683insGGTT, NC_000017.10:g.62562682_62562683insGTT, NW_003315947.1:g.370411_370412insGGTT, NW_003315947.1:g.370411_370412insGTT

Select item 149107392918.

rs1491073929 has merged into rs1312754336 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 17:64577612 (GRCh38)
17:62573730 (GRCh37)
Canonical SPDI:: NC_000017.11:64577598:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000017.11:64577598:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000017.11:64577598:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000017.11:64577598:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA
Gene:: SMURF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.00096/16 (TOMMO)
-=0.00167/1 (NorthernSweden)
-=0.00218/4 (Korea1K)
HGVS:: NC_000017.11:g.64577600GA[6], NC_000017.11:g.64577600GA[7], NC_000017.11:g.64577600GA[9], NC_000017.11:g.64577600GA[10], NC_000017.10:g.62573718GA[6], NC_000017.10:g.62573718GA[7], NC_000017.10:g.62573718GA[9], NC_000017.10:g.62573718GA[10], NW_003315947.1:g.381447GA[6], NW_003315947.1:g.381447GA[7], NW_003315947.1:g.381447GA[9], NW_003315947.1:g.381447GA[10]

Select item 149105714919.

rs1491057149 has merged into rs146307567 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:64550764 (GRCh38)
17:62546882 (GRCh37)
Canonical SPDI:: NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:64550757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMURF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.64550764_64550777del, NC_000017.11:g.64550766_64550777del, NC_000017.11:g.64550767_64550777del, NC_000017.11:g.64550768_64550777del, NC_000017.11:g.64550769_64550777del, NC_000017.11:g.64550770_64550777del, NC_000017.11:g.64550771_64550777del, NC_000017.11:g.64550772_64550777del, NC_000017.11:g.64550773_64550777del, NC_000017.11:g.64550774_64550777del, NC_000017.11:g.64550775_64550777del, NC_000017.11:g.64550776_64550777del, NC_000017.11:g.64550777del, NC_000017.11:g.64550777dup, NC_000017.11:g.64550776_64550777dup, NC_000017.11:g.64550775_64550777dup, NC_000017.11:g.64550774_64550777dup, NC_000017.11:g.64550773_64550777dup, NC_000017.11:g.64550772_64550777dup, NC_000017.11:g.64550771_64550777dup, NC_000017.11:g.64550770_64550777dup, NC_000017.11:g.64550769_64550777dup, NC_000017.11:g.64550768_64550777dup, NC_000017.11:g.64550767_64550777dup, NC_000017.10:g.62546882_62546895del, NC_000017.10:g.62546884_62546895del, NC_000017.10:g.62546885_62546895del, NC_000017.10:g.62546886_62546895del, NC_000017.10:g.62546887_62546895del, NC_000017.10:g.62546888_62546895del, NC_000017.10:g.62546889_62546895del, NC_000017.10:g.62546890_62546895del, NC_000017.10:g.62546891_62546895del, NC_000017.10:g.62546892_62546895del, NC_000017.10:g.62546893_62546895del, NC_000017.10:g.62546894_62546895del, NC_000017.10:g.62546895del, NC_000017.10:g.62546895dup, NC_000017.10:g.62546894_62546895dup, NC_000017.10:g.62546893_62546895dup, NC_000017.10:g.62546892_62546895dup, NC_000017.10:g.62546891_62546895dup, NC_000017.10:g.62546890_62546895dup, NC_000017.10:g.62546889_62546895dup, NC_000017.10:g.62546888_62546895dup, NC_000017.10:g.62546887_62546895dup, NC_000017.10:g.62546886_62546895dup, NC_000017.10:g.62546885_62546895dup, NW_003315947.1:g.354611_354624del, NW_003315947.1:g.354613_354624del, NW_003315947.1:g.354614_354624del, NW_003315947.1:g.354615_354624del, NW_003315947.1:g.354616_354624del, NW_003315947.1:g.354617_354624del, NW_003315947.1:g.354618_354624del, NW_003315947.1:g.354619_354624del, NW_003315947.1:g.354620_354624del, NW_003315947.1:g.354621_354624del, NW_003315947.1:g.354622_354624del, NW_003315947.1:g.354623_354624del, NW_003315947.1:g.354624del, NW_003315947.1:g.354624dup, NW_003315947.1:g.354623_354624dup, NW_003315947.1:g.354622_354624dup, NW_003315947.1:g.354621_354624dup, NW_003315947.1:g.354620_354624dup, NW_003315947.1:g.354619_354624dup, NW_003315947.1:g.354618_354624dup, NW_003315947.1:g.354617_354624dup, NW_003315947.1:g.354616_354624dup, NW_003315947.1:g.354615_354624dup, NW_003315947.1:g.354614_354624dup

Select item 149105457820.

rs1491054578 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:64588110 (GRCh38)
17:62584228 (GRCh37)
Canonical SPDI:: NC_000017.11:64588108:AGA:A
Gene:: SMURF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.64588110_64588111del, NC_000017.10:g.62584228_62584229del, NW_003315947.1:g.391957_391958del

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