SNP Links for Nucleotide (Select 262205952) - SNP

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Links from Nucleotide

Items: 1 to 20 of 29

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Select item 14648321041.

rs1464832104 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:96219693 (GRCh38)
7:95849005 (GRCh37)
Canonical SPDI:: NC_000007.14:96219692:T:C,NC_000007.14:96219692:T:G
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.96219693T>C, NC_000007.14:g.96219693T>G, NC_000007.13:g.95849005T>C, NC_000007.13:g.95849005T>G, NG_012247.2:g.107455A>G, NG_012247.2:g.107455A>C, NR_030322.1:n.64A>G, NR_030322.1:n.64A>C

Select item 14522620662.

rs1452262066 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:96219736 (GRCh38)
7:95849048 (GRCh37)
Canonical SPDI:: NC_000007.14:96219735:T:C
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000017/2 (ExAC)
HGVS:: NC_000007.14:g.96219736T>C, NC_000007.13:g.95849048T>C, NG_012247.2:g.107412A>G, NR_030322.1:n.21A>G

Select item 14498775683.

rs1449877568 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:96219664 (GRCh38)
7:95848976 (GRCh37)
Canonical SPDI:: NC_000007.14:96219663:A:C
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.96219664A>C, NC_000007.13:g.95848976A>C, NG_012247.2:g.107484T>G, NR_030322.1:n.93T>G

Select item 14492252664.

rs1449225266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:96219720 (GRCh38)
7:95849032 (GRCh37)
Canonical SPDI:: NC_000007.14:96219719:T:C
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_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_000007.14:g.96219720T>C, NC_000007.13:g.95849032T>C, NG_012247.2:g.107428A>G, NR_030322.1:n.37A>G

Select item 13851734055.

rs1385173405 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:96219721 (GRCh38)
7:95849033 (GRCh37)
Canonical SPDI:: NC_000007.14:96219720:T:C
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000007.14:g.96219721T>C, NC_000007.13:g.95849033T>C, NG_012247.2:g.107427A>G, NR_030322.1:n.36A>G

Select item 13648565206.

rs1364856520 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:96219749 (GRCh38)
7:95849061 (GRCh37)
Canonical SPDI:: NC_000007.14:96219748:T:C
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.96219749T>C, NC_000007.13:g.95849061T>C, NG_012247.2:g.107399A>G, NR_030322.1:n.8A>G

Select item 13292251117.

rs1329225111 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:96219669 (GRCh38)
7:95848981 (GRCh37)
Canonical SPDI:: NC_000007.14:96219668:T:C
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.96219669T>C, NC_000007.13:g.95848981T>C, NG_012247.2:g.107479A>G, NR_030322.1:n.88A>G

Select item 12027154518.

rs1202715451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:96219668 (GRCh38)
7:95848980 (GRCh37)
Canonical SPDI:: NC_000007.14:96219667:G:C
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000007.14:g.96219668G>C, NC_000007.13:g.95848980G>C, NG_012247.2:g.107480C>G, NR_030322.1:n.89C>G

Select item 10284016699.

rs1028401669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:96219694 (GRCh38)
7:95849006 (GRCh37)
Canonical SPDI:: NC_000007.14:96219693:C:A
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000007.14:g.96219694C>A, NC_000007.13:g.95849006C>A, NG_012247.2:g.107454G>T, NR_030322.1:n.63G>T

Select item 78118381910.

rs781183819 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:96219709 (GRCh38)
7:95849021 (GRCh37)
Canonical SPDI:: NC_000007.14:96219708:A:G,NC_000007.14:96219708:A:T
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000017/2 (ExAC)
G=0.000078/11 (GnomAD)
G=0.000087/23 (TOPMED)
HGVS:: NC_000007.14:g.96219709A>G, NC_000007.14:g.96219709A>T, NC_000007.13:g.95849021A>G, NC_000007.13:g.95849021A>T, NG_012247.2:g.107439T>C, NG_012247.2:g.107439T>A, NR_030322.1:n.48T>C, NR_030322.1:n.48T>A

Select item 77792672211.

rs777926722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:96219743 (GRCh38)
7:95849055 (GRCh37)
Canonical SPDI:: NC_000007.14:96219742:C:T
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (ExAC)
HGVS:: NC_000007.14:g.96219743C>T, NC_000007.13:g.95849055C>T, NG_012247.2:g.107405G>A, NR_030322.1:n.14G>A

Select item 77132845012.

rs771328450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:96219752 (GRCh38)
7:95849064 (GRCh37)
Canonical SPDI:: NC_000007.14:96219751:T:A
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000008/1 (ExAC)
HGVS:: NC_000007.14:g.96219752T>A, NC_000007.13:g.95849064T>A, NG_012247.2:g.107396A>T, NR_030322.1:n.5A>T

Select item 76990926913.

rs769909269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:96219742 (GRCh38)
7:95849054 (GRCh37)
Canonical SPDI:: NC_000007.14:96219741:A:C,NC_000007.14:96219741:A:G
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000008/1 (ExAC)
HGVS:: NC_000007.14:g.96219742A>C, NC_000007.14:g.96219742A>G, NC_000007.13:g.95849054A>C, NC_000007.13:g.95849054A>G, NG_012247.2:g.107406T>G, NG_012247.2:g.107406T>C, NR_030322.1:n.15T>G, NR_030322.1:n.15T>C

Select item 76508114714.

rs765081147 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 7:96219737 (GRCh38)
7:95849049 (GRCh37)
Canonical SPDI:: NC_000007.14:96219736:GG:G
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.96219738del, NC_000007.13:g.95849050del, NG_012247.2:g.107411del, NR_030322.1:n.20del

Select item 76377331215.

rs763773312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:96219671 (GRCh38)
7:95848983 (GRCh37)
Canonical SPDI:: NC_000007.14:96219670:G:T
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000009/1 (ExAC)
HGVS:: NC_000007.14:g.96219671G>T, NC_000007.13:g.95848983G>T, NG_012247.2:g.107477C>A, NR_030322.1:n.86C>A

Select item 76025888316.

rs760258883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:96219666 (GRCh38)
7:95848978 (GRCh37)
Canonical SPDI:: NC_000007.14:96219665:C:T
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000017/2 (ExAC)
T=0.000042/11 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000007.14:g.96219666C>T, NC_000007.13:g.95848978C>T, NG_012247.2:g.107482G>A, NR_030322.1:n.91G>A

Select item 76005951317.

rs760059513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:96219662 (GRCh38)
7:95848974 (GRCh37)
Canonical SPDI:: NC_000007.14:96219661:G:A,NC_000007.14:96219661:G:C,NC_000007.14:96219661:G:T
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
T=0.000248/4 (TOMMO)
HGVS:: NC_000007.14:g.96219662G>A, NC_000007.14:g.96219662G>C, NC_000007.14:g.96219662G>T, NC_000007.13:g.95848974G>A, NC_000007.13:g.95848974G>C, NC_000007.13:g.95848974G>T, NG_012247.2:g.107486C>T, NG_012247.2:g.107486C>G, NG_012247.2:g.107486C>A, NR_030322.1:n.95C>T, NR_030322.1:n.95C>G, NR_030322.1:n.95C>A

Select item 75834990518.

rs758349905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:96219707 (GRCh38)
7:95849019 (GRCh37)
Canonical SPDI:: NC_000007.14:96219706:A:T
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (ExAC)
HGVS:: NC_000007.14:g.96219707A>T, NC_000007.13:g.95849019A>T, NG_012247.2:g.107441T>A, NR_030322.1:n.50T>A

Select item 75371769719.

rs753717697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:96219673 (GRCh38)
7:95848985 (GRCh37)
Canonical SPDI:: NC_000007.14:96219672:T:A,NC_000007.14:96219672:T:C
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/1 (ExAC)
HGVS:: NC_000007.14:g.96219673T>A, NC_000007.14:g.96219673T>C, NC_000007.13:g.95848985T>A, NC_000007.13:g.95848985T>C, NG_012247.2:g.107475A>T, NG_012247.2:g.107475A>G, NR_030322.1:n.84A>T, NR_030322.1:n.84A>G

Select item 75224041820.

rs752240418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:96219665 (GRCh38)
7:95848977 (GRCh37)
Canonical SPDI:: NC_000007.14:96219664:T:C
Gene:: SLC25A13 (Varview), MIR591 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000009/1 (ExAC)
HGVS:: NC_000007.14:g.96219665T>C, NC_000007.13:g.95848977T>C, NG_012247.2:g.107483A>G, NR_030322.1:n.92A>G