SNP Links for Nucleotide (Select 94536604) - SNP

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Links from Nucleotide

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Select item 14575533181.

rs1457553318 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 20:49280708 (GRCh38)
20:47897245 (GRCh37)
Canonical SPDI:: NC_000020.11:49280704:CTTCTT:CTT
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49280705CTT[1], NC_000020.10:g.47897242CTT[1], NR_003030.1:n.23CTT[1]

Select item 14372842422.

rs1437284242 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:49280735 (GRCh38)
20:47897272 (GRCh37)
Canonical SPDI:: NC_000020.11:49280734:T:C
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49280735T>C, NC_000020.10:g.47897272T>C, NR_003030.1:n.53T>C

Select item 14226997643.

rs1422699764 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:49280764 (GRCh38)
20:47897302 (GRCh37)
Canonical SPDI:: NC_000020.11:49280764:G:GG
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00046/8 (TOMMO)
HGVS:: NC_000020.11:g.49280765dup, NC_000020.10:g.47897302dup, NR_003030.1:n.83dup

Select item 14141466994.

rs1414146699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:49280703 (GRCh38)
20:47897240 (GRCh37)
Canonical SPDI:: NC_000020.11:49280702:A:G
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49280703A>G, NC_000020.10:g.47897240A>G, NR_003030.1:n.21A>G

Select item 14109194885.

rs1410919488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:49280765 (GRCh38)
20:47897302 (GRCh37)
Canonical SPDI:: NC_000020.11:49280764:G:C
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49280765G>C, NC_000020.10:g.47897302G>C, NR_003030.1:n.83G>C

Select item 13953835376.

rs1395383537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:49280753 (GRCh38)
20:47897290 (GRCh37)
Canonical SPDI:: NC_000020.11:49280752:G:A,NC_000020.11:49280752:G:C
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.49280753G>A, NC_000020.11:g.49280753G>C, NC_000020.10:g.47897290G>A, NC_000020.10:g.47897290G>C, NR_003030.1:n.71G>A, NR_003030.1:n.71G>C

Select item 13706446137.

rs1370644613 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:49280761 (GRCh38)
20:47897298 (GRCh37)
Canonical SPDI:: NC_000020.11:49280760:T:C
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49280761T>C, NC_000020.10:g.47897298T>C, NR_003030.1:n.79T>C

Select item 13127096268.

rs1312709626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:49280766 (GRCh38)
20:47897303 (GRCh37)
Canonical SPDI:: NC_000020.11:49280765:C:A,NC_000020.11:49280765:C:T
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
T=0.00006/1 (TOMMO)
HGVS:: NC_000020.11:g.49280766C>A, NC_000020.11:g.49280766C>T, NC_000020.10:g.47897303C>A, NC_000020.10:g.47897303C>T, NR_003030.1:n.84C>A, NR_003030.1:n.84C>T

Select item 12869738979.

rs1286973897 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:49280722 (GRCh38)
20:47897259 (GRCh37)
Canonical SPDI:: NC_000020.11:49280721:T:C
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49280722T>C, NC_000020.10:g.47897259T>C, NR_003030.1:n.40T>C

Select item 125573021310.

rs1255730213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:49280686 (GRCh38)
20:47897223 (GRCh37)
Canonical SPDI:: NC_000020.11:49280685:T:A
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.49280686T>A, NC_000020.10:g.47897223T>A, NR_003030.1:n.4T>A

Select item 124730870511.

rs1247308705 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:49280700 (GRCh38)
20:47897238 (GRCh37)
Canonical SPDI:: NC_000020.11:49280700:A:AA
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000020.11:g.49280701dup, NC_000020.10:g.47897238dup, NR_003030.1:n.19dup

Select item 121184700512.

rs1211847005 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAT>- [Show Flanks]
Chromosome:: 20:49280733 (GRCh38)
20:47897270 (GRCh37)
Canonical SPDI:: NC_000020.11:49280731:TGAT:T
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49280733_49280735del, NC_000020.10:g.47897270_47897272del, NR_003030.1:n.51_53del

Select item 120616475913.

rs1206164759 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:49280706 (GRCh38)
20:47897243 (GRCh37)
Canonical SPDI:: NC_000020.11:49280705:T:A
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,non_coding_transcript_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_000020.11:g.49280706T>A, NC_000020.10:g.47897243T>A, NR_003030.1:n.24T>A

Select item 120129094314.

rs1201290943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:49280698 (GRCh38)
20:47897235 (GRCh37)
Canonical SPDI:: NC_000020.11:49280697:G:T
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.49280698G>T, NC_000020.10:g.47897235G>T, NR_003030.1:n.16G>T

Select item 118715148415.

rs1187151484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:49280741 (GRCh38)
20:47897278 (GRCh37)
Canonical SPDI:: NC_000020.11:49280740:C:G
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49280741C>G, NC_000020.10:g.47897278C>G, NR_003030.1:n.59C>G

Select item 118392474016.

rs1183924740 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAT>- [Show Flanks]
Chromosome:: 20:49280698 (GRCh38)
20:47897235 (GRCh37)
Canonical SPDI:: NC_000020.11:49280693:TGATGAT:TGAT
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.49280695GAT[1], NC_000020.10:g.47897232GAT[1], NR_003030.1:n.13GAT[1]

Select item 118016878417.

rs1180168784 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACTA>- [Show Flanks]
Chromosome:: 20:49280741 (GRCh38)
20:47897278 (GRCh37)
Canonical SPDI:: NC_000020.11:49280737:CTACACTA:CTA
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTA=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49280741_49280745del, NC_000020.10:g.47897278_47897282del, NR_003030.1:n.59_63del

Select item 116344362918.

rs1163443629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:49280751 (GRCh38)
20:47897288 (GRCh37)
Canonical SPDI:: NC_000020.11:49280750:C:T
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.49280751C>T, NC_000020.10:g.47897288C>T, NR_003030.1:n.69C>T

Select item 105725094619.

rs1057250946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:49280712 (GRCh38)
20:47897249 (GRCh37)
Canonical SPDI:: NC_000020.11:49280711:C:G
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000020.11:g.49280712C>G, NC_000020.10:g.47897249C>G, NR_003030.1:n.30C>G

Select item 100488715420.

rs1004887154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:49280716 (GRCh38)
20:47897253 (GRCh37)
Canonical SPDI:: NC_000020.11:49280715:A:G
Gene:: ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.49280716A>G, NC_000020.10:g.47897253A>G, NR_003030.1:n.34A>G