SNP Links for Nucleotide (Select 193290095) - SNP

Links from Nucleotide

Items: 1 to 20 of 3780

<< First< Prev

Page of 189

Next >Last >>

Select item 14913441671.

rs1491344167 has merged into rs56291639 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:55996011 (GRCh38)
12:56389795 (GRCh37)
Canonical SPDI:: NC_000012.12:55996003:TTTTTTTTTT:TTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:55996003:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RAB5B (Varview), SUOX (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.55996011_55996013del, NC_000012.12:g.55996012_55996013del, NC_000012.12:g.55996013del, NC_000012.12:g.55996013dup, NC_000012.12:g.55996012_55996013dup, NC_000012.12:g.55996011_55996013dup, NC_000012.12:g.55996010_55996013dup, NC_000012.12:g.55996009_55996013dup, NC_000012.12:g.55996008_55996013dup, NC_000012.12:g.55996007_55996013dup, NC_000012.12:g.55996006_55996013dup, NC_000012.12:g.55996005_55996013dup, NC_000012.12:g.55996004_55996013dup, NC_000012.12:g.55996013_55996014insTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.55996013_55996014insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56389795_56389797del, NC_000012.11:g.56389796_56389797del, NC_000012.11:g.56389797del, NC_000012.11:g.56389797dup, NC_000012.11:g.56389796_56389797dup, NC_000012.11:g.56389795_56389797dup, NC_000012.11:g.56389794_56389797dup, NC_000012.11:g.56389793_56389797dup, NC_000012.11:g.56389792_56389797dup, NC_000012.11:g.56389791_56389797dup, NC_000012.11:g.56389790_56389797dup, NC_000012.11:g.56389789_56389797dup, NC_000012.11:g.56389788_56389797dup, NC_000012.11:g.56389797_56389798insTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.56389797_56389798insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008136.1:g.3753_3755del, NG_008136.1:g.3754_3755del, NG_008136.1:g.3755del, NG_008136.1:g.3755dup, NG_008136.1:g.3754_3755dup, NG_008136.1:g.3753_3755dup, NG_008136.1:g.3752_3755dup, NG_008136.1:g.3751_3755dup, NG_008136.1:g.3750_3755dup, NG_008136.1:g.3749_3755dup, NG_008136.1:g.3748_3755dup, NG_008136.1:g.3747_3755dup, NG_008136.1:g.3746_3755dup, NG_008136.1:g.3755_3756insTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008136.1:g.3755_3756insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_005269051.4:c.*3799_*3801del, XM_005269051.4:c.*3800_*3801del, XM_005269051.4:c.*3801del, XM_005269051.4:c.*3801dup, XM_005269051.4:c.*3800_*3801dup, XM_005269051.4:c.*3799_*3801dup, XM_005269051.4:c.*3798_*3801dup, XM_005269051.4:c.*3797_*3801dup, XM_005269051.4:c.*3796_*3801dup, XM_005269051.4:c.*3795_*3801dup, XM_005269051.4:c.*3794_*3801dup, XM_005269051.4:c.*3793_*3801dup, XM_005269051.4:c.*3792_*3801dup, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_005269051.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_005269051.2:c.*3799_*3801del, XM_005269051.2:c.*3800_*3801del, XM_005269051.2:c.*3801del, XM_005269051.2:c.*3801dup, XM_005269051.2:c.*3800_*3801dup, XM_005269051.2:c.*3799_*3801dup, XM_005269051.2:c.*3798_*3801dup, XM_005269051.2:c.*3797_*3801dup, XM_005269051.2:c.*3796_*3801dup, XM_005269051.2:c.*3795_*3801dup, XM_005269051.2:c.*3794_*3801dup, XM_005269051.2:c.*3793_*3801dup, XM_005269051.2:c.*3792_*3801dup, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_005269051.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_002868.4:c.*3799_*3801del, NM_002868.4:c.*3800_*3801del, NM_002868.4:c.*3801del, NM_002868.4:c.*3801dup, NM_002868.4:c.*3800_*3801dup, NM_002868.4:c.*3799_*3801dup, NM_002868.4:c.