SNP Links for Gene (Select 54897) - SNP

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Select item 14915738051.

rs1491573805 has merged into rs58517587 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 1:10681211 (GRCh38)
1:10741268 (GRCh37)
Canonical SPDI:: NC_000001.11:10681200:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:10681200:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:10681200:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:10681200:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:10681200:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: CASZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.03177/19 (NorthernSweden)
HGVS:: NC_000001.11:g.10681211_10681213del, NC_000001.11:g.10681212_10681213del, NC_000001.11:g.10681213del, NC_000001.11:g.10681213dup, NC_000001.11:g.10681212_10681213dup, NC_000001.10:g.10741268_10741270del, NC_000001.10:g.10741269_10741270del, NC_000001.10:g.10741270del, NC_000001.10:g.10741270dup, NC_000001.10:g.10741269_10741270dup

Select item 14915685692.

rs1491568569 has merged into rs59054467 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:10636666 (GRCh38)
1:10696723 (GRCh37)
Canonical SPDI:: NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CASZ1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.10636666_10636672del, NC_000001.11:g.10636668_10636672del, NC_000001.11:g.10636669_10636672del, NC_000001.11:g.10636670_10636672del, NC_000001.11:g.10636671_10636672del, NC_000001.11:g.10636672del, NC_000001.11:g.10636672dup, NC_000001.11:g.10636671_10636672dup, NC_000001.11:g.10636670_10636672dup, NC_000001.11:g.10636669_10636672dup, NC_000001.11:g.10636659_10636672dup, NC_000001.11:g.10636658_10636672dup, NC_000001.10:g.10696723_10696729del, NC_000001.10:g.10696725_10696729del, NC_000001.10:g.10696726_10696729del, NC_000001.10:g.10696727_10696729del, NC_000001.10:g.10696728_10696729del, NC_000001.10:g.10696729del, NC_000001.10:g.10696729dup, NC_000001.10:g.10696728_10696729dup, NC_000001.10:g.10696727_10696729dup, NC_000001.10:g.10696726_10696729dup, NC_000001.10:g.10696716_10696729dup, NC_000001.10:g.10696715_10696729dup, XM_005263479.4:c.*2280_*2286del, XM_005263479.4:c.*2282_*2286del, XM_005263479.4:c.*2283_*2286del, XM_005263479.4:c.*2284_*2286del, XM_005263479.4:c.*2285_*2286del, XM_005263479.4:c.*2286del, XM_005263479.4:c.*2286dup, XM_005263479.4:c.*2285_*2286dup, XM_005263479.4:c.*2284_*2286dup, XM_005263479.4:c.*2283_*2286dup, XM_005263479.4:c.*2273_*2286dup, XM_005263479.4:c.*2272_*2286dup, XM_017001540.3:c.*2280_*2286del, XM_017001540.3:c.*2282_*2286del, XM_017001540.3:c.*2283_*2286del, XM_017001540.3:c.*2284_*2286del, XM_017001540.3:c.*2285_*2286del, XM_017001540.3:c.*2286del, XM_017001540.3:c.*2286dup, XM_017001540.3:c.*2285_*2286dup, XM_017001540.3:c.*2284_*2286dup, XM_017001540.3:c.*2283_*2286dup, XM_017001540.3:c.*2273_*2286dup, XM_017001540.3:c.*2272_*2286dup, XM_017001540.1:c.*2280_*2286del, XM_017001540.1:c.*2282_*2286del, XM_017001540.1:c.*2283_*2286del, XM_017001540.1:c.*2284_*2286del, XM_017001540.1:c.*2285_*2286del, XM_017001540.1:c.*2286del, XM_017001540.1:c.*2286dup, XM_017001540.1:c.*2285_*2286dup, XM_017001540.1:c.*2284_*2286dup, XM_017001540.1:c.*2283_*2286dup, XM_017001540.1:c.*2273_*2286dup, XM_017001540.1:c.*2272_*2286dup, XM_017001539.3:c.*2280_*2286del, XM_017001539.3:c.*2282_*2286del, XM_017001539.3:c.*2283_*2286del, XM_017001539.3:c.*2284_*2286del, XM_017001539.3:c.*2285_*2286del, XM_017001539.3:c.*2286del, XM_017001539.3:c.*2286dup, XM_017001539.3:c.*2285_*2286dup, XM_017001539.3:c.*2284_*2286dup, XM_017001539.3:c.*2283_*2286dup, XM_017001539.3:c.*2273_*2286dup, XM_017001539.3:c.*2272_*2286dup, XM_017001539.1:c.*2280_*2286del, XM_017001539.1:c.*2282_*2286del, XM_017001539.1:c.*2283_*2286del, XM_017001539.1:c.*2284_*2286del, XM_017001539.1:c.*2285_*2286del, XM_017001539.1:c.*2286del, XM_017001539.1:c.*2286dup, XM_017001539.1:c.*2285_*2286dup, XM_017001539.1:c.*2284_*2286dup, XM_017001539.1:c.*2283_*2286dup, XM_017001539.1:c.*2273_*2286dup, XM_017001539.1:c.*2272_*2286dup, NM_001079843.3:c.*2280_*2286del, NM_001079843.3:c.*2282_*2286del, NM_001079843.3:c.*2283_*2286del, NM_001079843.3:c.*2284_*2286del, NM_001079843.3:c.*2285_*2286del, NM_001079843.3:c.*2286del, NM_001079843.3:c.*2286dup, NM_001079843.3:c.*2285_*2286dup, NM_001079843.3:c.*2284_*2286dup, NM_001079843.3:c.*2283_*2286dup, NM_001079843.3:c.*2273_*2286dup, NM_001079843.3:c.*2272_*2286dup, NM_001079843.2:c.*2280_*2286del, NM_001079843.2:c.*2282_*2286del, NM_001079843.2:c.*2283_*2286del, NM_001079843.2:c.*2284_*2286del, NM_001079843.2:c.*2285_*2286del, NM_001079843.2:c.*2286del, NM_001079843.2:c.*2286dup, NM_001079843.2:c.*2285_*2286dup, NM_001079843.2:c.*2284_*2286dup, NM_001079843.2:c.*2283_*2286dup, NM_001079843.2:c.*2273_*2286dup, NM_001079843.2:c.*2272_*2286dup, XM_047423404.1:c.*2280_*2286del, XM_047423404.1:c.*2282_*2286del, XM_047423404.1:c.*2283_*2286del, XM_047423404.1:c.*2284_*2286del, XM_047423404.1:c.*2285_*2286del, XM_047423404.1:c.*2286del, XM_047423404.1:c.*2286dup, XM_047423404.1:c.*2285_*2286dup, XM_047423404.1:c.*2284_*2286dup, XM_047423404.1:c.*2283_*2286dup, XM_047423404.1:c.*2273_*2286dup, XM_047423404.1:c.*2272_*2286dup

