SNP Links for Nucleotide (Select 188035907) - SNP

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Select item 14914323641.

rs1491432364 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:54240414 (GRCh38)
12:54634199 (GRCh37)
Canonical SPDI:: NC_000012.12:54240414:GGGGG:GGGGGG
Gene:: CBX5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.54240419dup, NC_000012.11:g.54634203dup, NM_012117.3:c.*1340dup, NM_012117.2:c.*1340dup, NM_001127322.1:c.*1340dup, NM_001127321.1:c.*1340dup

Select item 14913587502.

rs1491358750 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAT [Show Flanks]
Chromosome:: 12:54233346 (GRCh38)
12:54627131 (GRCh37)
Canonical SPDI:: NC_000012.12:54233346:AT:ATTAAT
Gene:: CBX5 (Varview), MIR3198-2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATTAAT=0./0 (ALFA)
ATTA=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.54233348_54233349insTAAT, NC_000012.11:g.54627132_54627133insTAAT, NM_012117.3:c.*8408_*8409insTAAT, NM_012117.2:c.*8408_*8409insTAAT, NM_001127322.1:c.*8408_*8409insTAAT, NM_001127321.1:c.*8408_*8409insTAAT

Select item 14909609803.

rs1490960980 has merged into rs60901455 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:54234190 (GRCh38)
12:54627974 (GRCh37)
Canonical SPDI:: NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:54234178:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CBX5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.175/7 (GENOME_DK)
HGVS:: NC_000012.12:g.54234190_54234206del, NC_000012.12:g.54234191_54234206del, NC_000012.12:g.54234192_54234206del, NC_000012.12:g.54234193_54234206del, NC_000012.12:g.54234194_54234206del, NC_000012.12:g.54234195_54234206del, NC_000012.12:g.54234196_54234206del, NC_000012.12:g.54234197_54234206del, NC_000012.12:g.54234198_54234206del, NC_000012.12:g.54234199_54234206del, NC_000012.12:g.54234200_54234206del, NC_000012.12:g.54234201_54234206del, NC_000012.12:g.54234202_54234206del, NC_000012.12:g.54234203_54234206del, NC_000012.12:g.54234204_54234206del, NC_000012.12:g.54234205_54234206del, NC_000012.12:g.54234206del, NC_000012.12:g.54234206dup, NC_000012.12:g.54234205_54234206dup, NC_000012.12:g.54234204_54234206dup, NC_000012.12:g.54234203_54234206dup, NC_000012.12:g.54234202_54234206dup, NC_000012.12:g.54234201_54234206dup, NC_000012.12:g.54234199_54234206dup, NC_000012.12:g.54234191_54234206dup, NC_000012.11:g.54627974_54627990del, NC_000012.11:g.54627975_54627990del, NC_000012.11:g.54627976_54627990del, NC_000012.11:g.54627977_54627990del, NC_000012.11:g.54627978_54627990del, NC_000012.11:g.54627979_54627990del, NC_000012.11:g.54627980_54627990del, NC_000012.11:g.54627981_54627990del, NC_000012.11:g.54627982_54627990del, NC_000012.11:g.54627983_54627990del, NC_000012.11:g.54627984_54627990del, NC_000012.11:g.54627985_54627990del, NC_000012.11:g.54627986_54627990del, NC_000012.11:g.54627987_54627990del, NC_000012.11:g.54627988_54627990del, NC_000012.11:g.54627989_54627990del, NC_000012.11:g.54627990del, NC_000012.11:g.54627990dup, NC_000012.11:g.54627989_54627990dup, NC_000012.11:g.54627988_54627990dup, NC_000012.11:g.54627987_54627990dup, NC_000012.11:g.54627986_54627990dup, NC_000012.11:g.54627985_54627990dup, NC_000012.11:g.54627983_54627990dup, NC_000012.11:g.54627975_54627990dup, NM_012117.3:c.*7560_*7576del, NM_012117.3:c.*7561_*7576del, NM_012117.3:c.*7562_*7576del, NM_012117.3:c.*7563_*7576del, NM_012117.3:c.*7564_*7576del, NM_012117.3:c.*7565_*7576del, NM_012117.3:c.*7566_*7576del, NM_012117.3:c.*7567_*7576del, NM_012117.3:c.*7568_*7576del, NM_012117.3:c.*7569_*7576del, NM_012117.3:c.*7570_*7576del, NM_012117.3:c.*7571_*7576del, NM_012117.3:c.*7572_*7576del, NM_012117.3:c.*7573_*7576del, NM_012117.3:c.*7574_*7576del, NM_012117.3:c.*7575_*7576del, NM_012117.3:c.*7576del, NM_012117.3:c.*7576dup, NM_012117.3:c.*7575_*7576dup, NM_012117.3:c.*7574_*7576dup, NM_012117.3:c.*7573_*7576dup, NM_012117.3:c.*7572_*7576dup, NM_012117.3:c.*7571_*7576dup, NM_012117.3:c.*7569_*7576dup, NM_012117.3:c.*7561_*7576dup, NM_012117.2:c.*7560_*7576del, NM_012117.2:c.*7561_*7576del, NM_012117.2:c.*7562_*7576del, NM_012117.2:c.*7563_*7576del, NM_012117.2:c.*7564_*7576del, NM_012117.2:c.*7565_*7576del, NM_012117.2:c.*7566_*7576del, NM_012117.2:c.*7567_*7576del, NM_012117.2:c.*7568_*7576del, NM_012117.2:c.*7569_*7576del, NM_012117.2:c.*7570_*7576del, NM_012117.2:c.*7571_*7576del, NM_012117.2:c.*7572_*7576del, NM_012117.2:c.*7573_*7576del, NM_012117.2:c.*7574_*7576del, NM_012117.2:c.*7575_*7576del, NM_012117.2:c.*7576del, NM_012117.2:c.*7576dup, NM_012117.2:c.*7575_*7576dup, NM_012117.2:c.*7574_*7576dup, NM_012117.2:c.*7573_*7576dup, NM_012117.2:c.*7572_*7576dup, NM_012117.2:c.*7571_*7576dup, NM_012117.2:c.*7569_*7576dup, NM_012117.2:c.*7561_*7576dup, NM_001127322.1:c.*7560_*7576del, NM_001127322.1:c.*7561_*7576del, NM_001127322.1:c.*7562_*7576del, NM_001127322.1:c.*7563_*7576del, NM_001127322.1:c.*7564_*7576del, NM_001127322.1:c.*7565_*7576del, NM_001127322.1:c.*7566_*7576del, NM_001127322.1:c.*7567_*7576del, NM_001127322.1:c.*7568_*7576del, NM_001127322.1:c.*7569_*7576del, NM_001127322.1:c.*7570_*7576del, NM_001127322.1:c.*7571_*7576del, NM_001127322.1:c.*7572_*7576del, NM_001127322.1:c.*7573_*7576del, NM_001127322.1:c.*7574_*7576del, NM_001127322.1:c.*7575_*7576del, NM_001127322.1:c.*7576del, NM_001127322.1:c.*7576dup, NM_001127322.1:c.*7575_*7576dup, NM_001127322.1:c.*7574_*7576dup, NM_001127322.1:c.*7573_*7576dup, NM_001127322.1:c.*7572_*7576dup, NM_001127322.1:c.*7571_*7576dup, NM_001127322.1:c.*7569_*7576dup, NM_001127322.1:c.*7561_*7576dup, NM_001127321.1:c.*7560_*7576del, NM_001127321.1:c.*7561_*7576del, NM_001127321.1:c.*7562_*7576del, NM_001127321.1:c.*7563_*7576del, NM_001127321.1:c.*7564_*7576del, NM_001127321.1:c.*7565_*7576del, NM_001127321.1:c.*7566_*7576del, NM_001127321.1:c.*7567_*7576del, NM_001127321.1:c.*7568_*7576del, NM_001127321.1:c.*7569_*7576del, NM_001127321.1:c.*7570_*7576del, NM_001127321.1:c.*7571_*7576del, NM_001127321.1:c.*7572_*7576del, NM_001127321.1:c.*7573_*7576del, NM_001127321.1:c.*7574_*7576del, NM_001127321.1:c.*7575_*7576del, NM_001127321.1:c.*7576del, NM_001127321.1:c.*7576dup, NM_001127321.1:c.*7575_*7576dup, NM_001127321.1:c.*7574_*7576dup, NM_001127321.1:c.*7573_*7576dup, NM_001127321.1:c.*7572_*7576dup, NM_001127321.1:c.*7571_*7576dup, NM_001127321.1:c.*7569_*7576dup, NM_001127321.1:c.*7561_*7576dup

Select item 14909363964.

rs1490936396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:54233190 (GRCh38)
12:54626974 (GRCh37)
Canonical SPDI:: NC_000012.12:54233189:G:T
Gene:: CBX5 (Varview), MIR3198-2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.54233190G>T, NC_000012.11:g.54626974G>T, NM_012117.3:c.*8565C>A, NM_012117.2:c.*8565C>A, NM_001127322.1:c.*8565C>A, NM_001127321.1:c.*8565C>A

Select item 14902386255.

rs1490238625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:54237877 (GRCh38)
12:54631661 (GRCh37)
Canonical SPDI:: NC_000012.12:54237876:T:C
Gene:: CBX5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.54237877T>C, NC_000012.11:g.54631661T>C, NM_012117.3:c.*3878A>G, NM_012117.2:c.*3878A>G, NM_001127322.1:c.*3878A>G, NM_001127321.1:c.*3878A>G

Select item 14900478546.

rs1490047854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:54231470 (GRCh38)
12:54625254 (GRCh37)
Canonical SPDI:: NC_000012.12:54231469:C:T
Gene:: CBX5 (Varview), MIR3198-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.54231470C>T, NC_000012.11:g.54625254C>T, NM_012117.3:c.*10285G>A, NM_012117.2:c.*10285G>A, NM_001127322.1:c.*10285G>A, NM_001127321.1:c.*10285G>A, NR_039851.1:n.7G>A

Select item 14894579067.

rs1489457906 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 12:54241175 (GRCh38)
12:54634959 (GRCh37)
Canonical SPDI:: NC_000012.12:54241170:AACAACA:AACA
Gene:: CBX5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.54241172ACA[1], NC_000012.11:g.54634956ACA[1], NM_012117.3:c.*579GTT[1], NM_012117.2:c.*579GTT[1], NM_001127322.1:c.*579GTT[1], NM_001127321.1:c.*579GTT[1]

Select item 14894096998.

rs1489409699 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:54239970 (GRCh38)
12:54633754 (GRCh37)
Canonical SPDI:: NC_000012.12:54239969:T:A
Gene:: CBX5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.54239970T>A, NC_000012.11:g.54633754T>A, NM_012117.3:c.*1785A>T, NM_012117.2:c.*1785A>T, NM_001127322.1:c.*1785A>T, NM_001127321.1:c.*1785A>T

Select item 14885166239.

rs1488516623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:54231361 (GRCh38)
12:54625145 (GRCh37)
Canonical SPDI:: NC_000012.12:54231360:G:T
Gene:: CBX5 (Varview), MIR3198-2 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.54231361G>T, NC_000012.11:g.54625145G>T, NM_012117.3:c.*10394C>A, NM_012117.2:c.*10394C>A, NM_001127322.1:c.*10394C>A, NM_001127321.1:c.*10394C>A

Select item 148816893010.

rs1488168930 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:54235043 (GRCh38)
12:54628827 (GRCh37)
Canonical SPDI:: NC_000012.12:54235042:A:T
Gene:: CBX5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.54235043A>T, NC_000012.11:g.54628827A>T, NM_012117.3:c.*6712T>A, NM_012117.2:c.*6712T>A, NM_001127322.1:c.*6712T>A, NM_001127321.1:c.*6712T>A

Select item 148811760911.

rs1488117609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:54232272 (GRCh38)
12:54626056 (GRCh37)
Canonical SPDI:: NC_000012.12:54232271:G:A
Gene:: CBX5 (Varview), MIR3198-2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000066/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.54232272G>A, NC_000012.11:g.54626056G>A, NM_012117.3:c.*9483C>T, NM_012117.2:c.*9483C>T, NM_001127322.1:c.*9483C>T, NM_001127321.1:c.*9483C>T

Select item 148811041712.

rs1488110417 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGAACATATA [Show Flanks]
Chromosome:: 12:54231095 (GRCh38)
12:54624880 (GRCh37)
Canonical SPDI:: NC_000012.12:54231095:GTGAACATATA:GTGAACATATAGTGAACATATA
Gene:: CBX5 (Varview), MIR3198-2 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGAACATATAGTGAACATATA=0./0 (ALFA)
GTGAACATATA=0.000004/1 (TOPMED)
GTGAACATATA=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.54231096_54231106dup, NC_000012.11:g.54624880_54624890dup, NM_012117.3:c.*10649_*10659dup, NM_012117.2:c.*10649_*10659dup, NM_001127322.1:c.*10649_*10659dup, NM_001127321.1:c.*10649_*10659dup

Select item 148808568213.

rs1488085682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:54234750 (GRCh38)
12:54628534 (GRCh37)
Canonical SPDI:: NC_000012.12:54234749:C:A,NC_000012.12:54234749:C:G
Gene:: CBX5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.54234750C>A, NC_000012.12:g.54234750C>G, NC_000012.11:g.54628534C>A, NC_000012.11:g.54628534C>G, NM_012117.3:c.*7005G>T, NM_012117.3:c.*7005G>C, NM_012117.2:c.*7005G>T, NM_012117.2:c.*7005G>C, NM_001127322.1:c.*7005G>T, NM_001127322.1:c.*7005G>C, NM_001127321.1:c.*7005G>T, NM_001127321.1:c.*7005G>C

Select item 148712685414.

rs1487126854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:54231587 (GRCh38)
12:54625371 (GRCh37)
Canonical SPDI:: NC_000012.12:54231586:G:A
Gene:: CBX5 (Varview), MIR3198-2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.54231587G>A, NC_000012.11:g.54625371G>A, NM_012117.3:c.*10168C>T, NM_012117.2:c.*10168C>T, NM_001127322.1:c.*10168C>T, NM_001127321.1:c.*10168C>T

Select item 148676447515.

rs1486764475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:54232852 (GRCh38)
12:54626636 (GRCh37)
Canonical SPDI:: NC_000012.12:54232851:G:A
Gene:: CBX5 (Varview), MIR3198-2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.54232852G>A, NC_000012.11:g.54626636G>A, NM_012117.3:c.*8903C>T, NM_012117.2:c.*8903C>T, NM_001127322.1:c.*8903C>T, NM_001127321.1:c.*8903C>T

Select item 148664589516.

rs1486645895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:54231908 (GRCh38)
12:54625692 (GRCh37)
Canonical SPDI:: NC_000012.12:54231907:C:T
Gene:: CBX5 (Varview), MIR3198-2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.54231908C>T, NC_000012.11:g.54625692C>T, NM_012117.3:c.*9847G>A, NM_012117.2:c.*9847G>A, NM_001127322.1:c.*9847G>A, NM_001127321.1:c.*9847G>A

Select item 148629357417.

rs1486293574 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:54238430 (GRCh38)
12:54632214 (GRCh37)
Canonical SPDI:: NC_000012.12:54238429:A:T
Gene:: CBX5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.54238430A>T, NC_000012.11:g.54632214A>T, NM_012117.3:c.*3325T>A, NM_012117.2:c.*3325T>A, NM_001127322.1:c.*3325T>A, NM_001127321.1:c.*3325T>A

Select item 148593716318.

rs1485937163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:54241900 (GRCh38)
12:54635684 (GRCh37)
Canonical SPDI:: NC_000012.12:54241899:T:C
Gene:: CBX5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000198/3 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000893/4 (Estonian)
HGVS:: NC_000012.12:g.54241900T>C, NC_000012.11:g.54635684T>C, NM_012117.3:c.431A>G, NM_012117.2:c.431A>G, NM_001127322.1:c.431A>G, NM_001127321.1:c.431A>G, NP_036249.1:p.Asp144Gly, NP_001120794.1:p.Asp144Gly, NP_001120793.1:p.Asp144Gly

Select item 148564474819.

rs1485644748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:54237399 (GRCh38)
12:54631183 (GRCh37)
Canonical SPDI:: NC_000012.12:54237398:A:G,NC_000012.12:54237398:A:T
Gene:: CBX5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.54237399A>G, NC_000012.12:g.54237399A>T, NC_000012.11:g.54631183A>G, NC_000012.11:g.54631183A>T, NM_012117.3:c.*4356T>C, NM_012117.3:c.*4356T>A, NM_012117.2:c.*4356T>C, NM_012117.2:c.*4356T>A, NM_001127322.1:c.*4356T>C, NM_001127322.1:c.*4356T>A, NM_001127321.1:c.*4356T>C, NM_001127321.1:c.*4356T>A

Select item 148489956120.

rs1484899561 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:54237386 (GRCh38)
12:54631170 (GRCh37)
Canonical SPDI:: NC_000012.12:54237385:A:G
Gene:: CBX5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.54237386A>G, NC_000012.11:g.54631170A>G, NM_012117.3:c.*4369T>C, NM_012117.2:c.*4369T>C, NM_001127322.1:c.*4369T>C, NM_001127321.1:c.*4369T>C

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