SNP Links for Gene (Select 339487) - SNP

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Select item 14915384261.

rs1491538426 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CAC,CACAC,CACACAC,CACACACAC,CACACACACAC,CACACAT,CACAT,CACATT,CATT,CT,CTT,CTTT,CTTTTT [Show Flanks]
Chromosome:: 1:32649668 (GRCh38)
1:33115270 (GRCh37)
Canonical SPDI:: NC_000001.11:32649668::C,NC_000001.11:32649668::CAC,NC_000001.11:32649668::CACAC,NC_000001.11:32649668::CACACAC,NC_000001.11:32649668::CACACACAC,NC_000001.11:32649668::CACACACACAC,NC_000001.11:32649668::CACACAT,NC_000001.11:32649668::CACAT,NC_000001.11:32649668::CACATT,NC_000001.11:32649668::CATT,NC_000001.11:32649668::CT,NC_000001.11:32649668::CTT,NC_000001.11:32649668::CTTT,NC_000001.11:32649668::CTTTTT
Gene:: RBBP4 (Varview), ZBTB8OS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
CACACAT=0.000004/1 (TOPMED)
CTT=0.019022/7 (NorthernSweden)
HGVS:: NC_000001.11:g.32649668_32649669insC, NC_000001.11:g.32649668_32649669insCAC, NC_000001.11:g.32649668_32649669insCACAC, NC_000001.11:g.32649668_32649669insCACACAC, NC_000001.11:g.32649668_32649669insCACACACAC, NC_000001.11:g.32649668_32649669insCACACACACAC, NC_000001.11:g.32649668_32649669insCACACAT, NC_000001.11:g.32649668_32649669insCACAT, NC_000001.11:g.32649668_32649669insCACATT, NC_000001.11:g.32649668_32649669insCATT, NC_000001.11:g.32649668_32649669insCT, NC_000001.11:g.32649668_32649669insCTT, NC_000001.11:g.32649668_32649669insCTTT, NC_000001.11:g.32649668_32649669insCTTTTT, NC_000001.10:g.33115269_33115270insC, NC_000001.10:g.33115269_33115270insCAC, NC_000001.10:g.33115269_33115270insCACAC, NC_000001.10:g.33115269_33115270insCACACAC, NC_000001.10:g.33115269_33115270insCACACACAC, NC_000001.10:g.33115269_33115270insCACACACACAC, NC_000001.10:g.33115269_33115270insCACACAT, NC_000001.10:g.33115269_33115270insCACAT, NC_000001.10:g.33115269_33115270insCACATT, NC_000001.10:g.33115269_33115270insCATT, NC_000001.10:g.33115269_33115270insCT, NC_000001.10:g.33115269_33115270insCTT, NC_000001.10:g.33115269_33115270insCTTT, NC_000001.10:g.33115269_33115270insCTTTTT

Select item 14915268472.

rs1491526847 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:32621398 (GRCh38)
1:33086999 (GRCh37)
Canonical SPDI:: NC_000001.11:32621397:CA:
Gene:: ZBTB8OS (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.32621398_32621399del, NC_000001.10:g.33086999_33087000del, NM_178547.5:c.*463_*464del, NM_178547.4:c.*463_*464del, NM_178547.3:c.*463_*464del, XM_017001136.3:c.*463_*464del, XM_017001136.2:c.*463_*464del, XM_017001136.1:c.*463_*464del, NM_001330475.2:c.*463_*464del, NM_001330475.1:c.*463_*464del, NM_001308138.2:c.*463_*464del, NM_001308138.1:c.*463_*464del, NM_001308139.2:c.*463_*464del, NM_001308139.1:c.*463_*464del, NM_001308140.2:c.*463_*464del, NM_001308140.1:c.*463_*464del, NM_001308141.2:c.*463_*464del, NM_001308141.1:c.*463_*464del, NM_001308135.2:c.*463_*464del, NM_001308135.1:c.*463_*464del, NM_001308136.2:c.*503_*504del, NM_001308136.1:c.*503_*504del, NM_001308137.2:c.*503_*504del, NM_001308137.1:c.*503_*504del, NR_158779.1:n.1573_1574del, NR_158778.1:n.1497_1498del, NR_158774.1:n.1483_1484del, NM_001366258.1:c.*463_*464del, NM_001366255.1:c.*463_*464del, NM_001366268.1:c.*463_*464del, NM_001366259.1:c.*463_*464del, NR_158772.1:n.1421_1422del, NM_001366260.1:c.*463_*464del, NM_001366264.1:c.*463_*464del, NM_001366269.1:c.*503_*504del, NM_001366263.1:c.*463_*464del, NM_001366267.1:c.*463_*464del, NM_001366265.1:c.*528_*529del, NR_158775.1:n.1361_1362del, NM_001366256.1:c.*463_*464del, NR_158782.1:n.1330_1331del, NR_158777.1:n.1292_1293del, NM_001366266.1:c.*463_*464del, NR_158781.1:n.1223_1224del, NR_158780.1:n.1170_1171del, NR_158776.1:n.1133_1134del, NM_001366270.1:c.*463_*464del, NM_001366271.1:c.*463_*464del, NM_001366257.1:c.*463_*464del, NM_001366278.1:c.*463_*464del, NR_158773.1:n.978_979del, XM_047419291.1:c.*463_*464del, XM_047419295.1:c.*503_*504del

