SNP Links for Nucleotide (Select 262205139) - SNP

Links from Nucleotide

Items: 1 to 20 of 23

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Select item 14830555951.

rs1483055595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:101055423 (GRCh38)
14:101521760 (GRCh37)
Canonical SPDI:: NC_000014.9:101055422:G:C
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.101055423G>C, NC_000014.8:g.101521760G>C, NR_030160.1:n.5G>C

Select item 14342057892.

rs1434205789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:101055419 (GRCh38)
14:101521756 (GRCh37)
Canonical SPDI:: NC_000014.9:101055418:A:G
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_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_000014.9:g.101055419A>G, NC_000014.8:g.101521756A>G, NR_030160.1:n.1A>G

Select item 14088335743.

rs1408833574 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:101055459 (GRCh38)
14:101521796 (GRCh37)
Canonical SPDI:: NC_000014.9:101055458:A:C
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101055459A>C, NC_000014.8:g.101521796A>C, NR_030160.1:n.41A>C

Select item 13936039654.

rs1393603965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:101055480 (GRCh38)
14:101521817 (GRCh37)
Canonical SPDI:: NC_000014.9:101055479:C:T
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101055480C>T, NC_000014.8:g.101521817C>T, NR_030160.1:n.62C>T

Select item 13759606595.

rs1375960659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101055449 (GRCh38)
14:101521786 (GRCh37)
Canonical SPDI:: NC_000014.9:101055448:G:A
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.101055449G>A, NC_000014.8:g.101521786G>A, NR_030160.1:n.31G>A

Select item 13465691116.

rs1346569111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:101055471 (GRCh38)
14:101521808 (GRCh37)
Canonical SPDI:: NC_000014.9:101055470:A:G
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.101055471A>G, NC_000014.8:g.101521808A>G, NR_030160.1:n.53A>G

Select item 12776267207.

rs1277626720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:101055477 (GRCh38)
14:101521814 (GRCh37)
Canonical SPDI:: NC_000014.9:101055476:C:T
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,downstream_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_000014.9:g.101055477C>T, NC_000014.8:g.101521814C>T, NR_030160.1:n.59C>T

Select item 12435420138.

rs1243542013 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 14:101055420 (GRCh38)
14:101521757 (GRCh37)
Canonical SPDI:: NC_000014.9:101055419:C:
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101055420del, NC_000014.8:g.101521757del, NR_030160.1:n.2del

Select item 12051972579.

rs1205197257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101055462 (GRCh38)
14:101521799 (GRCh37)
Canonical SPDI:: NC_000014.9:101055461:G:A
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.101055462G>A, NC_000014.8:g.101521799G>A, NR_030160.1:n.44G>A

Select item 117676828410.

rs1176768284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:101055436 (GRCh38)
14:101521773 (GRCh37)
Canonical SPDI:: NC_000014.9:101055435:C:G,NC_000014.9:101055435:C:T
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000177/3 (TOMMO)
G=0.002729/5 (Korea1K)
HGVS:: NC_000014.9:g.101055436C>G, NC_000014.9:g.101055436C>T, NC_000014.8:g.101521773C>G, NC_000014.8:g.101521773C>T, NR_030160.1:n.18C>G, NR_030160.1:n.18C>T

Select item 116856431611.

rs1168564316 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:101055484 (GRCh38)
14:101521821 (GRCh37)
Canonical SPDI:: NC_000014.9:101055479:CTCTCT:CTCT
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.101055480CT[2], NC_000014.8:g.101521817CT[2], NR_030160.1:n.62CT[2]

Select item 78091793112.

rs780917931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:101055485 (GRCh38)
14:101521822 (GRCh37)
Canonical SPDI:: NC_000014.9:101055484:T:C
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000008/1 (ExAC)
HGVS:: NC_000014.9:g.101055485T>C, NC_000014.8:g.101521822T>C, NR_030160.1:n.67T>C

Select item 76900454613.

rs769004546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:101055473 (GRCh38)
14:101521810 (GRCh37)
Canonical SPDI:: NC_000014.9:101055472:G:A,NC_000014.9:101055472:G:C
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (TWINSUK)
A=0.000008/2 (TOPMED)
A=0.000033/4 (ExAC)
A=0.000259/1 (ALSPAC)
HGVS:: NC_000014.9:g.101055473G>A, NC_000014.9:g.101055473G>C, NC_000014.8:g.101521810G>A, NC_000014.8:g.101521810G>C, NR_030160.1:n.55G>A, NR_030160.1:n.55G>C

Select item 76673711014.

rs766737110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101055426 (GRCh38)
14:101521763 (GRCh37)
Canonical SPDI:: NC_000014.9:101055425:G:A
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000017/2 (ExAC)
A=0.000028/7 (GnomAD_exomes)
HGVS:: NC_000014.9:g.101055426G>A, NC_000014.8:g.101521763G>A, NR_030160.1:n.8G>A

Select item 76567807815.

rs765678078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:101055448 (GRCh38)
14:101521785 (GRCh37)
Canonical SPDI:: NC_000014.9:101055447:C:T
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (ExAC)
T=0.000029/4 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000049/13 (TOPMED)
HGVS:: NC_000014.9:g.101055448C>T, NC_000014.8:g.101521785C>T, NR_030160.1:n.30C>T

Select item 75991979516.

rs759919795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:101055438 (GRCh38)
14:101521775 (GRCh37)
Canonical SPDI:: NC_000014.9:101055437:G:A
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000017/2 (ExAC)
A=0.000043/6 (GnomAD)
A=0.000079/21 (TOPMED)
HGVS:: NC_000014.9:g.101055438G>A, NC_000014.8:g.101521775G>A, NR_030160.1:n.20G>A

Select item 75788666717.

rs757886667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:101055453 (GRCh38)
14:101521790 (GRCh37)
Canonical SPDI:: NC_000014.9:101055452:C:G
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000069/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000017/2 (ExAC)
HGVS:: NC_000014.9:g.101055453C>G, NC_000014.8:g.101521790C>G, NR_030160.1:n.35C>G

Select item 75321186918.

rs753211869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:101055452 (GRCh38)
14:101521789 (GRCh37)
Canonical SPDI:: NC_000014.9:101055451:T:G
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000008/1 (ExAC)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.101055452T>G, NC_000014.8:g.101521789T>G, NR_030160.1:n.34T>G

Select item 75118995019.

rs751189950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:101055472 (GRCh38)
14:101521809 (GRCh37)
Canonical SPDI:: NC_000014.9:101055471:C:T
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000033/4 (ExAC)
T=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.101055472C>T, NC_000014.8:g.101521809C>T, NR_030160.1:n.54C>T

Select item 74559004320.

rs745590043 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:101055488 (GRCh38)
14:101521825 (GRCh37)
Canonical SPDI:: NC_000014.9:101055487:T:C
Gene:: MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/2 (GnomAD_exomes)
C=0.000017/2 (ExAC)
C=0.000106/2 (TOMMO)
C=0.000684/2 (KOREAN)
HGVS:: NC_000014.9:g.101055488T>C, NC_000014.8:g.101521825T>C, NR_030160.1:n.70T>C

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Links from Nucleotide

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