SNP Links for Nucleotide (Select 229892271) - SNP

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Links from Nucleotide

Items: 1 to 20 of 446

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Select item 14911279831.

rs1491127983 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 15:50946563 (GRCh38)
15:51238760 (GRCh37)
Canonical SPDI:: NC_000015.10:50946562:GA:
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50946563_50946564del, NC_000015.9:g.51238760_51238761del, NG_031875.2:g.42892_42893del, NR_027642.1:n.2435_2436del

Select item 14892579812.

rs1489257981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50945575 (GRCh38)
15:51237772 (GRCh37)
Canonical SPDI:: NC_000015.10:50945574:C:T
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.50945575C>T, NC_000015.9:g.51237772C>T, NG_031875.2:g.41904C>T, NR_027642.1:n.1447C>T

Select item 14888486453.

rs1488848645 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:50946243 (GRCh38)
15:51238440 (GRCh37)
Canonical SPDI:: NC_000015.10:50946242:T:C
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_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_000015.10:g.50946243T>C, NC_000015.9:g.51238440T>C, NG_031875.2:g.42572T>C, NR_027642.1:n.2115T>C

Select item 14816036604.

rs1481603660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50945402 (GRCh38)
15:51237599 (GRCh37)
Canonical SPDI:: NC_000015.10:50945401:C:T
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50945402C>T, NC_000015.9:g.51237599C>T, NG_031875.2:g.41731C>T, NR_027642.1:n.1274C>T

Select item 14806224575.

rs1480622457 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCACCAAGATGGAG>- [Show Flanks]
Chromosome:: 15:50944851 (GRCh38)
15:51237048 (GRCh37)
Canonical SPDI:: NC_000015.10:50944849:GGTCACCAAGATGGAG:G
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.50944851_50944865del, NC_000015.9:g.51237048_51237062del, NG_031875.2:g.41180_41194del, NR_027642.1:n.723_737del

Select item 14803616356.

rs1480361635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50944257 (GRCh38)
15:51236454 (GRCh37)
Canonical SPDI:: NC_000015.10:50944256:C:T
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_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_000015.10:g.50944257C>T, NC_000015.9:g.51236454C>T, NG_031875.2:g.40586C>T, NR_027642.1:n.129C>T

Select item 14798705937.

rs1479870593 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:50946562 (GRCh38)
15:51238760 (GRCh37)
Canonical SPDI:: NC_000015.10:50946562:G:GG
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.50946563dup, NC_000015.9:g.51238760dup, NG_031875.2:g.42892dup, NR_027642.1:n.2435dup

Select item 14772720728.

rs1477272072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50944395 (GRCh38)
15:51236592 (GRCh37)
Canonical SPDI:: NC_000015.10:50944394:C:T
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.50944395C>T, NC_000015.9:g.51236592C>T, NG_031875.2:g.40724C>T, NR_027642.1:n.267C>T

Select item 14731477659.

rs1473147765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:50945783 (GRCh38)
15:51237980 (GRCh37)
Canonical SPDI:: NC_000015.10:50945782:C:A
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_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_000015.10:g.50945783C>A, NC_000015.9:g.51237980C>A, NG_031875.2:g.42112C>A, NR_027642.1:n.1655C>A

Select item 147311599610.

rs1473115996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50944943 (GRCh38)
15:51237140 (GRCh37)
Canonical SPDI:: NC_000015.10:50944942:A:G
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0./0 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.50944943A>G, NC_000015.9:g.51237140A>G, NG_031875.2:g.41272A>G, NR_027642.1:n.815A>G

Select item 147267834211.

rs1472678342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:50946306 (GRCh38)
15:51238503 (GRCh37)
Canonical SPDI:: NC_000015.10:50946305:A:C,NC_000015.10:50946305:A:G
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.50946306A>C, NC_000015.10:g.50946306A>G, NC_000015.9:g.51238503A>C, NC_000015.9:g.51238503A>G, NG_031875.2:g.42635A>C, NG_031875.2:g.42635A>G, NR_027642.1:n.2178A>C, NR_027642.1:n.2178A>G

Select item 147117126812.

rs1471171268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:50945553 (GRCh38)
15:51237750 (GRCh37)
Canonical SPDI:: NC_000015.10:50945552:G:A,NC_000015.10:50945552:G:T
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.50945553G>A, NC_000015.10:g.50945553G>T, NC_000015.9:g.51237750G>A, NC_000015.9:g.51237750G>T, NG_031875.2:g.41882G>A, NG_031875.2:g.41882G>T, NR_027642.1:n.1425G>A, NR_027642.1:n.1425G>T

Select item 147093437513.

rs1470934375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50944973 (GRCh38)
15:51237170 (GRCh37)
Canonical SPDI:: NC_000015.10:50944972:A:G
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.50944973A>G, NC_000015.9:g.51237170A>G, NG_031875.2:g.41302A>G, NR_027642.1:n.845A>G

Select item 147066096214.

rs1470660962 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 15:50944359 (GRCh38)
15:51236556 (GRCh37)
Canonical SPDI:: NC_000015.10:50944358:CC:C
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.50944360del, NC_000015.9:g.51236557del, NG_031875.2:g.40689del, NR_027642.1:n.232del

Select item 146536325315.

rs1465363253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:50945307 (GRCh38)
15:51237504 (GRCh37)
Canonical SPDI:: NC_000015.10:50945306:G:A
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.50945307G>A, NC_000015.9:g.51237504G>A, NG_031875.2:g.41636G>A, NR_027642.1:n.1179G>A

Select item 146492255416.

rs1464922554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:50946051 (GRCh38)
15:51238248 (GRCh37)
Canonical SPDI:: NC_000015.10:50946050:G:C
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_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_000015.10:g.50946051G>C, NC_000015.9:g.51238248G>C, NG_031875.2:g.42380G>C, NR_027642.1:n.1923G>C

Select item 145933738617.

rs1459337386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:50946262 (GRCh38)
15:51238459 (GRCh37)
Canonical SPDI:: NC_000015.10:50946261:C:A,NC_000015.10:50946261:C:G
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.50946262C>A, NC_000015.10:g.50946262C>G, NC_000015.9:g.51238459C>A, NC_000015.9:g.51238459C>G, NG_031875.2:g.42591C>A, NG_031875.2:g.42591C>G, NR_027642.1:n.2134C>A, NR_027642.1:n.2134C>G

Select item 145870774318.

rs1458707743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50946094 (GRCh38)
15:51238291 (GRCh37)
Canonical SPDI:: NC_000015.10:50946093:A:G
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.50946094A>G, NC_000015.9:g.51238291A>G, NG_031875.2:g.42423A>G, NR_027642.1:n.1966A>G

Select item 145736792719.

rs1457367927 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:50945584 (GRCh38)
15:51237781 (GRCh37)
Canonical SPDI:: NC_000015.10:50945583:T:C
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.50945584T>C, NC_000015.9:g.51237781T>C, NG_031875.2:g.41913T>C, NR_027642.1:n.1456T>C

Select item 145708290820.

rs1457082908 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:50945244 (GRCh38)
15:51237442 (GRCh37)
Canonical SPDI:: NC_000015.10:50945244:A:AA
Gene:: AP4E1 (Varview), DCAF13P3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000057/15 (TOPMED)
A=0.000064/9 (GnomAD)
HGVS:: NC_000015.10:g.50945245dup, NC_000015.9:g.51237442dup, NG_031875.2:g.41574dup, NR_027642.1:n.1117dup