Select item 14914389073.

rs1491438907 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:32627040 (GRCh38)
1:33092641 (GRCh37)
Canonical SPDI:: NC_000001.11:32627038:TCT:T
Gene:: ZBTB8OS (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.32627040_32627041del, NC_000001.10:g.33092641_33092642del

Select item 14911952504.

rs1491195250 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:32627039 (GRCh38)
1:33092641 (GRCh37)
Canonical SPDI:: NC_000001.11:32627039:C:CC
Gene:: ZBTB8OS (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.32627040dup, NC_000001.10:g.33092641dup

Select item 14910863045.

rs1491086304 has merged into rs71006347 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:32647053 (GRCh38)
1:33112654 (GRCh37)
Canonical SPDI:: NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32647041:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZBTB8OS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000001.11:g.32647053_32647073del, NC_000001.11:g.32647054_32647073del, NC_000001.11:g.32647055_32647073del, NC_000001.11:g.32647056_32647073del, NC_000001.11:g.32647057_32647073del, NC_000001.11:g.32647058_32647073del, NC_000001.11:g.32647059_32647073del, NC_000001.11:g.32647060_32647073del, NC_000001.11:g.32647061_32647073del, NC_000001.11:g.32647062_32647073del, NC_000001.11:g.32647063_32647073del, NC_000001.11:g.32647064_32647073del, NC_000001.11:g.32647065_32647073del, NC_000001.11:g.32647066_32647073del, NC_000001.11:g.32647067_32647073del, NC_000001.11:g.32647068_32647073del, NC_000001.11:g.32647069_32647073del, NC_000001.11:g.32647070_32647073del, NC_000001.11:g.32647071_32647073del, NC_000001.11:g.32647072_32647073del, NC_000001.11:g.32647073del, NC_000001.11:g.32647073dup, NC_000001.11:g.32647072_32647073dup, NC_000001.11:g.32647071_32647073dup, NC_000001.11:g.32647070_32647073dup, NC_000001.11:g.32647069_32647073dup, NC_000001.11:g.32647068_32647073dup, NC_000001.11:g.32647067_32647073dup, NC_000001.11:g.32647066_32647073dup, NC_000001.11:g.32647062_32647073dup, NC_000001.11:g.32647061_32647073dup, NC_000001.11:g.32647060_32647073dup, NC_000001.11:g.32647059_32647073dup, NC_000001.11:g.32647056_32647073dup, NC_000001.11:g.32647073_32647074insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.33112654_33112674del, NC_000001.10:g.33112655_33112674del, NC_000001.10:g.33112656_33112674del, NC_000001.10:g.33112657_33112674del, NC_000001.10:g.33112658_33112674del, NC_000001.10:g.33112659_33112674del, NC_000001.10:g.33112660_33112674del, NC_000001.10:g.33112661_33112674del, NC_000001.10:g.33112662_33112674del, NC_000001.10:g.33112663_33112674del, NC_000001.10:g.33112664_33112674del, NC_000001.10:g.33112665_33112674del, NC_000001.10:g.33112666_33112674del, NC_000001.10:g.33112667_33112674del, NC_000001.10:g.33112668_33112674del, NC_000001.10:g.33112669_33112674del, NC_000001.10:g.33112670_33112674del, NC_000001.10:g.33112671_33112674del, NC_000001.10:g.33112672_33112674del, NC_000001.10:g.33112673_33112674del, NC_000001.10:g.33112674del, NC_000001.10:g.33112674dup, NC_000001.10:g.33112673_33112674dup, NC_000001.10:g.33112672_33112674dup, NC_000001.10:g.33112671_33112674dup, NC_000001.10:g.33112670_33112674dup, NC_000001.10:g.33112669_33112674dup, NC_000001.10:g.33112668_33112674dup, NC_000001.10:g.33112667_33112674dup, NC_000001.10:g.33112663_33112674dup, NC_000001.10:g.33112662_33112674dup, NC_000001.10:g.33112661_33112674dup, NC_000001.10:g.33112660_33112674dup, NC_000001.10:g.33112657_33112674dup, NC_000001.10:g.33112674_33112675insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14910752846.