Select item 14915433993.

rs1491543399 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C,T [Show Flanks]
Chromosome:: 1:10708972 (GRCh38)
1:10769030 (GRCh37)
Canonical SPDI:: NC_000001.11:10708972::A,NC_000001.11:10708972::C,NC_000001.11:10708972::T
Gene:: CASZ1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.10708972_10708973insA, NC_000001.11:g.10708972_10708973insC, NC_000001.11:g.10708972_10708973insT, NC_000001.10:g.10769029_10769030insA, NC_000001.10:g.10769029_10769030insC, NC_000001.10:g.10769029_10769030insT

Select item 14915428964.

rs1491542896 has merged into rs1194066214 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:10658009 (GRCh38)
1:10718066 (GRCh37)
Canonical SPDI:: NC_000001.11:10657996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:10657996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:10657996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:10657996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:10657996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:10657996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:10657996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:10657996:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: CASZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000102/27 (TOPMED)
-=0.003367/2 (NorthernSweden)
HGVS:: NC_000001.11:g.10658009_10658013del, NC_000001.11:g.10658010_10658013del, NC_000001.11:g.10658011_10658013del, NC_000001.11:g.10658012_10658013del, NC_000001.11:g.10658013del, NC_000001.11:g.10658013dup, NC_000001.11:g.10658012_10658013dup, NC_000001.11:g.10658011_10658013dup, NC_000001.10:g.10718066_10718070del, NC_000001.10:g.10718067_10718070del, NC_000001.10:g.10718068_10718070del, NC_000001.10:g.10718069_10718070del, NC_000001.10:g.10718070del, NC_000001.10:g.10718070dup, NC_000001.10:g.10718069_10718070dup, NC_000001.10:g.10718068_10718070dup

