SNP Links for Gene (Select 10951) - SNP

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Select item 14913575921.

rs1491357592 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:48091535 (GRCh38)
17:46168897 (GRCh37)
Canonical SPDI:: NC_000017.11:48091534:CT:
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.48091535_48091536del, NC_000017.10:g.46168897_46168898del

Select item 14913567692.

rs1491356769 [Homo sapiens]

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

Select item 14913254173.

rs1491325417 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:48085573 (GRCh38)
17:46162936 (GRCh37)
Canonical SPDI:: NC_000017.11:48085573::T
Gene:: CBX1 (Varview)
Functional Consequence:: intron_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_000017.11:g.48085573_48085574insT, NC_000017.10:g.46162935_46162936insT

Select item 14913172044.

rs1491317204 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:48075197 (GRCh38)
17:46152559 (GRCh37)
Canonical SPDI:: NC_000017.11:48075194:CTCT:CT
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.48075195CT[1], NC_000017.10:g.46152557CT[1]

Select item 14913137925.

rs1491313792 [Homo sapiens]

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

Select item 14912912766.

rs1491291276 has merged into rs4053473 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:48091545 (GRCh38)
17:46168907 (GRCh37)
Canonical SPDI:: NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:48091535:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000094/25 (TOPMED)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000017.11:g.48091545_48091560del, NC_000017.11:g.48091546_48091560del, NC_000017.11:g.48091547_48091560del, NC_000017.11:g.48091548_48091560del, NC_000017.11:g.48091549_48091560del, NC_000017.11:g.48091550_48091560del, NC_000017.11:g.48091551_48091560del, NC_000017.11:g.48091552_48091560del, NC_000017.11:g.48091553_48091560del, NC_000017.11:g.48091554_48091560del, NC_000017.11:g.48091555_48091560del, NC_000017.11:g.48091556_48091560del, NC_000017.11:g.48091557_48091560del, NC_000017.11:g.48091558_48091560del, NC_000017.11:g.48091559_48091560del, NC_000017.11:g.48091560del, NC_000017.11:g.48091560dup, NC_000017.11:g.48091559_48091560dup, NC_000017.11:g.48091558_48091560dup, NC_000017.11:g.48091557_48091560dup, NC_000017.11:g.48091556_48091560dup, NC_000017.11:g.48091555_48091560dup, NC_000017.11:g.48091554_48091560dup, NC_000017.11:g.48091553_48091560dup, NC_000017.11:g.48091552_48091560dup, NC_000017.11:g.48091549_48091560dup, NC_000017.11:g.48091537_48091560dup, NC_000017.10:g.46168907_46168922del, NC_000017.10:g.46168908_46168922del, NC_000017.10:g.46168909_46168922del, NC_000017.10:g.46168910_46168922del, NC_000017.10:g.46168911_46168922del, NC_000017.10:g.46168912_46168922del, NC_000017.10:g.46168913_46168922del, NC_000017.10:g.46168914_46168922del, NC_000017.10:g.46168915_46168922del, NC_000017.10:g.46168916_46168922del, NC_000017.10:g.46168917_46168922del, NC_000017.10:g.46168918_46168922del, NC_000017.10:g.46168919_46168922del, NC_000017.10:g.46168920_46168922del, NC_000017.10:g.46168921_46168922del, NC_000017.10:g.46168922del, NC_000017.10:g.46168922dup, NC_000017.10:g.46168921_46168922dup, NC_000017.10:g.46168920_46168922dup, NC_000017.10:g.46168919_46168922dup, NC_000017.10:g.46168918_46168922dup, NC_000017.10:g.46168917_46168922dup, NC_000017.10:g.46168916_46168922dup, NC_000017.10:g.46168915_46168922dup, NC_000017.10:g.46168914_46168922dup, NC_000017.10:g.46168911_46168922dup, NC_000017.10:g.46168899_46168922dup

Select item 14911973027.

rs1491197302 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:48073824 (GRCh38)
17:46151186 (GRCh37)
Canonical SPDI:: NC_000017.11:48073823:CA:
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00363/43 (ALFA)
-=0.00065/18 (TOMMO)
HGVS:: NC_000017.11:g.48073824_48073825del, NC_000017.10:g.46151186_46151187del

Select item 14911806698.