rs1491075284 has merged into rs57960226 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:32644543 (GRCh38)
1:33110144 (GRCh37)
Canonical SPDI:: NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32644534:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZBTB8OS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.08327/417 (1000Genomes)
HGVS:: NC_000001.11:g.32644543_32644552del, NC_000001.11:g.32644544_32644552del, NC_000001.11:g.32644545_32644552del, NC_000001.11:g.32644546_32644552del, NC_000001.11:g.32644547_32644552del, NC_000001.11:g.32644548_32644552del, NC_000001.11:g.32644549_32644552del, NC_000001.11:g.32644550_32644552del, NC_000001.11:g.32644551_32644552del, NC_000001.11:g.32644552del, NC_000001.11:g.32644552dup, NC_000001.11:g.32644551_32644552dup, NC_000001.11:g.32644550_32644552dup, NC_000001.11:g.32644549_32644552dup, NC_000001.11:g.32644546_32644552dup, NC_000001.11:g.32644538_32644552dup, NC_000001.10:g.33110144_33110153del, NC_000001.10:g.33110145_33110153del, NC_000001.10:g.33110146_33110153del, NC_000001.10:g.33110147_33110153del, NC_000001.10:g.33110148_33110153del, NC_000001.10:g.33110149_33110153del, NC_000001.10:g.33110150_33110153del, NC_000001.10:g.33110151_33110153del, NC_000001.10:g.33110152_33110153del, NC_000001.10:g.33110153del, NC_000001.10:g.33110153dup, NC_000001.10:g.33110152_33110153dup, NC_000001.10:g.33110151_33110153dup, NC_000001.10:g.33110150_33110153dup, NC_000001.10:g.33110147_33110153dup, NC_000001.10:g.33110139_33110153dup

Select item 14910644527.

rs1491064452 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:32649632 (GRCh38)
1:33115234 (GRCh37)
Canonical SPDI:: NC_000001.11:32649632::C
Gene:: RBBP4 (Varview), ZBTB8OS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.01697/129 (TOMMO)
C=0.02627/28 (Korea1K)
C=0.04819/8 (NorthernSweden)
C=0.116/2517 (GnomAD)
HGVS:: NC_000001.11:g.32649632_32649633insC, NC_000001.10:g.33115233_33115234insC

Select item 14910391028.

rs1491039102 has merged into rs71006349 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:32647446 (GRCh38)
1:33113047 (GRCh37)
Canonical SPDI:: NC_000001.11:32647436:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:32647436:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:32647436:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:32647436:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:32647436:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:32647436:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:32647436:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:32647436:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZBTB8OS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (TWINSUK)
A=0.4/16 (GENOME_DK)
HGVS:: NC_000001.11:g.32647446_32647452del, NC_000001.11:g.32647448_32647452del, NC_000001.11:g.32647449_32647452del, NC_000001.11:g.32647450_32647452del, NC_000001.11:g.32647451_32647452del, NC_000001.11:g.32647452del, NC_000001.11:g.32647452dup, NC_000001.11:g.32647446_32647452dup, NC_000001.10:g.33113047_33113053del, NC_000001.10:g.33113049_33113053del, NC_000001.10:g.33113050_33113053del, NC_000001.10:g.33113051_33113053del, NC_000001.10:g.33113052_33113053del, NC_000001.10:g.33113053del, NC_000001.10:g.33113053dup, NC_000001.10:g.33113047_33113053dup