Select item 14915375335.

rs1491537533 has merged into rs59054467 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:10636666 (GRCh38)
1:10696723 (GRCh37)
Canonical SPDI:: NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:10636655:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CASZ1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.10636666_10636672del, NC_000001.11:g.10636668_10636672del, NC_000001.11:g.10636669_10636672del, NC_000001.11:g.10636670_10636672del, NC_000001.11:g.10636671_10636672del, NC_000001.11:g.10636672del, NC_000001.11:g.10636672dup, NC_000001.11:g.10636671_10636672dup, NC_000001.11:g.10636670_10636672dup, NC_000001.11:g.10636669_10636672dup, NC_000001.11:g.10636659_10636672dup, NC_000001.11:g.10636658_10636672dup, NC_000001.10:g.10696723_10696729del, NC_000001.10:g.10696725_10696729del, NC_000001.10:g.10696726_10696729del, NC_000001.10:g.10696727_10696729del, NC_000001.10:g.10696728_10696729del, NC_000001.10:g.10696729del, NC_000001.10:g.10696729dup, NC_000001.10:g.10696728_10696729dup, NC_000001.10:g.10696727_10696729dup, NC_000001.10:g.10696726_10696729dup, NC_000001.10:g.10696716_10696729dup, NC_000001.10:g.10696715_10696729dup, XM_005263479.4:c.*2280_*2286del, XM_005263479.4:c.*2282_*2286del, XM_005263479.4:c.*2283_*2286del, XM_005263479.4:c.*2284_*2286del, XM_005263479.4:c.*2285_*2286del, XM_005263479.4:c.*2286del, XM_005263479.4:c.*2286dup, XM_005263479.4:c.*2285_*2286dup, XM_005263479.4:c.*2284_*2286dup, XM_005263479.4:c.*2283_*2286dup, XM_005263479.4:c.*2273_*2286dup, XM_005263479.4:c.*2272_*2286dup, XM_017001540.3:c.*2280_*2286del, XM_017001540.3:c.*2282_*2286del, XM_017001540.3:c.*2283_*2286del, XM_017001540.3:c.*2284_*2286del, XM_017001540.3:c.*2285_*2286del, XM_017001540.3:c.*2286del, XM_017001540.3:c.*2286dup, XM_017001540.3:c.*2285_*2286dup, XM_017001540.3:c.*2284_*2286dup, XM_017001540.3:c.*2283_*2286dup, XM_017001540.3:c.*2273_*2286dup, XM_017001540.3:c.*2272_*2286dup, XM_017001540.1:c.*2280_*2286del, XM_017001540.1:c.*2282_*2286del, XM_017001540.1:c.*2283_*2286del, XM_017001540.1:c.*2284_*2286del, XM_017001540.1:c.*2285_*2286del, XM_017001540.1:c.*2286del, XM_017001540.1:c.*2286dup, XM_017001540.1:c.*2285_*2286dup, XM_017001540.1:c.*2284_*2286dup, XM_017001540.1:c.*2283_*2286dup, XM_017001540.1:c.*2273_*2286dup, XM_017001540.1:c.*2272_*2286dup, XM_017001539.3:c.*2280_*2286del, XM_017001539.3:c.*2282_*2286del, XM_017001539.3:c.*2283_*2286del, XM_017001539.3:c.*2284_*2286del, XM_017001539.3:c.*2285_*2286del, XM_017001539.3:c.*2286del, XM_017001539.3:c.*2286dup, XM_017001539.3:c.*2285_*2286dup, XM_017001539.3:c.*2284_*2286dup, XM_017001539.3:c.*2283_*2286dup, XM_017001539.3:c.*2273_*2286dup, XM_017001539.3:c.*2272_*2286dup, XM_017001539.1:c.*2280_*2286del, XM_017001539.1:c.*2282_*2286del, XM_017001539.1:c.*2283_*2286del, XM_017001539.1:c.*2284_*2286del, XM_017001539.1:c.*2285_*2286del, XM_017001539.1:c.*2286del, XM_017001539.1:c.*2286dup, XM_017001539.1:c.*2285_*2286dup, XM_017001539.1:c.*2284_*2286dup, XM_017001539.1:c.*2283_*2286dup, XM_017001539.1:c.*2273_*2286dup, XM_017001539.1:c.*2272_*2286dup, NM_001079843.3:c.*2280_*2286del, NM_001079843.3:c.*2282_*2286del, NM_001079843.3:c.*2283_*2286del, NM_001079843.3:c.*2284_*2286del, NM_001079843.3:c.*2285_*2286del, NM_001079843.3:c.*2286del, NM_001079843.3:c.*2286dup, NM_001079843.3:c.*2285_*2286dup, NM_001079843.3:c.*2284_*2286dup, NM_001079843.3:c.*2283_*2286dup, NM_001079843.3:c.*2273_*2286dup, NM_001079843.3:c.*2272_*2286dup, NM_001079843.2:c.*2280_*2286del, NM_001079843.2:c.*2282_*2286del, NM_001079843.2:c.*2283_*2286del, NM_001079843.2:c.*2284_*2286del, NM_001079843.2:c.*2285_*2286del, NM_001079843.2:c.*2286del, NM_001079843.2:c.*2286dup, NM_001079843.2:c.*2285_*2286dup, NM_001079843.2:c.*2284_*2286dup, NM_001079843.2:c.*2283_*2286dup, NM_001079843.2:c.*2273_*2286dup, NM_001079843.2:c.*2272_*2286dup, XM_047423404.1:c.*2280_*2286del, XM_047423404.1:c.*2282_*2286del, XM_047423404.1:c.*2283_*2286del, XM_047423404.1:c.*2284_*2286del, XM_047423404.1:c.*2285_*2286del, XM_047423404.1:c.*2286del, XM_047423404.1:c.*2286dup, XM_047423404.1:c.*2285_*2286dup, XM_047423404.1:c.*2284_*2286dup, XM_047423404.1:c.*2283_*2286dup, XM_047423404.1:c.*2273_*2286dup, XM_047423404.1:c.*2272_*2286dup