rs1491180669 has merged into rs60857566 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:48073835 (GRCh38)
17:46151197 (GRCh37)
Canonical SPDI:: NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:48073824:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.3948/1977 (1000Genomes)
HGVS:: NC_000017.11:g.48073835_48073845del, NC_000017.11:g.48073836_48073845del, NC_000017.11:g.48073837_48073845del, NC_000017.11:g.48073838_48073845del, NC_000017.11:g.48073839_48073845del, NC_000017.11:g.48073840_48073845del, NC_000017.11:g.48073841_48073845del, NC_000017.11:g.48073842_48073845del, NC_000017.11:g.48073843_48073845del, NC_000017.11:g.48073844_48073845del, NC_000017.11:g.48073845del, NC_000017.11:g.48073845dup, NC_000017.11:g.48073844_48073845dup, NC_000017.11:g.48073843_48073845dup, NC_000017.11:g.48073842_48073845dup, NC_000017.11:g.48073841_48073845dup, NC_000017.11:g.48073840_48073845dup, NC_000017.11:g.48073839_48073845dup, NC_000017.11:g.48073838_48073845dup, NC_000017.11:g.48073837_48073845dup, NC_000017.11:g.48073836_48073845dup, NC_000017.11:g.48073835_48073845dup, NC_000017.11:g.48073834_48073845dup, NC_000017.11:g.48073833_48073845dup, NC_000017.11:g.48073832_48073845dup, NC_000017.11:g.48073831_48073845dup, NC_000017.11:g.48073830_48073845dup, NC_000017.11:g.48073829_48073845dup, NC_000017.11:g.48073828_48073845dup, NC_000017.11:g.48073827_48073845dup, NC_000017.11:g.48073826_48073845dup, NC_000017.11:g.48073825_48073845dup, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073845_48073846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.48073825_48073845A[27]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.48073825_48073845A[21]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.48073825_48073845A[21]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.46151197_46151207del, NC_000017.10:g.46151198_46151207del, NC_000017.10:g.46151199_46151207del, NC_000017.10:g.46151200_46151207del, NC_000017.10:g.46151201_46151207del, NC_000017.10:g.46151202_46151207del, NC_000017.10:g.46151203_46151207del, NC_000017.10:g.46151204_46151207del, NC_000017.10:g.46151205_46151207del, NC_000017.10:g.46151206_46151207del, NC_000017.10:g.46151207del, NC_000017.10:g.46151207dup, NC_000017.10:g.46151206_46151207dup, NC_000017.10:g.46151205_46151207dup, NC_000017.10:g.46151204_46151207dup, NC_000017.10:g.46151203_46151207dup, NC_000017.10:g.46151202_46151207dup, NC_000017.10:g.46151201_46151207dup, NC_000017.10:g.46151200_46151207dup, NC_000017.10:g.46151199_46151207dup, NC_000017.10:g.46151198_46151207dup, NC_000017.10:g.46151197_46151207dup, NC_000017.10:g.46151196_46151207dup, NC_000017.10:g.46151195_46151207dup, NC_000017.10:g.46151194_46151207dup, NC_000017.10:g.46151193_46151207dup, NC_000017.10:g.46151192_46151207dup, NC_000017.10:g.46151191_46151207dup, NC_000017.10:g.46151190_46151207dup, NC_000017.10:g.46151189_46151207dup, NC_000017.10:g.46151188_46151207dup, NC_000017.10:g.46151187_46151207dup, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151207_46151208insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.46151187_46151207A[27]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.46151187_46151207A[21]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.46151187_46151207A[21]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14911455479.

rs1491145547 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:48089644 (GRCh38)
17:46167006 (GRCh37)
Canonical SPDI:: NC_000017.11:48089642:GTG:G
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0011/5 (ALFA)
-=0.0011/5 (Estonian)
HGVS:: NC_000017.11:g.48089644_48089645del, NC_000017.10:g.46167006_46167007del

Select item 149105820610.

rs1491058206 has merged into rs71141963 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:48087196 (GRCh38)
17:46164558 (GRCh37)
Canonical SPDI:: NC_000017.11:48087188:AAAAAAAAAAAAA:AAAAAAA,NC_000017.11:48087188:AAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:48087188:AAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:48087188:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:48087188:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:48087188:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:48087188:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:48087188:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:48087188:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:48087188:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.0298/115 (ALSPAC)
A=0.1864/110 (NorthernSweden)
HGVS:: NC_000017.11:g.48087196_48087201del, NC_000017.11:g.48087197_48087201del, NC_000017.11:g.48087198_48087201del, NC_000017.11:g.48087199_48087201del, NC_000017.11:g.48087200_48087201del, NC_000017.11:g.48087201del, NC_000017.11:g.48087201dup, NC_000017.11:g.48087200_48087201dup, NC_000017.11:g.48087199_48087201dup, NC_000017.11:g.48087195_48087201dup, NC_000017.10:g.46164558_46164563del, NC_000017.10:g.46164559_46164563del, NC_000017.10:g.46164560_46164563del, NC_000017.10:g.46164561_46164563del, NC_000017.10:g.46164562_46164563del, NC_000017.10:g.46164563del, NC_000017.10:g.46164563dup, NC_000017.10:g.46164562_46164563dup, NC_000017.10:g.46164561_46164563dup, NC_000017.10:g.46164557_46164563dup

Select item 149105387411.

rs1491053874 has merged into rs34047980 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 17:48074230 (GRCh38)
17:46151592 (GRCh37)
Canonical SPDI:: NC_000017.11:48074220:TGTGTGTGTGTGTGTGTGT:TGTGTGTGT,NC_000017.11:48074220:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000017.11:48074220:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000017.11:48074220:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000017.11:48074220:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000017.11:48074220:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:48074220:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
TG=0.00283/47 (TOMMO)
TG=0.03154/158 (1000Genomes)
HGVS:: NC_000017.11:g.48074222GT[4], NC_000017.11:g.48074222GT[6], NC_000017.11:g.48074222GT[7], NC_000017.11:g.48074222GT[8], NC_000017.11:g.48074222GT[10], NC_000017.11:g.48074222GT[11], NC_000017.11:g.48074222GT[12], NC_000017.10:g.46151584GT[4], NC_000017.10:g.46151584GT[6], NC_000017.10:g.46151584GT[7], NC_000017.10:g.46151584GT[8], NC_000017.10:g.46151584GT[10], NC_000017.10:g.46151584GT[11], NC_000017.10:g.46151584GT[12]

Select item 149103003412.

rs1491030034 has merged into rs57913052 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 17:48085573 (GRCh38)
17:46162935 (GRCh37)
Canonical SPDI:: NC_000017.11:48085561:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:48085561:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:48085561:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:48085561:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:48085561:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2892/1074 (1000Genomes)
HGVS:: NC_000017.11:g.48085573_48085574del, NC_000017.11:g.48085574del, NC_000017.11:g.48085574dup, NC_000017.11:g.48085573_48085574dup, NC_000017.11:g.48085572_48085574dup, NC_000017.10:g.46162935_46162936del, NC_000017.10:g.46162936del, NC_000017.10:g.46162936dup, NC_000017.10:g.46162935_46162936dup, NC_000017.10:g.46162934_46162936dup

Select item 149098296213.

rs1490982962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:48091823 (GRCh38)
17:46169185 (GRCh37)
Canonical SPDI:: NC_000017.11:48091822:G:A,NC_000017.11:48091822:G:C
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.48091823G>A, NC_000017.11:g.48091823G>C, NC_000017.10:g.46169185G>A, NC_000017.10:g.46169185G>C

Select item 149091214114.

rs1490912141 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:48069625 (GRCh38)
17:46146988 (GRCh37)
Canonical SPDI:: NC_000017.11:48069625:AAAA:AAAAA
Gene:: CBX1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0.00007/1 (ALFA)
A=0.00022/1 (Estonian)
HGVS:: NC_000017.11:g.48069629dup, NC_000017.10:g.46146991dup

Select item 149089821415.

rs1490898214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:48099196 (GRCh38)
17:46176558 (GRCh37)
Canonical SPDI:: NC_000017.11:48099195:G:A,NC_000017.11:48099195:G:C
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.48099196G>A, NC_000017.11:g.48099196G>C, NC_000017.10:g.46176558G>A, NC_000017.10:g.46176558G>C

Select item 149086507016.

rs1490865070 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:48092485 (GRCh38)
17:46169847 (GRCh37)
Canonical SPDI:: NC_000017.11:48092484:G:T
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.48092485G>T, NC_000017.10:g.46169847G>T

Select item 149082538117.

rs1490825381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48098867 (GRCh38)
17:46176229 (GRCh37)
Canonical SPDI:: NC_000017.11:48098866:G:A
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.48098867G>A, NC_000017.10:g.46176229G>A

Select item 149058403318.

rs1490584033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48097200 (GRCh38)
17:46174562 (GRCh37)
Canonical SPDI:: NC_000017.11:48097199:G:A
Gene:: CBX1 (Varview)
Functional Consequence:: intron_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_000017.11:g.48097200G>A, NC_000017.10:g.46174562G>A

Select item 149032167819.

rs1490321678 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 17:48087871 (GRCh38)
17:46165234 (GRCh37)
Canonical SPDI:: NC_000017.11:48087871::A,NC_000017.11:48087871::AA
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.0017/3 (Korea1K)
A=0.0027/121 (GnomAD)
A=0.00943/155 (TOMMO)
HGVS:: NC_000017.11:g.48087871_48087872insA, NC_000017.11:g.48087871_48087872insAA, NC_000017.10:g.46165233_46165234insA, NC_000017.10:g.46165233_46165234insAA

Select item 149021343120.

rs1490213431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:48072670 (GRCh38)
17:46150032 (GRCh37)
Canonical SPDI:: NC_000017.11:48072669:C:G
Gene:: CBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.48072670C>G, NC_000017.10:g.46150032C>G

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