Select item 14910179709.

rs1491017970 has merged into rs71006345 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:32632003 (GRCh38)
1:33097604 (GRCh37)
Canonical SPDI:: NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32631992:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZBTB8OS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.32632003_32632019del, NC_000001.11:g.32632004_32632019del, NC_000001.11:g.32632005_32632019del, NC_000001.11:g.32632006_32632019del, NC_000001.11:g.32632007_32632019del, NC_000001.11:g.32632008_32632019del, NC_000001.11:g.32632009_32632019del, NC_000001.11:g.32632010_32632019del, NC_000001.11:g.32632011_32632019del, NC_000001.11:g.32632012_32632019del, NC_000001.11:g.32632013_32632019del, NC_000001.11:g.32632014_32632019del, NC_000001.11:g.32632015_32632019del, NC_000001.11:g.32632016_32632019del, NC_000001.11:g.32632017_32632019del, NC_000001.11:g.32632018_32632019del, NC_000001.11:g.32632019del, NC_000001.11:g.32632019dup, NC_000001.11:g.32632018_32632019dup, NC_000001.11:g.32632017_32632019dup, NC_000001.11:g.32632016_32632019dup, NC_000001.11:g.32632015_32632019dup, NC_000001.11:g.32632014_32632019dup, NC_000001.11:g.32632013_32632019dup, NC_000001.11:g.32632012_32632019dup, NC_000001.11:g.32632011_32632019dup, NC_000001.11:g.32632010_32632019dup, NC_000001.10:g.33097604_33097620del, NC_000001.10:g.33097605_33097620del, NC_000001.10:g.33097606_33097620del, NC_000001.10:g.33097607_33097620del, NC_000001.10:g.33097608_33097620del, NC_000001.10:g.33097609_33097620del, NC_000001.10:g.33097610_33097620del, NC_000001.10:g.33097611_33097620del, NC_000001.10:g.33097612_33097620del, NC_000001.10:g.33097613_33097620del, NC_000001.10:g.33097614_33097620del, NC_000001.10:g.33097615_33097620del, NC_000001.10:g.33097616_33097620del, NC_000001.10:g.33097617_33097620del, NC_000001.10:g.33097618_33097620del, NC_000001.10:g.33097619_33097620del, NC_000001.10:g.33097620del, NC_000001.10:g.33097620dup, NC_000001.10:g.33097619_33097620dup, NC_000001.10:g.33097618_33097620dup, NC_000001.10:g.33097617_33097620dup, NC_000001.10:g.33097616_33097620dup, NC_000001.10:g.33097615_33097620dup, NC_000001.10:g.33097614_33097620dup, NC_000001.10:g.33097613_33097620dup, NC_000001.10:g.33097612_33097620dup, NC_000001.10:g.33097611_33097620dup

Select item 149087080210.

rs1490870802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32636492 (GRCh38)
1:33102093 (GRCh37)
Canonical SPDI:: NC_000001.11:32636491:C:T
Gene:: ZBTB8OS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.32636492C>T, NC_000001.10:g.33102093C>T

Select item 149080918211.