Select item 14914776796.

rs1491477679 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCG,TGTGCG,TGTGTGCG [Show Flanks]
Chromosome:: 1:10794198 (GRCh38)
1:10854256 (GRCh37)
Canonical SPDI:: NC_000001.11:10794198:G:GTGCG,NC_000001.11:10794198:G:GTGTGCG,NC_000001.11:10794198:G:GTGTGTGCG
Gene:: CASZ1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGTGCG=0./0 (ALFA)
GTGC=0.000169/22 (GnomAD)
HGVS:: NC_000001.11:g.10794199_10794200insTGCG, NC_000001.11:g.10794199GT[2]GCG[1], NC_000001.11:g.10794199GT[3]GCG[1], NC_000001.10:g.10854256_10854257insTGCG, NC_000001.10:g.10854256GT[2]GCG[1], NC_000001.10:g.10854256GT[3]GCG[1]

Select item 14914324877.

rs1491432487 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:10657997 (GRCh38)
1:10718055 (GRCh37)
Canonical SPDI:: NC_000001.11:10657997::C
Gene:: CASZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.009105/108 (ALFA)
C=0.000071/2 (TOMMO)
C=0.010602/1082 (GnomAD)
HGVS:: NC_000001.11:g.10657997_10657998insC, NC_000001.10:g.10718054_10718055insC

Select item 14913965218.

rs1491396521 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:10734274 (GRCh38)
1:10794331 (GRCh37)
Canonical SPDI:: NC_000001.11:10734273:GC:
Gene:: CASZ1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00022/1 (ALFA)
-=0.00011/3 (TOMMO)
-=0.00022/1 (Estonian)
HGVS:: NC_000001.11:g.10734274_10734275del, NC_000001.10:g.10794331_10794332del

Select item 14913461759.

