SNP Links for Nucleotide (Select 300796489) - SNP

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Links from Nucleotide

Items: 1 to 20 of 512

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Select item 14906395761.

rs1490639576 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:81237808 (GRCh38)
5:80533628 (GRCh37)
Canonical SPDI:: NC_000005.10:81237808:AA:AAA
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.81237810dup, NC_000005.9:g.80533629dup, NR_034121.1:n.2496dup, NR_034122.1:n.2005dup, NR_034123.1:n.1830dup

Select item 14905865832.

rs1490586583 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 5:81238340 (GRCh38)
5:80534159 (GRCh37)
Canonical SPDI:: NC_000005.10:81238339:T:
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000106/2 (TOMMO)
-=0.000312/2 (1000Genomes)
-=0.000399/56 (GnomAD)
HGVS:: NC_000005.10:g.81238340del, NC_000005.9:g.80534159del, NR_034121.1:n.1965del, NR_034122.1:n.1474del, NR_034123.1:n.1299del

Select item 14882891063.

rs1488289106 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:81237705 (GRCh38)
5:80533524 (GRCh37)
Canonical SPDI:: NC_000005.10:81237704:A:C
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.81237705A>C, NC_000005.9:g.80533524A>C, NR_034121.1:n.2600T>G, NR_034122.1:n.2109T>G, NR_034123.1:n.1934T>G

Select item 14850435564.

rs1485043556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:81238936 (GRCh38)
5:80534755 (GRCh37)
Canonical SPDI:: NC_000005.10:81238935:T:C
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.81238936T>C, NC_000005.9:g.80534755T>C, NR_034121.1:n.1369A>G, NR_034122.1:n.878A>G, NR_034123.1:n.703A>G

Select item 14835724465.

rs1483572446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:81238852 (GRCh38)
5:80534671 (GRCh37)
Canonical SPDI:: NC_000005.10:81238851:C:T
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.81238852C>T, NC_000005.9:g.80534671C>T, NR_034121.1:n.1453G>A, NR_034122.1:n.962G>A, NR_034123.1:n.787G>A

Select item 14831807636.

rs1483180763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:81301477 (GRCh38)
5:80597296 (GRCh37)
Canonical SPDI:: NC_000005.10:81301476:T:C
Gene:: ZCCHC9 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.81301477T>C, NC_000005.9:g.80597296T>C, NR_034121.1:n.93A>G, NR_034122.1:n.93A>G, NR_034123.1:n.93A>G

Select item 14818041557.

rs1481804155 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:81237910 (GRCh38)
5:80533729 (GRCh37)
Canonical SPDI:: NC_000005.10:81237909:T:A
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.81237910T>A, NC_000005.9:g.80533729T>A, NR_034121.1:n.2395A>T, NR_034122.1:n.1904A>T, NR_034123.1:n.1729A>T

Select item 14800797618.

rs1480079761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:81238241 (GRCh38)
5:80534060 (GRCh37)
Canonical SPDI:: NC_000005.10:81238240:G:A
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
HGVS:: NC_000005.10:g.81238241G>A, NC_000005.9:g.80534060G>A, NR_034121.1:n.2064C>T, NR_034122.1:n.1573C>T, NR_034123.1:n.1398C>T

Select item 14787933099.

rs1478793309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:81239056 (GRCh38)
5:80534875 (GRCh37)
Canonical SPDI:: NC_000005.10:81239055:G:T
Gene:: CKMT2 (Varview), CKMT2-AS1 (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=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.81239056G>T, NC_000005.9:g.80534875G>T, NR_034121.1:n.1249C>A, NR_034122.1:n.758C>A, NR_034123.1:n.583C>A

Select item 147857779410.

rs1478577794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:81238635 (GRCh38)
5:80534454 (GRCh37)
Canonical SPDI:: NC_000005.10:81238634:C:A,NC_000005.10:81238634:C:T
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000057/8 (GnomAD)
T=0.000079/21 (TOPMED)
HGVS:: NC_000005.10:g.81238635C>A, NC_000005.10:g.81238635C>T, NC_000005.9:g.80534454C>A, NC_000005.9:g.80534454C>T, NR_034121.1:n.1670G>T, NR_034121.1:n.1670G>A, NR_034122.1:n.1179G>T, NR_034122.1:n.1179G>A, NR_034123.1:n.1004G>T, NR_034123.1:n.1004G>A

