SNP Links for Nucleotide (Select 583966187) - SNP

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Links from Nucleotide

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Select item 14913619031.

rs1491361903 has merged into rs10628940 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA,CACACA [Show Flanks]
Chromosome:: 22:37354558 (GRCh38)
22:37750598 (GRCh37)
Canonical SPDI:: NC_000022.11:37354544:ACACACACACACACA:ACACACACACACA,NC_000022.11:37354544:ACACACACACACACA:ACACACACACACACACA,NC_000022.11:37354544:ACACACACACACACA:ACACACACACACACACACA
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACA=0./0 (ALFA)
AC=0.20633/378 (Korea1K)
AC=0.26247/4399 (TOMMO)
AC=0.26265/1682 (1000Genomes)
AC=0.325/13 (GENOME_DK)
AC=0.38377/383 (GoNL)
AC=0.40045/1794 (Estonian)
AC=0.41333/248 (NorthernSweden)
HGVS:: NC_000022.11:g.37354546CA[6], NC_000022.11:g.37354546CA[8], NC_000022.11:g.37354546CA[9], NC_000022.10:g.37750586CA[6], NC_000022.10:g.37750586CA[8], NC_000022.10:g.37750586CA[9], NR_110515.1:n.282GT[6], NR_110515.1:n.282GT[8], NR_110515.1:n.282GT[9]

Select item 14904370192.

rs1490437019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:37354411 (GRCh38)
22:37750451 (GRCh37)
Canonical SPDI:: NC_000022.11:37354410:T:C
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.37354411T>C, NC_000022.10:g.37750451T>C, NR_110515.1:n.429A>G

Select item 14887411803.

rs1488741180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37353762 (GRCh38)
22:37749802 (GRCh37)
Canonical SPDI:: NC_000022.11:37353761:C:T
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000022.11:g.37353762C>T, NC_000022.10:g.37749802C>T, NR_110515.1:n.1078G>A

Select item 14879542264.

rs1487954226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:37354522 (GRCh38)
22:37750562 (GRCh37)
Canonical SPDI:: NC_000022.11:37354521:G:C
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.37354522G>C, NC_000022.10:g.37750562G>C, NR_110515.1:n.318C>G

Select item 14832373335.

rs1483237333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37353217 (GRCh38)
22:37749257 (GRCh37)
Canonical SPDI:: NC_000022.11:37353216:G:A
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.37353217G>A, NC_000022.10:g.37749257G>A, NR_110515.1:n.1623C>T

Select item 14807417706.

rs1480741770 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TAACATGC [Show Flanks]
Chromosome:: 22:37354636 (GRCh38)
22:37750677 (GRCh37)
Canonical SPDI:: NC_000022.11:37354636::TA,NC_000022.11:37354636::TAACATGC
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: TA=0.00007/2 (TOMMO)
HGVS:: NC_000022.11:g.37354636_37354637insTA, NC_000022.11:g.37354636_37354637insTAACATGC, NC_000022.10:g.37750676_37750677insTA, NC_000022.10:g.37750676_37750677insTAACATGC, NR_110515.1:n.203_204insTA, NR_110515.1:n.203_204insGCATGTTA

Select item 14799740087.

rs1479974008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:37352252 (GRCh38)
22:37748292 (GRCh37)
Canonical SPDI:: NC_000022.11:37352251:A:C
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_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_000022.11:g.37352252A>C, NC_000022.10:g.37748292A>C, NR_110515.1:n.1903T>G

Select item 14787915468.

rs1478791546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:37353546 (GRCh38)
22:37749586 (GRCh37)
Canonical SPDI:: NC_000022.11:37353545:C:G,NC_000022.11:37353545:C:T
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.37353546C>G, NC_000022.11:g.37353546C>T, NC_000022.10:g.37749586C>G, NC_000022.10:g.37749586C>T, NR_110515.1:n.1294G>C, NR_110515.1:n.1294G>A

Select item 14773856099.