rs1490809182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:32627514 (GRCh38)
1:33093115 (GRCh37)
Canonical SPDI:: NC_000001.11:32627513:G:A,NC_000001.11:32627513:G:C
Gene:: ZBTB8OS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32627514G>A, NC_000001.11:g.32627514G>C, NC_000001.10:g.33093115G>A, NC_000001.10:g.33093115G>C, NM_178547.5:c.411C>T, NM_178547.5:c.411C>G, NM_178547.4:c.447C>T, NM_178547.4:c.447C>G, NM_178547.3:c.447C>T, NM_178547.3:c.447C>G, NM_178547.2:c.447C>T, NM_178547.2:c.447C>G, XM_017001136.3:c.246C>T, XM_017001136.3:c.246C>G, XM_017001136.2:c.246C>T, XM_017001136.2:c.246C>G, XM_017001136.1:c.246C>T, XM_017001136.1:c.246C>G, NM_001330475.2:c.303C>T, NM_001330475.2:c.303C>G, NM_001330475.1:c.303C>T, NM_001330475.1:c.303C>G, NM_001308138.2:c.240C>T, NM_001308138.2:c.240C>G, NM_001308138.1:c.240C>T, NM_001308138.1:c.240C>G, NM_001308139.2:c.240C>T, NM_001308139.2:c.240C>G, NM_001308139.1:c.240C>T, NM_001308139.1:c.240C>G, NM_001308140.2:c.240C>T, NM_001308140.2:c.240C>G, NM_001308140.1:c.240C>T, NM_001308140.1:c.240C>G, NM_001308141.2:c.240C>T, NM_001308141.2:c.240C>G, NM_001308141.1:c.240C>T, NM_001308141.1:c.240C>G, NM_001308135.2:c.426C>T, NM_001308135.2:c.426C>G, NM_001308135.1:c.426C>T, NM_001308135.1:c.426C>G, NM_001308136.2:c.394C>T, NM_001308136.2:c.394C>G, NM_001308136.1:c.394C>T, NM_001308136.1:c.394C>G, NM_001308137.2:c.373C>T, NM_001308137.2:c.373C>G, NM_001308137.1:c.373C>T, NM_001308137.1:c.373C>G, NR_158779.1:n.1017C>T, NR_158779.1:n.1017C>G, NR_158778.1:n.941C>T, NR_158778.1:n.941C>G, NR_158774.1:n.927C>T, NR_158774.1:n.927C>G, NM_001366258.1:c.240C>T, NM_001366258.1:c.240C>G, NM_001366255.1:c.303C>T, NM_001366255.1:c.303C>G, NM_001366268.1:c.276C>T, NM_001366268.1:c.276C>G, NM_001366259.1:c.240C>T, NM_001366259.1:c.240C>G, NR_158772.1:n.865C>T, NR_158772.1:n.865C>G, NM_001366260.1:c.240C>T, NM_001366260.1:c.240C>G, NM_001366264.1:c.483C>T, NM_001366264.1:c.483C>G, NM_001366269.1:c.250C>T, NM_001366269.1:c.250C>G, NM_001366263.1:c.240C>T, NM_001366263.1:c.240C>G, NM_001366267.1:c.291C>T, NM_001366267.1:c.291C>G, NM_001366265.1:c.447C>T, NM_001366265.1:c.447C>G, NR_158775.1:n.805C>T, NR_158775.1:n.805C>G, NM_001366256.1:c.240C>T, NM_001366256.1:c.240C>G, NR_158782.1:n.774C>T, NR_158782.1:n.774C>G, NR_158777.1:n.736C>T, NR_158777.1:n.736C>G, NR_158781.1:n.667C>T, NR_158781.1:n.667C>G, NR_158780.1:n.614C>T, NR_158780.1:n.614C>G, NM_001366270.1:c.189C>T, NM_001366270.1:c.189C>G, NM_001366271.1:c.193C>T, NM_001366271.1:c.193C>G, NM_001366257.1:c.240C>T, NM_001366257.1:c.240C>G, NM_001366278.1:c.411C>T, NM_001366278.1:c.411C>G, NR_158773.1:n.422C>T, NR_158773.1:n.422C>G, XM_047419291.1:c.303C>T, XM_047419291.1:c.303C>G, XM_047419295.1:c.250C>T, XM_047419295.1:c.250C>G, XR_007059335.1:n.928C>T, XR_007059335.1:n.928C>G, NP_848642.2:p.His137Gln, XP_016856625.1:p.His82Gln, NP_001317404.1:p.His101Gln, NP_001295067.1:p.His80Gln, NP_001295068.1:p.His80Gln, NP_001295069.1:p.His80Gln, NP_001295070.1:p.His80Gln, NP_001295064.1:p.His142Gln, NP_001295065.1:p.Pro132Ser, NP_001295065.1:p.Pro132Ala, NP_001295066.1:p.Pro125Ser, NP_001295066.1:p.Pro125Ala, NP_001353187.1:p.His80Gln, NP_001353184.1:p.His101Gln, NP_001353197.1:p.His92Gln, NP_001353188.1:p.His80Gln, NP_001353189.1:p.His80Gln, NP_001353193.1:p.His161Gln, NP_001353198.1:p.Pro84Ser, NP_001353198.1:p.Pro84Ala, NP_001353192.1:p.His80Gln, NP_001353196.1:p.His97Gln, NP_001353194.1:p.His149Gln, NP_001353185.1:p.His80Gln, NP_001353199.1:p.His63Gln, NP_001353200.1:p.Pro65Ser, NP_001353200.1:p.Pro65Ala, NP_001353186.1:p.His80Gln, XP_047275247.1:p.His101Gln, XP_047275251.1:p.Pro84Ser, XP_047275251.1:p.Pro84Ala