*3798_*3801dup, NM_002868.4:c.*3797_*3801dup, NM_002868.4:c.*3796_*3801dup, NM_002868.4:c.*3795_*3801dup, NM_002868.4:c.*3794_*3801dup, NM_002868.4:c.*3793_*3801dup, NM_002868.4:c.*3792_*3801dup, NM_002868.4:c.*3801_*3802insTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_002868.4:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_002868.3:c.*3799_*3801del, NM_002868.3:c.*3800_*3801del, NM_002868.3:c.*3801del, NM_002868.3:c.*3801dup, NM_002868.3:c.*3800_*3801dup, NM_002868.3:c.*3799_*3801dup, NM_002868.3:c.*3798_*3801dup, NM_002868.3:c.*3797_*3801dup, NM_002868.3:c.*3796_*3801dup, NM_002868.3:c.*3795_*3801dup, NM_002868.3:c.*3794_*3801dup, NM_002868.3:c.*3793_*3801dup, NM_002868.3:c.*3792_*3801dup, NM_002868.3:c.*3801_*3802insTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_002868.3:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001252036.2:c.*3799_*3801del, NM_001252036.2:c.*3800_*3801del, NM_001252036.2:c.*3801del, NM_001252036.2:c.*3801dup, NM_001252036.2:c.*3800_*3801dup, NM_001252036.2:c.*3799_*3801dup, NM_001252036.2:c.*3798_*3801dup, NM_001252036.2:c.*3797_*3801dup, NM_001252036.2:c.*3796_*3801dup, NM_001252036.2:c.*3795_*3801dup, NM_001252036.2:c.*3794_*3801dup, NM_001252036.2:c.*3793_*3801dup, NM_001252036.2:c.*3792_*3801dup, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001252036.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001252036.1:c.*3799_*3801del, NM_001252036.1:c.*3800_*3801del, NM_001252036.1:c.*3801del, NM_001252036.1:c.*3801dup, NM_001252036.1:c.*3800_*3801dup, NM_001252036.1:c.*3799_*3801dup, NM_001252036.1:c.*3798_*3801dup, NM_001252036.1:c.*3797_*3801dup, NM_001252036.1:c.*3796_*3801dup, NM_001252036.1:c.*3795_*3801dup, NM_001252036.1:c.*3794_*3801dup, NM_001252036.1:c.*3793_*3801dup, NM_001252036.1:c.*3792_*3801dup, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001252036.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001252037.2:c.*3799_*3801del, NM_001252037.2:c.*3800_*3801del, NM_001252037.2:c.*3801del, NM_001252037.2:c.*3801dup, NM_001252037.2:c.*3800_*3801dup, NM_001252037.2:c.*3799_*3801dup, NM_001252037.2:c.*3798_*3801dup, NM_001252037.2:c.*3797_*3801dup, NM_001252037.2:c.*3796_*3801dup, NM_001252037.2:c.*3795_*3801dup, NM_001252037.2:c.*3794_*3801dup, NM_001252037.2:c.*3793_*3801dup, NM_001252037.2:c.*3792_*3801dup, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001252037.2:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001252037.1:c.*3799_*3801del, NM_001252037.1:c.*3800_*3801del, NM_001252037.1:c.*3801del, NM_001252037.1:c.*3801dup, NM_001252037.1:c.*3800_*3801dup, NM_001252037.1:c.*3799_*3801dup, NM_001252037.1:c.*3798_*3801dup, NM_001252037.1:c.*3797_*3801dup, NM_001252037.1:c.*3796_*3801dup, NM_001252037.1:c.*3795_*3801dup, NM_001252037.1:c.*3794_*3801dup, NM_001252037.1:c.*3793_*3801dup, NM_001252037.1:c.*3792_*3801dup, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001252037.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047429281.1:c.*3799_*3801del, XM_047429281.1:c.*3800_*3801del, XM_047429281.1:c.*3801del, XM_047429281.1:c.*3801dup, XM_047429281.1:c.*3800_*3801dup, XM_047429281.1:c.*3799_*3801dup, XM_047429281.1:c.*3798_*3801dup, XM_047429281.1:c.*3797_*3801dup, XM_047429281.1:c.*3796_*3801dup, XM_047429281.1:c.*3795_*3801dup, XM_047429281.1:c.*3794_*3801dup, XM_047429281.1:c.*3793_*3801dup, XM_047429281.1:c.*3792_*3801dup, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047429281.1:c.*3801_*3802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912749162.