rs1491346175 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:10639092 (GRCh38)
1:10699149 (GRCh37)
Canonical SPDI:: NC_000001.11:10639091:GT:
Gene:: CASZ1 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000022/2 (GnomAD_exomes)
-=0.000125/2 (ExAC)
-=0.000158/21 (GnomAD)
HGVS:: NC_000001.11:g.10639092_10639093del, NC_000001.10:g.10699149_10699150del, XM_005263479.4:c.5201_5202del, XM_005263479.3:c.5201_5202del, XM_005263479.2:c.5201_5202del, XM_005263479.1:c.5201_5202del, XM_017001540.3:c.5429_5430del, XM_017001540.2:c.5429_5430del, XM_017001540.1:c.5429_5430del, XM_017001539.3:c.5501_5502del, XM_017001539.2:c.5501_5502del, XM_017001539.1:c.5501_5502del, NM_001079843.3:c.5129_5130del, NM_001079843.2:c.5129_5130del, XM_047423404.1:c.5429_5430del, XP_005263536.1:p.Asp1734fs, XP_016857029.1:p.Asp1810fs, XP_016857028.1:p.Asp1834fs, NP_001073312.1:p.Asp1710fs, XP_047279360.1:p.Asp1810fs

Select item 149131908610.

rs1491319086 has merged into rs34280909 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 1:10796997 (GRCh38)
1:10857054 (GRCh37)
Canonical SPDI:: NC_000001.11:10796988:GGGGGGGGGGG:GGGGGGGG,NC_000001.11:10796988:GGGGGGGGGGG:GGGGGGGGG,NC_000001.11:10796988:GGGGGGGGGGG:GGGGGGGGGG,NC_000001.11:10796988:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:10796988:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000001.11:10796988:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000001.11:10796988:GGGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: CASZ1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGGG=0./0 (ALFA)
G=0.1087/419 (ALSPAC)
G=0.1103/409 (TWINSUK)
G=0.25/10 (GENOME_DK)
HGVS:: NC_000001.11:g.10796997_10796999del, NC_000001.11:g.10796998_10796999del, NC_000001.11:g.10796999del, NC_000001.11:g.10796999dup, NC_000001.11:g.10796998_10796999dup, NC_000001.11:g.10796997_10796999dup, NC_000001.11:g.10796996_10796999dup, NC_000001.10:g.10857054_10857056del, NC_000001.10:g.10857055_10857056del, NC_000001.10:g.10857056del, NC_000001.10:g.10857056dup, NC_000001.10:g.10857055_10857056dup, NC_000001.10:g.10857054_10857056dup, NC_000001.10:g.10857053_10857056dup

Select item 149127883511.

rs1491278835 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:10717391 (GRCh38)
1:10777448 (GRCh37)
Canonical SPDI:: NC_000001.11:10717389:TCT:T
Gene:: CASZ1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.10717391_10717392del, NC_000001.10:g.10777448_10777449del

Select item 149126984812.

rs1491269848 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:10681200 (GRCh38)
1:10741257 (GRCh37)
Canonical SPDI:: NC_000001.11:10681199:CT:
Gene:: CASZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.10681200_10681201del, NC_000001.10:g.10741257_10741258del

Select item 149124872213.

rs1491248722 has merged into rs756390835 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:10758339 (GRCh38)
1:10818396 (GRCh37)
Canonical SPDI:: NC_000001.11:10758328:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:10758328:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:10758328:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:10758328:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:10758328:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:10758328:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:10758328:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:10758328:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:10758328:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:10758328:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10758328:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10758328:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10758328:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10758328:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CASZ1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.027763/107 (ALSPAC)
-=0.029935/111 (TWINSUK)
HGVS:: NC_000001.11:g.10758339_10758349del, NC_000001.11:g.10758340_10758349del, NC_000001.11:g.10758341_10758349del, NC_000001.11:g.10758343_10758349del, NC_000001.11:g.10758345_10758349del, NC_000001.11:g.10758346_10758349del, NC_000001.11:g.10758347_10758349del, NC_000001.11:g.10758348_10758349del, NC_000001.11:g.10758349del, NC_000001.11:g.10758349dup, NC_000001.11:g.10758348_10758349dup, NC_000001.11:g.10758347_10758349dup, NC_000001.11:g.10758346_10758349dup, NC_000001.11:g.10758344_10758349dup, NC_000001.10:g.10818396_10818406del, NC_000001.10:g.10818397_10818406del, NC_000001.10:g.10818398_10818406del, NC_000001.10:g.10818400_10818406del, NC_000001.10:g.10818402_10818406del, NC_000001.10:g.10818403_10818406del, NC_000001.10:g.10818404_10818406del, NC_000001.10:g.10818405_10818406del, NC_000001.10:g.10818406del, NC_000001.10:g.10818406dup, NC_000001.10:g.10818405_10818406dup, NC_000001.10:g.10818404_10818406dup, NC_000001.10:g.10818403_10818406dup, NC_000001.10:g.10818401_10818406dup