Select item 149040524112.

rs1490405241 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:32637085 (GRCh38)
1:33102686 (GRCh37)
Canonical SPDI:: NC_000001.11:32637084:T:C,NC_000001.11:32637084:T:G
Gene:: ZBTB8OS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.32637085T>C, NC_000001.11:g.32637085T>G, NC_000001.10:g.33102686T>C, NC_000001.10:g.33102686T>G

Select item 149027857513.

rs1490278575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:32650961 (GRCh38)
1:33116562 (GRCh37)
Canonical SPDI:: NC_000001.11:32650960:A:G
Gene:: RBBP4 (Varview), ZBTB8OS (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32650961A>G, NC_000001.10:g.33116562A>G

Select item 149021695414.

rs1490216954 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:32648097 (GRCh38)
1:33113698 (GRCh37)
Canonical SPDI:: NC_000001.11:32648096:AT:
Gene:: ZBTB8OS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
-=0.000156/1 (1000Genomes)
-=0.001911/32 (TOMMO)
-=0.002729/5 (Korea1K)
HGVS:: NC_000001.11:g.32648097_32648098del, NC_000001.10:g.33113698_33113699del

Select item 149020172315.

rs1490201723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:32650035 (GRCh38)
1:33115636 (GRCh37)
Canonical SPDI:: NC_000001.11:32650034:A:T
Gene:: RBBP4 (Varview), ZBTB8OS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.32650035A>T, NC_000001.10:g.33115636A>T

Select item 149014734816.

rs1490147348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:32622190 (GRCh38)
1:33087791 (GRCh37)
Canonical SPDI:: NC_000001.11:32622189:G:C
Gene:: ZBTB8OS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.32622190G>C, NC_000001.10:g.33087791G>C

Select item 149007352417.

rs1490073524 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACT>- [Show Flanks]
Chromosome:: 1:32632762 (GRCh38)
1:33098363 (GRCh37)
Canonical SPDI:: NC_000001.11:32632758:ACTACT:ACT
Gene:: ZBTB8OS (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACTACT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.32632759ACT[1], NC_000001.10:g.33098360ACT[1], XM_011541327.3:c.*546AGT[1], XM_011541327.2:c.*546AGT[1], XM_011541327.1:c.*546AGT[1]

Select item 149003958718.

rs1490039587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32649323 (GRCh38)
1:33114924 (GRCh37)
Canonical SPDI:: NC_000001.11:32649322:C:T
Gene:: RBBP4 (Varview), ZBTB8OS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.32649323C>T, NC_000001.10:g.33114924C>T

Select item 149002628219.

rs1490026282 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:32637692 (GRCh38)
1:33103293 (GRCh37)
Canonical SPDI:: NC_000001.11:32637691:AAAA:AAA
Gene:: ZBTB8OS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.32637695del, NC_000001.10:g.33103296del

Select item 149002195320.

rs1490021953 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32622740 (GRCh38)
1:33088341 (GRCh37)
Canonical SPDI:: NC_000001.11:32622739:T:C
Gene:: ZBTB8OS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000001.11:g.32622740T>C, NC_000001.10:g.33088341T>C

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