rs1491274916 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATGGGG [Show Flanks]
Chromosome:: 12:56001142 (GRCh38)
12:56394927 (GRCh37)
Canonical SPDI:: NC_000012.12:56001142::TATGGGG
Gene:: SUOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TATGGGG=0.00006/1 (TOMMO)
HGVS:: NC_000012.12:g.56001142_56001143insTATGGGG, NC_000012.11:g.56394926_56394927insTATGGGG, NG_008136.1:g.8884_8885insTATGGGG

Select item 14911978503.

rs1491197850 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:56001142 (GRCh38)
12:56394926 (GRCh37)
Canonical SPDI:: NC_000012.12:56001141:TG:
Gene:: SUOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.003372/40 (ALFA)
-=0.000127/14 (GnomAD)
-=0.00172/48 (TOMMO)
HGVS:: NC_000012.12:g.56001142_56001143del, NC_000012.11:g.56394926_56394927del, NG_008136.1:g.8884_8885del

Select item 14907377084.

rs1490737708 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 12:56005116 (GRCh38)
12:56398900 (GRCh37)
Canonical SPDI:: NC_000012.12:56005115:C:
Gene:: SUOX (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56005116del, NC_000012.11:g.56398900del, NG_008136.1:g.12858del, NM_000456.3:c.*89del, NM_000456.2:c.*89del, NM_001032386.2:c.*89del, NM_001032386.1:c.*89del, NM_001032387.2:c.*89del, NM_001032387.1:c.*89del

Select item 14905986845.

rs1490598684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55996774 (GRCh38)
12:56390558 (GRCh37)
Canonical SPDI:: NC_000012.12:55996773:T:C
Gene:: RAB5B (Varview), SUOX (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000106/2 (TOMMO)
C=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.55996774T>C, NC_000012.11:g.56390558T>C, NG_008136.1:g.4516T>C

Select item 14897216646.

rs1489721664 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56000720 (GRCh38)
12:56394504 (GRCh37)
Canonical SPDI:: NC_000012.12:56000719:A:G
Gene:: SUOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.56000720A>G, NC_000012.11:g.56394504A>G, NG_008136.1:g.8462A>G

Select item 14892679497.

rs1489267949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:56002328 (GRCh38)
12:56396112 (GRCh37)
Canonical SPDI:: NC_000012.12:56002327:C:A,NC_000012.12:56002327:C:T
Gene:: SUOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.56002328C>A, NC_000012.12:g.56002328C>T, NC_000012.11:g.56396112C>A, NC_000012.11:g.56396112C>T, NG_008136.1:g.10070C>A, NG_008136.1:g.10070C>T

Select item 14891885638.

rs1489188563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:55998441 (GRCh38)
12:56392225 (GRCh37)
Canonical SPDI:: NC_000012.12:55998440:G:C
Gene:: SUOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.55998441G>C, NC_000012.11:g.56392225G>C, NG_008136.1:g.6183G>C

Select item 14890822989.

rs1489082298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:55999666 (GRCh38)
12:56393450 (GRCh37)
Canonical SPDI:: NC_000012.12:55999665:G:A,NC_000012.12:55999665:G:T
Gene:: SUOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.55999666G>A, NC_000012.12:g.55999666G>T, NC_000012.11:g.56393450G>A, NC_000012.11:g.56393450G>T, NG_008136.1:g.7408G>A, NG_008136.1:g.7408G>T

Select item 148908119010.

rs1489081190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56001964 (GRCh38)
12:56395748 (GRCh37)
Canonical SPDI:: NC_000012.12:56001963:G:A
Gene:: SUOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.56001964G>A, NC_000012.11:g.56395748G>A, NG_008136.1:g.9706G>A

Select item 148895206711.

rs1488952067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:55994828 (GRCh38)
12:56388612 (GRCh37)
Canonical SPDI:: NC_000012.12:55994827:C:T
Gene:: RAB5B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.55994828C>T, NC_000012.11:g.56388612C>T, NG_008136.1:g.2570C>T, XM_005269051.4:c.*2616C>T, XM_005269051.2:c.*2616C>T, NM_002868.4:c.*2616C>T, NM_002868.3:c.*2616C>T, NM_001252036.2:c.*2616C>T, NM_001252036.1:c.*2616C>T, NM_001252037.2:c.*2616C>T, NM_001252037.1:c.*2616C>T, XM_047429281.1:c.*2616C>T