rs1477385609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 22:37353656 (GRCh38)
22:37749696 (GRCh37)
Canonical SPDI:: NC_000022.11:37353655:T:A,NC_000022.11:37353655:T:C
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000022.11:g.37353656T>A, NC_000022.11:g.37353656T>C, NC_000022.10:g.37749696T>A, NC_000022.10:g.37749696T>C, NR_110515.1:n.1184A>T, NR_110515.1:n.1184A>G

Select item 147733401910.

rs1477334019 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:37354565 (GRCh38)
22:37750605 (GRCh37)
Canonical SPDI:: NC_000022.11:37354564:A:T
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_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_000022.11:g.37354565A>T, NC_000022.10:g.37750605A>T, NR_110515.1:n.275T>A

Select item 147725082311.

rs1477250823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:37354381 (GRCh38)
22:37750421 (GRCh37)
Canonical SPDI:: NC_000022.11:37354380:C:G,NC_000022.11:37354380:C:T
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.37354381C>G, NC_000022.11:g.37354381C>T, NC_000022.10:g.37750421C>G, NC_000022.10:g.37750421C>T, NR_110515.1:n.459G>C, NR_110515.1:n.459G>A

Select item 147179623212.

rs1471796232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:37354661 (GRCh38)
22:37750701 (GRCh37)
Canonical SPDI:: NC_000022.11:37354660:A:T
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.37354661A>T, NC_000022.10:g.37750701A>T, NR_110515.1:n.179T>A

Select item 147168340813.

rs1471683408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:37353788 (GRCh38)
22:37749828 (GRCh37)
Canonical SPDI:: NC_000022.11:37353787:C:G
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_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_000022.11:g.37353788C>G, NC_000022.10:g.37749828C>G, NR_110515.1:n.1052G>C

Select item 147034352414.

rs1470343524 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 22:37354800 (GRCh38)
22:37750840 (GRCh37)
Canonical SPDI:: NC_000022.11:37354799:G:
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.37354800del, NC_000022.10:g.37750840del, NR_110515.1:n.40del

Select item 146782422115.

rs1467824221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:37354820 (GRCh38)
22:37750860 (GRCh37)
Canonical SPDI:: NC_000022.11:37354819:C:G
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.37354820C>G, NC_000022.10:g.37750860C>G, NR_110515.1:n.20G>C

Select item 146661402616.

rs1466614026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:37353626 (GRCh38)
22:37749666 (GRCh37)
Canonical SPDI:: NC_000022.11:37353625:A:G
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.37353626A>G, NC_000022.10:g.37749666A>G, NR_110515.1:n.1214T>C

Select item 146628676717.

rs1466286767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:37353320 (GRCh38)
22:37749360 (GRCh37)
Canonical SPDI:: NC_000022.11:37353319:G:A
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000123/2 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000022/3 (GnomAD)
A=0.00045/2 (Estonian)
HGVS:: NC_000022.11:g.37353320G>A, NC_000022.10:g.37749360G>A, NR_110515.1:n.1520C>T

Select item 146544873418.

rs1465448734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:37354021 (GRCh38)
22:37750061 (GRCh37)
Canonical SPDI:: NC_000022.11:37354020:C:T
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000022.11:g.37354021C>T, NC_000022.10:g.37750061C>T, NR_110515.1:n.819G>A

Select item 146544560719.

rs1465445607 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 22:37353170 (GRCh38)
22:37749210 (GRCh37)
Canonical SPDI:: NC_000022.11:37353169:T:
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000022.11:g.37353170del, NC_000022.10:g.37749210del, NR_110515.1:n.1670del

Select item 146250614420.

rs1462506144 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:37354692 (GRCh38)
22:37750732 (GRCh37)
Canonical SPDI:: NC_000022.11:37354691:C:A
Gene:: ELFN2 (Varview), LOC100506271 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.37354692C>A, NC_000022.10:g.37750732C>A, NR_110515.1:n.148G>T