Select item 149124272514.

rs1491242725 has merged into rs56961164 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGG>-,GGG,GGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 1:10708976 (GRCh38)
1:10769033 (GRCh37)
Canonical SPDI:: NC_000001.11:10708971:GGGGGGGGG:GGGG,NC_000001.11:10708971:GGGGGGGGG:GGGGGGG,NC_000001.11:10708971:GGGGGGGGG:GGGGGGGG,NC_000001.11:10708971:GGGGGGGGG:GGGGGGGGGG,NC_000001.11:10708971:GGGGGGGGG:GGGGGGGGGGG
Gene:: CASZ1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0.175/7 (GENOME_DK)
HGVS:: NC_000001.11:g.10708976_10708980del, NC_000001.11:g.10708979_10708980del, NC_000001.11:g.10708980del, NC_000001.11:g.10708980dup, NC_000001.11:g.10708979_10708980dup, NC_000001.10:g.10769033_10769037del, NC_000001.10:g.10769036_10769037del, NC_000001.10:g.10769037del, NC_000001.10:g.10769037dup, NC_000001.10:g.10769036_10769037dup

Select item 149118689815.

rs1491186898 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:10717390 (GRCh38)
1:10777448 (GRCh37)
Canonical SPDI:: NC_000001.11:10717390:C:CC
Gene:: CASZ1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.10717391dup, NC_000001.10:g.10777448dup

Select item 149118595316.

rs1491185953 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:10783871 (GRCh38)
1:10843928 (GRCh37)
Canonical SPDI:: NC_000001.11:10783870:CA:
Gene:: CASZ1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.10783871_10783872del, NC_000001.10:g.10843928_10843929del

Select item 149117225317.

rs1491172253 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:10796987 (GRCh38)
1:10857044 (GRCh37)
Canonical SPDI:: NC_000001.11:10796986:AT:
Gene:: CASZ1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.0016/6 (TWINSUK)
-=0.0029/11 (ALSPAC)
HGVS:: NC_000001.11:g.10796987_10796988del, NC_000001.10:g.10857044_10857045del

Select item 149115997818.

rs1491159978 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,GA [Show Flanks]
Chromosome:: 1:10734274 (GRCh38)
1:10794332 (GRCh37)
Canonical SPDI:: NC_000001.11:10734274::A,NC_000001.11:10734274::AA,NC_000001.11:10734274::AAA,NC_000001.11:10734274::GA
Gene:: CASZ1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.00024/1 (Estonian)
HGVS:: NC_000001.11:g.10734274_10734275insA, NC_000001.11:g.10734274_10734275insAA, NC_000001.11:g.10734274_10734275insAAA, NC_000001.11:g.10734274_10734275insGA, NC_000001.10:g.10794331_10794332insA, NC_000001.10:g.10794331_10794332insAA, NC_000001.10:g.10794331_10794332insAAA, NC_000001.10:g.10794331_10794332insGA

Select item 149111929419.

rs1491119294 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:10666785 (GRCh38)
1:10726843 (GRCh37)
Canonical SPDI:: NC_000001.11:10666785:C:CC
Gene:: CASZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
C=0.000022/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.10666786dup, NC_000001.10:g.10726843dup

Select item 149109703320.

rs1491097033 has merged into rs34277559 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:10636655 (GRCh38)
1:10696712 (GRCh37)
Canonical SPDI:: NC_000001.11:10636654:CA:
Gene:: CASZ1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.05502/204 (TWINSUK)
-=0.06513/251 (ALSPAC)
HGVS:: NC_000001.11:g.10636655_10636656del, NC_000001.10:g.10696712_10696713del, XM_005263479.4:c.*2286_*2287del, XM_017001540.3:c.*2286_*2287del, XM_017001540.1:c.*2286_*2287del, XM_017001539.3:c.*2286_*2287del, XM_017001539.1:c.*2286_*2287del, NM_001079843.3:c.*2286_*2287del, NM_001079843.2:c.*2286_*2287del, XM_047423404.1:c.*2286_*2287del

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