Select item 148870854412.

rs1488708544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56006486 (GRCh38)
12:56400270 (GRCh37)
Canonical SPDI:: NC_000012.12:56006485:G:A
Gene:: IKZF4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000042/11 (TOPMED)
HGVS:: NC_000012.12:g.56006486G>A, NC_000012.11:g.56400270G>A, NG_008136.1:g.14228G>A

Select item 148861084413.

rs1488610844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:55995998 (GRCh38)
12:56389782 (GRCh37)
Canonical SPDI:: NC_000012.12:55995997:T:C
Gene:: RAB5B (Varview), SUOX (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55995998T>C, NC_000012.11:g.56389782T>C, NG_008136.1:g.3740T>C, XM_005269051.4:c.*3786T>C, XM_005269051.2:c.*3786T>C, NM_002868.4:c.*3786T>C, NM_002868.3:c.*3786T>C, NM_001252036.2:c.*3786T>C, NM_001252036.1:c.*3786T>C, NM_001252037.2:c.*3786T>C, NM_001252037.1:c.*3786T>C, XM_047429281.1:c.*3786T>C

Select item 148852942814.

rs1488529428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56006961 (GRCh38)
12:56400745 (GRCh37)
Canonical SPDI:: NC_000012.12:56006960:G:A
Gene:: IKZF4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56006961G>A, NC_000012.11:g.56400745G>A, NG_008136.1:g.14703G>A

Select item 148839991115.

rs1488399911 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:56007455 (GRCh38)
12:56401239 (GRCh37)
Canonical SPDI:: NC_000012.12:56007454:A:
Gene:: IKZF4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.000036/1 (TOMMO)
HGVS:: NC_000012.12:g.56007455del, NC_000012.11:g.56401239del, NG_008136.1:g.15197del

Select item 148834329816.

rs1488343298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:55992991 (GRCh38)
12:56386775 (GRCh37)
Canonical SPDI:: NC_000012.12:55992990:C:G,NC_000012.12:55992990:C:T
Gene:: RAB5B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.55992991C>G, NC_000012.12:g.55992991C>T, NC_000012.11:g.56386775C>G, NC_000012.11:g.56386775C>T, NG_008136.1:g.733C>G, NG_008136.1:g.733C>T, XM_005269051.4:c.*779C>G, XM_005269051.4:c.*779C>T, XM_005269051.3:c.*779C>G, XM_005269051.3:c.*779C>T, XM_005269051.2:c.*779C>G, XM_005269051.2:c.*779C>T, XM_005269051.1:c.*779C>G, XM_005269051.1:c.*779C>T, NM_002868.4:c.*779C>G, NM_002868.4:c.*779C>T, NM_002868.3:c.*779C>G, NM_002868.3:c.*779C>T, NM_001252036.2:c.*779C>G, NM_001252036.2:c.*779C>T, NM_001252036.1:c.*779C>G, NM_001252036.1:c.*779C>T, NM_001252037.2:c.*779C>G, NM_001252037.2:c.*779C>T, NM_001252037.1:c.*779C>G, NM_001252037.1:c.*779C>T, XM_047429281.1:c.*779C>G, XM_047429281.1:c.*779C>T

Select item 148831460817.

rs1488314608 [Homo sapiens]

Variant type:: DEL
Alleles:: ATATATA>- [Show Flanks]
Chromosome:: 12:55995993 (GRCh38)
12:56389777 (GRCh37)
Canonical SPDI:: NC_000012.12:55995992:ATATATA:
Gene:: RAB5B (Varview), SUOX (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000019/2 (GnomAD)
HGVS:: NC_000012.12:g.55995993_55995999del, NC_000012.11:g.56389777_56389783del, NG_008136.1:g.3735_3741del, XM_005269051.4:c.*3781_*3787del, XM_005269051.2:c.*3781_*3787del, NM_002868.4:c.*3781_*3787del, NM_002868.3:c.*3781_*3787del, NM_001252036.2:c.*3781_*3787del, NM_001252036.1:c.*3781_*3787del, NM_001252037.2:c.*3781_*3787del, NM_001252037.1:c.*3781_*3787del, XM_047429281.1:c.*3781_*3787del

