SNP Links for Nucleotide (Select 223671923) - SNP

Links from Nucleotide

Items: 1 to 20 of 3566

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Select item 14905804911.

rs1490580491 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAATAGA>- [Show Flanks]
Chromosome:: 8:119418861 (GRCh38)
8:120431101 (GRCh37)
Canonical SPDI:: NC_000008.11:119418857:AGACAATAGA:AGA
Gene:: CCN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.119418861_119418867del, NC_000008.10:g.120431101_120431107del, NG_009779.1:g.7550_7556del

Select item 14905206952.

rs1490520695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:119419621 (GRCh38)
8:120431861 (GRCh37)
Canonical SPDI:: NC_000008.11:119419620:G:T
Gene:: CCN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.119419621G>T, NC_000008.10:g.120431861G>T, NG_009779.1:g.8310G>T

Select item 14904760263.

rs1490476026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:119411853 (GRCh38)
8:120424093 (GRCh37)
Canonical SPDI:: NC_000008.11:119411852:G:A,NC_000008.11:119411852:G:C
Gene:: LOC124902009 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.119411853G>A, NC_000008.11:g.119411853G>C, NC_000008.10:g.120424093G>A, NC_000008.10:g.120424093G>C, NG_009779.1:g.542G>A, NG_009779.1:g.542G>C

Select item 14904511444.

rs1490451144 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:119412685 (GRCh38)
8:120424925 (GRCh37)
Canonical SPDI:: NC_000008.11:119412684:A:G
Gene:: LOC124902009 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.119412685A>G, NC_000008.10:g.120424925A>G, NG_009779.1:g.1374A>G

Select item 14903330215.

rs1490333021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:119412089 (GRCh38)
8:120424329 (GRCh37)
Canonical SPDI:: NC_000008.11:119412088:T:C
Gene:: LOC124902009 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000008.11:g.119412089T>C, NC_000008.10:g.120424329T>C, NG_009779.1:g.778T>C

Select item 14901879926.

rs1490187992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:119418545 (GRCh38)
8:120430785 (GRCh37)
Canonical SPDI:: NC_000008.11:119418544:A:G
Gene:: CCN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000057/15 (TOPMED)
HGVS:: NC_000008.11:g.119418545A>G, NC_000008.10:g.120430785A>G, NG_009779.1:g.7234A>G

Select item 14901219457.

rs1490121945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:119425397 (GRCh38)
8:120437637 (GRCh37)
Canonical SPDI:: NC_000008.11:119425396:G:A,NC_000008.11:119425396:G:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.119425397G>A, NC_000008.11:g.119425397G>C, NC_000008.10:g.120437637G>A, NC_000008.10:g.120437637G>C, NG_009779.1:g.14086G>A, NG_009779.1:g.14086G>C

Select item 14898409218.

rs1489840921 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:119412961 (GRCh38)
8:120425201 (GRCh37)
Canonical SPDI:: NC_000008.11:119412960:T:A
Gene:: LOC124902009 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000009/1 (GnomAD)
HGVS:: NC_000008.11:g.119412961T>A, NC_000008.10:g.120425201T>A, NG_009779.1:g.1650T>A

Select item 14897831699.

rs1489783169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:119414958 (GRCh38)
8:120427198 (GRCh37)
Canonical SPDI:: NC_000008.11:119414957:C:G
Gene:: CCN3 (Varview), LOC124902009 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.119414958C>G, NC_000008.10:g.120427198C>G, NG_009779.1:g.3647C>G

Select item 148949399410.

rs1489493994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:119424422 (GRCh38)
8:120436662 (GRCh37)
Canonical SPDI:: NC_000008.11:119424421:T:A
Gene:: CCN3 (Varview)
Functional Consequence:: 3_prime_UTR_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_000008.11:g.119424422T>A, NC_000008.10:g.120436662T>A, NG_009779.1:g.13111T>A, NM_002514.4:c.*1290T>A, NM_002514.3:c.*1290T>A

Select item 148947283111.

rs1489472831 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148942062212.

rs1489420622 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GTT
Chromosome:: no mapping
Canonical SPDI:

Select item 148935875813.

rs1489358758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:119415853 (GRCh38)
8:120428093 (GRCh37)
Canonical SPDI:: NC_000008.11:119415852:C:T
Gene:: CCN3 (Varview), LOC124902009 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.119415853C>T, NC_000008.10:g.120428093C>T, NG_009779.1:g.4542C>T, XR_007061077.1:n.457G>A

Select item 148914554414.

rs1489145544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:119411850 (GRCh38)
8:120424090 (GRCh37)
Canonical SPDI:: NC_000008.11:119411849:C:G,NC_000008.11:119411849:C:T
Gene:: LOC124902009 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.119411850C>G, NC_000008.11:g.119411850C>T, NC_000008.10:g.120424090C>G, NC_000008.10:g.120424090C>T, NG_009779.1:g.539C>G, NG_009779.1:g.539C>T

Select item 148914325415.

rs1489143254 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATA [Show Flanks]
Chromosome:: 8:119413494 (GRCh38)
8:120425735 (GRCh37)
Canonical SPDI:: NC_000008.11:119413494:ATA:ATAATA
Gene:: LOC124902009 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAATA=0./0 (ALFA)
ATA=0.000004/1 (TOPMED)
ATA=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.119413495_119413497dup, NC_000008.10:g.120425735_120425737dup, NG_009779.1:g.2184_2186dup

Select item 148886520216.

rs1488865202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:119412991 (GRCh38)
8:120425231 (GRCh37)
Canonical SPDI:: NC_000008.11:119412990:T:A
Gene:: LOC124902009 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00124/35 (TOMMO)
A=0.02502/73 (KOREAN)
HGVS:: NC_000008.11:g.119412991T>A, NC_000008.10:g.120425231T>A, NG_009779.1:g.1680T>A

Select item 148844034517.

rs1488440345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:119421818 (GRCh38)
8:120434058 (GRCh37)
Canonical SPDI:: NC_000008.11:119421817:C:T
Gene:: CCN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.119421818C>T, NC_000008.10:g.120434058C>T, NG_009779.1:g.10507C>T

Select item 148801526718.

rs1488015267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:119412000 (GRCh38)
8:120424240 (GRCh37)
Canonical SPDI:: NC_000008.11:119411999:G:T
Gene:: LOC124902009 (Varview)
Functional Consequence:: 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_000008.11:g.119412000G>T, NC_000008.10:g.120424240G>T, NG_009779.1:g.689G>T

Select item 148792494319.

rs1487924943 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:119420717 (GRCh38)
8:120432957 (GRCh37)
Canonical SPDI:: NC_000008.11:119420716:A:G
Gene:: CCN3 (Varview)
Functional Consequence:: 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_000008.11:g.119420717A>G, NC_000008.10:g.120432957A>G, NG_009779.1:g.9406A>G

Select item 148782255520.

rs1487822555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:119417386 (GRCh38)
8:120429626 (GRCh37)
Canonical SPDI:: NC_000008.11:119417385:C:T
Gene:: CCN3 (Varview), LOC124902009 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.119417386C>T, NC_000008.10:g.120429626C>T, NG_009779.1:g.6075C>T

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