SNP Links for Nucleotide (Select 299829195) - SNP

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Links from Nucleotide

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Select item 14914091661.

rs1491409166 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 8:116874891 (GRCh38)
8:117887130 (GRCh37)
Canonical SPDI:: NC_000008.11:116874889:CTC:C
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002572/42 (ALFA)
-=0.000447/2 (Estonian)
-=0.000657/8 (ExAC)
-=0.003352/446 (GnomAD_exomes)
-=0.003968/543 (GnomAD)
-=0.006667/4 (NorthernSweden)
-=0.032276/59 (Korea1K)
-=0.0708/1169 (TOMMO)
HGVS:: NC_000008.11:g.116874891_116874892del, NC_000008.10:g.117887130_117887131del, NG_032862.1:g.4976_4977del, NR_033886.1:n.468_469del

Select item 14913298272.

rs1491329827 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GCCG [Show Flanks]
Chromosome:: 8:116874883 (GRCh38)
8:117887123 (GRCh37)
Canonical SPDI:: NC_000008.11:116874883::G,NC_000008.11:116874883::GCCG
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GCCG=0./0 (ALFA)
G=0.00003/2 (GnomAD)
HGVS:: NC_000008.11:g.116874883_116874884insG, NC_000008.11:g.116874883_116874884insGCCG, NC_000008.10:g.117887122_117887123insG, NC_000008.10:g.117887122_117887123insGCCG, NG_032862.1:g.4983_4984insC, NG_032862.1:g.4983_4984insCGGC, NR_033886.1:n.460_461insG, NR_033886.1:n.460_461insGCCG

Select item 14912603733.

rs1491260373 has merged into rs200067374 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 8:116876595 (GRCh38)
8:117888834 (GRCh37)
Canonical SPDI:: NC_000008.11:116876587:AAAAAAAAA:AAAAAAA,NC_000008.11:116876587:AAAAAAAAA:AAAAAAAA,NC_000008.11:116876587:AAAAAAAAA:AAAAAAAAAA
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.01645/61 (TWINSUK)
-=0.02154/83 (ALSPAC)
-=0.02333/14 (NorthernSweden)
-=0.03817/171 (Estonian)
-=0.14192/260 (Korea1K)
HGVS:: NC_000008.11:g.116876595_116876596del, NC_000008.11:g.116876596del, NC_000008.11:g.116876596dup, NC_000008.10:g.117888834_117888835del, NC_000008.10:g.117888835del, NC_000008.10:g.117888835dup, NG_032862.1:g.3278_3279del, NG_032862.1:g.3279del, NG_032862.1:g.3279dup, NR_033886.1:n.1737_1738del, NR_033886.1:n.1738del, NR_033886.1:n.1738dup

Select item 14911770914.

rs1491177091 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:116876588 (GRCh38)
8:117888828 (GRCh37)
Canonical SPDI:: NC_000008.11:116876588::C
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.0002/53 (TOPMED)
C=0.000237/30 (GnomAD)
HGVS:: NC_000008.11:g.116876588_116876589insC, NC_000008.10:g.117888827_117888828insC, NG_032862.1:g.3278_3279insG, NR_033886.1:n.1730_1731insC

Select item 14910930565.

rs1491093056 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:116876587 (GRCh38)
8:117888826 (GRCh37)
Canonical SPDI:: NC_000008.11:116876586:CA:
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.116876587_116876588del, NC_000008.10:g.117888826_117888827del, NG_032862.1:g.3279_3280del, NR_033886.1:n.1729_1730del

Select item 14896508636.

rs1489650863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:116874967 (GRCh38)
8:117887206 (GRCh37)
Canonical SPDI:: NC_000008.11:116874966:C:T
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.116874967C>T, NC_000008.10:g.117887206C>T, NG_032862.1:g.4900G>A, NR_033886.1:n.544C>T

Select item 14893408497.

rs1489340849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:116876210 (GRCh38)
8:117888449 (GRCh37)
Canonical SPDI:: NC_000008.11:116876209:A:G
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.116876210A>G, NC_000008.10:g.117888449A>G, NG_032862.1:g.3657T>C, NR_033886.1:n.1352A>G

Select item 14886109238.

rs1488610923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:116876372 (GRCh38)
8:117888611 (GRCh37)
Canonical SPDI:: NC_000008.11:116876371:G:A
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.116876372G>A, NC_000008.10:g.117888611G>A, NG_032862.1:g.3495C>T, NR_033886.1:n.1514G>A