Select item 148808591118.

rs1488085911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:56006337 (GRCh38)
12:56400121 (GRCh37)
Canonical SPDI:: NC_000012.12:56006336:A:T
Gene:: IKZF4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00472/56 (ALFA)
T=0.00021/6 (TOMMO)
T=0.00507/9 (Korea1K)
T=0.04352/127 (KOREAN)
HGVS:: NC_000012.12:g.56006337A>T, NC_000012.11:g.56400121A>T, NG_008136.1:g.14079A>T

Select item 148772789319.

rs1487727893 has merged into rs557573410 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 12:55995899 (GRCh38)
12:56389683 (GRCh37)
Canonical SPDI:: NC_000012.12:55995889:TTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:55995889:TTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:55995889:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:55995889:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:55995889:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: RAB5B (Varview), SUOX (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.55995899_55995901del, NC_000012.12:g.55995900_55995901del, NC_000012.12:g.55995901del, NC_000012.12:g.55995901dup, NC_000012.12:g.55995900_55995901dup, NC_000012.11:g.56389683_56389685del, NC_000012.11:g.56389684_56389685del, NC_000012.11:g.56389685del, NC_000012.11:g.56389685dup, NC_000012.11:g.56389684_56389685dup, NG_008136.1:g.3641_3643del, NG_008136.1:g.3642_3643del, NG_008136.1:g.3643del, NG_008136.1:g.3643dup, NG_008136.1:g.3642_3643dup, XM_005269051.4:c.*3687_*3689del, XM_005269051.4:c.*3688_*3689del, XM_005269051.4:c.*3689del, XM_005269051.4:c.*3689dup, XM_005269051.4:c.*3688_*3689dup, XM_005269051.2:c.*3687_*3689del, XM_005269051.2:c.*3688_*3689del, XM_005269051.2:c.*3689del, XM_005269051.2:c.*3689dup, XM_005269051.2:c.*3688_*3689dup, NM_002868.4:c.*3687_*3689del, NM_002868.4:c.*3688_*3689del, NM_002868.4:c.*3689del, NM_002868.4:c.*3689dup, NM_002868.4:c.*3688_*3689dup, NM_002868.3:c.*3687_*3689del, NM_002868.3:c.*3688_*3689del, NM_002868.3:c.*3689del, NM_002868.3:c.*3689dup, NM_002868.3:c.*3688_*3689dup, NM_001252036.2:c.*3687_*3689del, NM_001252036.2:c.*3688_*3689del, NM_001252036.2:c.*3689del, NM_001252036.2:c.*3689dup, NM_001252036.2:c.*3688_*3689dup, NM_001252036.1:c.*3687_*3689del, NM_001252036.1:c.*3688_*3689del, NM_001252036.1:c.*3689del, NM_001252036.1:c.*3689dup, NM_001252036.1:c.*3688_*3689dup, NM_001252037.2:c.*3687_*3689del, NM_001252037.2:c.*3688_*3689del, NM_001252037.2:c.*3689del, NM_001252037.2:c.*3689dup, NM_001252037.2:c.*3688_*3689dup, NM_001252037.1:c.*3687_*3689del, NM_001252037.1:c.*3688_*3689del, NM_001252037.1:c.*3689del, NM_001252037.1:c.*3689dup, NM_001252037.1:c.*3688_*3689dup, XM_047429281.1:c.*3687_*3689del, XM_047429281.1:c.*3688_*3689del, XM_047429281.1:c.*3689del, XM_047429281.1:c.*3689dup, XM_047429281.1:c.*3688_*3689dup

Select item 148712353620.

rs1487123536 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:56003264 (GRCh38)
12:56397048 (GRCh37)
Canonical SPDI:: NC_000012.12:56003262:TCT:T
Gene:: SUOX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.56003264_56003265del, NC_000012.11:g.56397048_56397049del, NG_008136.1:g.11006_11007del

<< First< Prev

Page of 189

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 3780

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity