SNP Links for Nucleotide (Select 302318964) - SNP

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Links from Nucleotide

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Select item 14901815081.

rs1490181508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:9811193 (GRCh38)
11:9832740 (GRCh37)
Canonical SPDI:: NC_000011.10:9811192:T:G
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.9811193T>G, NC_000011.9:g.9832740T>G, NG_008074.1:g.488015A>C, NR_036485.1:n.2582T>G

Select item 14885258872.

rs1488525887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:9811259 (GRCh38)
11:9832806 (GRCh37)
Canonical SPDI:: NC_000011.10:9811258:T:C
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.9811259T>C, NC_000011.9:g.9832806T>C, NG_008074.1:g.487949A>G, NR_036485.1:n.2648T>C

Select item 14880335063.

rs1488033506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:9808721 (GRCh38)
11:9830268 (GRCh37)
Canonical SPDI:: NC_000011.10:9808720:C:T
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.9808721C>T, NC_000011.9:g.9830268C>T, NG_008074.1:g.490487G>A, NR_036485.1:n.1085C>T

Select item 14847720444.

rs1484772044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:9810924 (GRCh38)
11:9832471 (GRCh37)
Canonical SPDI:: NC_000011.10:9810923:C:T
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.9810924C>T, NC_000011.9:g.9832471C>T, NG_008074.1:g.488284G>A, NR_036485.1:n.2313C>T

Select item 14815195355.

rs1481519535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:9809156 (GRCh38)
11:9830703 (GRCh37)
Canonical SPDI:: NC_000011.10:9809155:C:A
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.9809156C>A, NC_000011.9:g.9830703C>A, NG_008074.1:g.490052G>T, NR_036485.1:n.1520C>A

Select item 14806954176.

rs1480695417 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:9808725 (GRCh38)
11:9830272 (GRCh37)
Canonical SPDI:: NC_000011.10:9808724:GGGG:GGG
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000049/13 (TOPMED)
-=0.000086/12 (GnomAD)
HGVS:: NC_000011.10:g.9808728del, NC_000011.9:g.9830275del, NG_008074.1:g.490483del, NR_036485.1:n.1092del

Select item 14797549987.

rs1479754998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:9808181 (GRCh38)
11:9829728 (GRCh37)
Canonical SPDI:: NC_000011.10:9808180:G:A
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.9808181G>A, NC_000011.9:g.9829728G>A, NG_008074.1:g.491027C>T, NM_030962.4:c.4262C>T, NM_030962.3:c.4262C>T, NM_001386339.1:c.4358C>T, NM_001386342.1:c.4133C>T, XM_047427657.1:c.4358C>T, NR_036485.1:n.545G>A, NP_112224.1:p.Thr1421Ile, NP_001373268.1:p.Thr1453Ile, NP_001373271.1:p.Thr1378Ile, XP_047283613.1:p.Thr1453Ile

Select item 14782056188.

rs1478205618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:9810349 (GRCh38)
11:9831896 (GRCh37)
Canonical SPDI:: NC_000011.10:9810348:T:C
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_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_000011.10:g.9810349T>C, NC_000011.9:g.9831896T>C, NG_008074.1:g.488859A>G, NR_036485.1:n.1738T>C

Select item 14774036559.

rs1477403655 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:9808024 (GRCh38)
11:9829571 (GRCh37)
Canonical SPDI:: NC_000011.10:9808023:T:A
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.9808024T>A, NC_000011.9:g.9829571T>A, NG_008074.1:g.491184A>T, NM_030962.4:c.4419A>T, NM_030962.3:c.4419A>T, NM_001386339.1:c.4515A>T, NM_001386342.1:c.4290A>T, XM_047427657.1:c.4515A>T, NR_036485.1:n.388T>A, NP_112224.1:p.Leu1473Phe, NP_001373268.1:p.Leu1505Phe, NP_001373271.1:p.Leu1430Phe, XP_047283613.1:p.Leu1505Phe

Select item 147711334010.

rs1477113340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:9811075 (GRCh38)
11:9832622 (GRCh37)
Canonical SPDI:: NC_000011.10:9811074:C:A
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.9811075C>A, NC_000011.9:g.9832622C>A, NG_008074.1:g.488133G>T, NR_036485.1:n.2464C>A

Select item 147652980311.

rs1476529803 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGAAAAAA>- [Show Flanks]
Chromosome:: 11:9810526 (GRCh38)
11:9832073 (GRCh37)
Canonical SPDI:: NC_000011.10:9810521:AAAAATGAAAAAA:AAAA
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.9810526_9810534del, NC_000011.9:g.9832073_9832081del, NG_008074.1:g.488678_488686del, NR_036485.1:n.1915_1923del

Select item 147565727712.

rs1475657277 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:9809103 (GRCh38)
11:9830651 (GRCh37)
Canonical SPDI:: NC_000011.10:9809103:AAA:AAAA
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.9809106dup, NC_000011.9:g.9830653dup, NG_008074.1:g.490104dup, NR_036485.1:n.1470dup

Select item 147150665813.

rs1471506658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:9758370 (GRCh38)
11:9779917 (GRCh37)
Canonical SPDI:: NC_000011.10:9758369:C:T
Gene:: SBF2-AS1 (Varview), LINC02709 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.9758370C>T, NC_000011.9:g.9779917C>T, NR_036485.1:n.78C>T

Select item 147087983114.

rs1470879831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:9809056 (GRCh38)
11:9830603 (GRCh37)
Canonical SPDI:: NC_000011.10:9809055:G:T
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_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_000011.10:g.9809056G>T, NC_000011.9:g.9830603G>T, NG_008074.1:g.490152C>A, NR_036485.1:n.1420G>T

Select item 146987223015.

rs1469872230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:9808571 (GRCh38)
11:9830118 (GRCh37)
Canonical SPDI:: NC_000011.10:9808570:C:T
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.9808571C>T, NC_000011.9:g.9830118C>T, NG_008074.1:g.490637G>A, NR_036485.1:n.935C>T

Select item 146905227816.

rs1469052278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:9810660 (GRCh38)
11:9832207 (GRCh37)
Canonical SPDI:: NC_000011.10:9810659:G:A
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.9810660G>A, NC_000011.9:g.9832207G>A, NG_008074.1:g.488548C>T, NR_036485.1:n.2049G>A

Select item 146878029417.

rs1468780294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:9807878 (GRCh38)
11:9829425 (GRCh37)
Canonical SPDI:: NC_000011.10:9807877:G:A
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.9807878G>A, NC_000011.9:g.9829425G>A, NG_008074.1:g.491330C>T, NR_036485.1:n.242G>A

Select item 146869518218.

rs1468695182 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:9807953 (GRCh38)
11:9829500 (GRCh37)
Canonical SPDI:: NC_000011.10:9807952:T:C
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.9807953T>C, NC_000011.9:g.9829500T>C, NG_008074.1:g.491255A>G, NR_036485.1:n.317T>C

Select item 146852414419.

rs1468524144 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:9811280 (GRCh38)
11:9832827 (GRCh37)
Canonical SPDI:: NC_000011.10:9811279:C:T
Gene:: SBF2 (Varview), SBF2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.9811280C>T, NC_000011.9:g.9832827C>T, NG_008074.1:g.487928G>A, NR_036485.1:n.2669C>T

Select item 146788661420.

rs1467886614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:9758375 (GRCh38)
11:9779922 (GRCh37)
Canonical SPDI:: NC_000011.10:9758374:C:T
Gene:: SBF2-AS1 (Varview), LINC02709 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.9758375C>T, NC_000011.9:g.9779922C>T, NR_036485.1:n.83C>T

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