SNP Links for Nucleotide (Select 91982757) - SNP

Links from Nucleotide

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Select item 14901296161.

rs1490129616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:98599663 (GRCh38)
12:98993441 (GRCh37)
Canonical SPDI:: NC_000012.12:98599662:G:A,NC_000012.12:98599662:G:C
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.98599663G>A, NC_000012.12:g.98599663G>C, NC_000012.11:g.98993441G>A, NC_000012.11:g.98993441G>C, NG_011702.1:g.11039G>A, NG_011702.1:g.11039G>C, NR_003015.1:n.29G>A, NR_003015.1:n.29G>C

Select item 14896233022.

rs1489623302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:98599725 (GRCh38)
12:98993503 (GRCh37)
Canonical SPDI:: NC_000012.12:98599724:G:T
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: 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=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.98599725G>T, NC_000012.11:g.98993503G>T, NG_011702.1:g.11101G>T, NR_003015.1:n.91G>T

Select item 14659055803.

rs1465905580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:98599845 (GRCh38)
12:98993623 (GRCh37)
Canonical SPDI:: NC_000012.12:98599844:C:T
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98599845C>T, NC_000012.11:g.98993623C>T, NG_011702.1:g.11221C>T, NR_003015.1:n.211C>T

Select item 14607202774.

rs1460720277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:98599830 (GRCh38)
12:98993608 (GRCh37)
Canonical SPDI:: NC_000012.12:98599829:A:G
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98599830A>G, NC_000012.11:g.98993608A>G, NG_011702.1:g.11206A>G, NR_003015.1:n.196A>G

Select item 14541334265.

rs1454133426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:98599850 (GRCh38)
12:98993628 (GRCh37)
Canonical SPDI:: NC_000012.12:98599849:G:A
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000087/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.98599850G>A, NC_000012.11:g.98993628G>A, NG_011702.1:g.11226G>A, NR_003015.1:n.216G>A

Select item 14376478946.

rs1437647894 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:98599741 (GRCh38)
12:98993519 (GRCh37)
Canonical SPDI:: NC_000012.12:98599740:T:G
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98599741T>G, NC_000012.11:g.98993519T>G, NG_011702.1:g.11117T>G, NR_003015.1:n.107T>G

Select item 14111582397.

rs1411158239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:98599764 (GRCh38)
12:98993542 (GRCh37)
Canonical SPDI:: NC_000012.12:98599763:G:A
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,non_coding_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_000012.12:g.98599764G>A, NC_000012.11:g.98993542G>A, NG_011702.1:g.11140G>A, NR_003015.1:n.130G>A

Select item 14078860978.

rs1407886097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:98599772 (GRCh38)
12:98993550 (GRCh37)
Canonical SPDI:: NC_000012.12:98599771:C:T
Gene:: SLC25A3 (Varview), SNORA53 (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)
HGVS:: NC_000012.12:g.98599772C>T, NC_000012.11:g.98993550C>T, NG_011702.1:g.11148C>T, NR_003015.1:n.138C>T

Select item 14065181949.

rs1406518194 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:98599793 (GRCh38)
12:98993571 (GRCh37)
Canonical SPDI:: NC_000012.12:98599789:ATATA:ATA
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.98599791TA[1], NC_000012.11:g.98993569TA[1], NG_011702.1:g.11167TA[1], NR_003015.1:n.157TA[1]

Select item 139595450210.

rs1395954502 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGTCATTG [Show Flanks]
Chromosome:: 12:98599765 (GRCh38)
12:98993544 (GRCh37)
Canonical SPDI:: NC_000012.12:98599765:TTGAGTCATTG:TTGAGTCATTGAGTCATTG
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: TTGAGTCA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98599769_98599776dup, NC_000012.11:g.98993547_98993554dup, NG_011702.1:g.11145_11152dup, NR_003015.1:n.135_142dup

Select item 138352122611.

rs1383521226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:98599758 (GRCh38)
12:98993536 (GRCh37)
Canonical SPDI:: NC_000012.12:98599757:A:G
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98599758A>G, NC_000012.11:g.98993536A>G, NG_011702.1:g.11134A>G, NR_003015.1:n.124A>G

Select item 138128293012.

rs1381282930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:98599851 (GRCh38)
12:98993629 (GRCh37)
Canonical SPDI:: NC_000012.12:98599850:T:G
Gene:: SLC25A3 (Varview), SNORA53 (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)
HGVS:: NC_000012.12:g.98599851T>G, NC_000012.11:g.98993629T>G, NG_011702.1:g.11227T>G, NR_003015.1:n.217T>G

Select item 136378310613.

rs1363783106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:98599684 (GRCh38)
12:98993462 (GRCh37)
Canonical SPDI:: NC_000012.12:98599683:C:G
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98599684C>G, NC_000012.11:g.98993462C>G, NG_011702.1:g.11060C>G, NR_003015.1:n.50C>G

Select item 136076199114.

rs1360761991 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:98599784 (GRCh38)
12:98993562 (GRCh37)
Canonical SPDI:: NC_000012.12:98599783:A:G
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000012.12:g.98599784A>G, NC_000012.11:g.98993562A>G, NG_011702.1:g.11160A>G, NR_003015.1:n.150A>G

Select item 133149041215.

rs1331490412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:98599697 (GRCh38)
12:98993475 (GRCh37)
Canonical SPDI:: NC_000012.12:98599696:C:A
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98599697C>A, NC_000012.11:g.98993475C>A, NG_011702.1:g.11073C>A, NR_003015.1:n.63C>A

Select item 132322696116.

rs1323226961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:98599831 (GRCh38)
12:98993609 (GRCh37)
Canonical SPDI:: NC_000012.12:98599830:T:G
Gene:: SLC25A3 (Varview), SNORA53 (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)
HGVS:: NC_000012.12:g.98599831T>G, NC_000012.11:g.98993609T>G, NG_011702.1:g.11207T>G, NR_003015.1:n.197T>G

Select item 131427065317.

rs1314270653 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:98599787 (GRCh38)
12:98993565 (GRCh37)
Canonical SPDI:: NC_000012.12:98599783:AGAGA:AGA
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98599785GA[1], NC_000012.11:g.98993563GA[1], NG_011702.1:g.11161GA[1], NR_003015.1:n.151GA[1]

Select item 131289216818.

rs1312892168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:98599858 (GRCh38)
12:98993636 (GRCh37)
Canonical SPDI:: NC_000012.12:98599857:C:G
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.98599858C>G, NC_000012.11:g.98993636C>G, NG_011702.1:g.11234C>G, NR_003015.1:n.224C>G

Select item 129049284519.

rs1290492845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:98599722 (GRCh38)
12:98993500 (GRCh37)
Canonical SPDI:: NC_000012.12:98599721:A:C,NC_000012.12:98599721:A:G
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.00463/1 (Vietnamese)
HGVS:: NC_000012.12:g.98599722A>C, NC_000012.12:g.98599722A>G, NC_000012.11:g.98993500A>C, NC_000012.11:g.98993500A>G, NG_011702.1:g.11098A>C, NG_011702.1:g.11098A>G, NR_003015.1:n.88A>C, NR_003015.1:n.88A>G

Select item 127851509120.

rs1278515091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:98599866 (GRCh38)
12:98993644 (GRCh37)
Canonical SPDI:: NC_000012.12:98599865:G:A
Gene:: SLC25A3 (Varview), SNORA53 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.98599866G>A, NC_000012.11:g.98993644G>A, NG_011702.1:g.11242G>A, NR_003015.1:n.232G>A

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