Select item 14882846719.

rs1488284671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:116876682 (GRCh38)
8:117888921 (GRCh37)
Canonical SPDI:: NC_000008.11:116876681:G:C
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.116876682G>C, NC_000008.10:g.117888921G>C, NG_032862.1:g.3185C>G, NR_033886.1:n.1824G>C

Select item 148700881310.

rs1487008813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:116876834 (GRCh38)
8:117889073 (GRCh37)
Canonical SPDI:: NC_000008.11:116876833:C:T
Gene:: RAD21-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.116876834C>T, NC_000008.10:g.117889073C>T, NG_032862.1:g.3033G>A, NR_033886.1:n.1976C>T

Select item 148686954611.

rs1486869546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:116874572 (GRCh38)
8:117886811 (GRCh37)
Canonical SPDI:: NC_000008.11:116874571:G:A
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.116874572G>A, NC_000008.10:g.117886811G>A, NG_032862.1:g.5295C>T, NR_033886.1:n.149G>A

Select item 148620660512.

rs1486206605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:116876583 (GRCh38)
8:117888822 (GRCh37)
Canonical SPDI:: NC_000008.11:116876582:C:A,NC_000008.11:116876582:C:T
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00007/1 (TOMMO)
HGVS:: NC_000008.11:g.116876583C>A, NC_000008.11:g.116876583C>T, NC_000008.10:g.117888822C>A, NC_000008.10:g.117888822C>T, NG_032862.1:g.3284G>T, NG_032862.1:g.3284G>A, NR_033886.1:n.1725C>A, NR_033886.1:n.1725C>T

Select item 148501379913.

rs1485013799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:116875840 (GRCh38)
8:117888079 (GRCh37)
Canonical SPDI:: NC_000008.11:116875839:T:C
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.116875840T>C, NC_000008.10:g.117888079T>C, NG_032862.1:g.4027A>G, NR_033886.1:n.982T>C

Select item 148328002614.

rs1483280026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:116875932 (GRCh38)
8:117888171 (GRCh37)
Canonical SPDI:: NC_000008.11:116875931:C:T
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.116875932C>T, NC_000008.10:g.117888171C>T, NG_032862.1:g.3935G>A, NR_033886.1:n.1074C>T

Select item 148314515415.

rs1483145154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:116875440 (GRCh38)
8:117887679 (GRCh37)
Canonical SPDI:: NC_000008.11:116875439:A:G
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000008.11:g.116875440A>G, NC_000008.10:g.117887679A>G, NG_032862.1:g.4427T>C, NR_033886.1:n.582A>G

Select item 148133384916.

rs1481333849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:116876151 (GRCh38)
8:117888390 (GRCh37)
Canonical SPDI:: NC_000008.11:116876150:C:G
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.116876151C>G, NC_000008.10:g.117888390C>G, NG_032862.1:g.3716G>C, NR_033886.1:n.1293C>G

Select item 148063114317.

rs1480631143 [Homo sapiens]

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

Select item 147938439918.

rs1479384399 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGAG>- [Show Flanks]
Chromosome:: 8:116874572 (GRCh38)
8:117886811 (GRCh37)
Canonical SPDI:: NC_000008.11:116874566:GGGAGGGAG:GGGAG
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGAG=0.000214/3 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.000322/45 (GnomAD)
-=0.00037/98 (TOPMED)
HGVS:: NC_000008.11:g.116874568GGAG[1], NC_000008.10:g.117886807GGAG[1], NG_032862.1:g.5293TCCC[1], NR_033886.1:n.145GGAG[1]

Select item 147803069319.

rs1478030693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:116876464 (GRCh38)
8:117888703 (GRCh37)
Canonical SPDI:: NC_000008.11:116876463:C:G
Gene:: RAD21 (Varview), RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.116876464C>G, NC_000008.10:g.117888703C>G, NG_032862.1:g.3403G>C, NR_033886.1:n.1606C>G

Select item 147770087920.

rs1477700879 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 8:116876797 (GRCh38)
8:117889036 (GRCh37)
Canonical SPDI:: NC_000008.11:116876796:GG:G
Gene:: RAD21-AS1 (Varview), MIR3610 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.116876798del, NC_000008.10:g.117889037del, NG_032862.1:g.3070del, NR_033886.1:n.1940del

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