Select item 147849867011.

rs1478498670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:81238191 (GRCh38)
5:80534010 (GRCh37)
Canonical SPDI:: NC_000005.10:81238190:G:A
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.81238191G>A, NC_000005.9:g.80534010G>A, NR_034121.1:n.2114C>T, NR_034122.1:n.1623C>T, NR_034123.1:n.1448C>T

Select item 147386306512.

rs1473863065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:81238363 (GRCh38)
5:80534182 (GRCh37)
Canonical SPDI:: NC_000005.10:81238362:A:G
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
G=0.002478/42 (TOMMO)
HGVS:: NC_000005.10:g.81238363A>G, NC_000005.9:g.80534182A>G, NR_034121.1:n.1942T>C, NR_034122.1:n.1451T>C, NR_034123.1:n.1276T>C

Select item 147183488813.

rs1471834888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:81238475 (GRCh38)
5:80534294 (GRCh37)
Canonical SPDI:: NC_000005.10:81238474:C:T
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_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_000005.10:g.81238475C>T, NC_000005.9:g.80534294C>T, NR_034121.1:n.1830G>A, NR_034122.1:n.1339G>A, NR_034123.1:n.1164G>A

Select item 147180811614.

rs1471808116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:81301471 (GRCh38)
5:80597290 (GRCh37)
Canonical SPDI:: NC_000005.10:81301470:G:A
Gene:: ZCCHC9 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.81301471G>A, NC_000005.9:g.80597290G>A, NR_034121.1:n.99C>T, NR_034122.1:n.99C>T, NR_034123.1:n.99C>T

Select item 147131723715.

rs1471317237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:81238077 (GRCh38)
5:80533896 (GRCh37)
Canonical SPDI:: NC_000005.10:81238076:G:A
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.81238077G>A, NC_000005.9:g.80533896G>A, NR_034121.1:n.2228C>T, NR_034122.1:n.1737C>T, NR_034123.1:n.1562C>T

Select item 146995385416.

rs1469953854 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:81301547 (GRCh38)
5:80597366 (GRCh37)
Canonical SPDI:: NC_000005.10:81301546:A:G
Gene:: ZCCHC9 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.81301547A>G, NC_000005.9:g.80597366A>G, NR_034121.1:n.23T>C, NR_034122.1:n.23T>C, NR_034123.1:n.23T>C

Select item 146681454717.

rs1466814547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:81238229 (GRCh38)
5:80534048 (GRCh37)
Canonical SPDI:: NC_000005.10:81238228:G:T
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000005.10:g.81238229G>T, NC_000005.9:g.80534048G>T, NR_034121.1:n.2076C>A, NR_034122.1:n.1585C>A, NR_034123.1:n.1410C>A

Select item 146659673518.

rs1466596735 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:81238010 (GRCh38)
5:80533829 (GRCh37)
Canonical SPDI:: NC_000005.10:81238009:T:A
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.81238010T>A, NC_000005.9:g.80533829T>A, NR_034121.1:n.2295A>T, NR_034122.1:n.1804A>T, NR_034123.1:n.1629A>T

Select item 146397203619.

rs1463972036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:81238963 (GRCh38)
5:80534782 (GRCh37)
Canonical SPDI:: NC_000005.10:81238962:G:T
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.81238963G>T, NC_000005.9:g.80534782G>T, NR_034121.1:n.1342C>A, NR_034122.1:n.851C>A, NR_034123.1:n.676C>A

Select item 145695689420.

rs1456956894 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:81238737 (GRCh38)
5:80534556 (GRCh37)
Canonical SPDI:: NC_000005.10:81238736:T:C
Gene:: CKMT2 (Varview), CKMT2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.81238737T>C, NC_000005.9:g.80534556T>C, NR_034121.1:n.1568A>G, NR_034122.1:n.1077A>G, NR_034123.1:n.902A>G