SNP Links for Nucleotide (Select 126032332) - SNP

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Links from Nucleotide

Items: 1 to 20 of 38

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Select item 14780994591.

rs1478099459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25106527 (GRCh38)
15:25351674 (GRCh37)
Canonical SPDI:: NC_000015.10:25106526:A:G
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.25106527A>G, NC_000015.9:g.25351674A>G, NG_002690.1:g.325618A>G, NR_003360.1:n.8A>G

Select item 14141742542.

rs1414174254 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:25106576 (GRCh38)
15:25351724 (GRCh37)
Canonical SPDI:: NC_000015.10:25106576:CC:CCC
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25106578dup, NC_000015.9:g.25351725dup, NG_002690.1:g.325669dup, NR_003360.1:n.59dup

Select item 14006990153.

rs1400699015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25106560 (GRCh38)
15:25351707 (GRCh37)
Canonical SPDI:: NC_000015.10:25106559:C:T
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25106560C>T, NC_000015.9:g.25351707C>T, NG_002690.1:g.325651C>T, NR_003360.1:n.41C>T

Select item 13916853734.

rs1391685373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25106551 (GRCh38)
15:25351698 (GRCh37)
Canonical SPDI:: NC_000015.10:25106550:C:T
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25106551C>T, NC_000015.9:g.25351698C>T, NG_002690.1:g.325642C>T, NR_003360.1:n.32C>T

Select item 13910239965.

rs1391023996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25106533 (GRCh38)
15:25351680 (GRCh37)
Canonical SPDI:: NC_000015.10:25106532:A:G
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000015.10:g.25106533A>G, NC_000015.9:g.25351680A>G, NG_002690.1:g.325624A>G, NR_003360.1:n.14A>G

Select item 13700372866.

rs1370037286 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 15:25106596 (GRCh38)
15:25351744 (GRCh37)
Canonical SPDI:: NC_000015.10:25106596:GAG:GAGAG
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
GA=0.000004/1 (GnomAD_exomes)
GA=0.000008/2 (TOPMED)
GA=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.25106598_25106599dup, NC_000015.9:g.25351745_25351746dup, NG_002690.1:g.325689_325690dup, NR_003360.1:n.79_80dup

Select item 13611449167.

rs1361144916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25106572 (GRCh38)
15:25351719 (GRCh37)
Canonical SPDI:: NC_000015.10:25106571:A:G
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25106572A>G, NC_000015.9:g.25351719A>G, NG_002690.1:g.325663A>G, NR_003360.1:n.53A>G

Select item 13599215758.

rs1359921575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:25106558 (GRCh38)
15:25351705 (GRCh37)
Canonical SPDI:: NC_000015.10:25106557:A:T
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25106558A>T, NC_000015.9:g.25351705A>T, NG_002690.1:g.325649A>T, NR_003360.1:n.39A>T

Select item 13595276419.

rs1359527641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:25106596 (GRCh38)
15:25351743 (GRCh37)
Canonical SPDI:: NC_000015.10:25106595:T:G
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.25106596T>G, NC_000015.9:g.25351743T>G, NG_002690.1:g.325687T>G, NR_003360.1:n.77T>G

Select item 133924706610.

rs1339247066 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25106564 (GRCh38)
15:25351711 (GRCh37)
Canonical SPDI:: NC_000015.10:25106563:A:G
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25106564A>G, NC_000015.9:g.25351711A>G, NG_002690.1:g.325655A>G, NR_003360.1:n.45A>G

Select item 133502985611.

rs1335029856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25106592 (GRCh38)
15:25351739 (GRCh37)
Canonical SPDI:: NC_000015.10:25106591:G:A
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25106592G>A, NC_000015.9:g.25351739G>A, NG_002690.1:g.325683G>A, NR_003360.1:n.73G>A

Select item 129640970612.

rs1296409706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25106554 (GRCh38)
15:25351701 (GRCh37)
Canonical SPDI:: NC_000015.10:25106553:G:A
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25106554G>A, NC_000015.9:g.25351701G>A, NG_002690.1:g.325645G>A, NR_003360.1:n.35G>A

Select item 123758301713.

rs1237583017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:25106577 (GRCh38)
15:25351724 (GRCh37)
Canonical SPDI:: NC_000015.10:25106576:C:G
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25106577C>G, NC_000015.9:g.25351724C>G, NG_002690.1:g.325668C>G, NR_003360.1:n.58C>G

Select item 121140017514.

rs1211400175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:25106568 (GRCh38)
15:25351715 (GRCh37)
Canonical SPDI:: NC_000015.10:25106567:A:C
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.25106568A>C, NC_000015.9:g.25351715A>C, NG_002690.1:g.325659A>C, NR_003360.1:n.49A>C

Select item 119568092515.

rs1195680925 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25106528 (GRCh38)
15:25351675 (GRCh37)
Canonical SPDI:: NC_000015.10:25106527:T:C
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.25106528T>C, NC_000015.9:g.25351675T>C, NG_002690.1:g.325619T>C, NR_003360.1:n.9T>C

Select item 118799586416.

rs1187995864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:25106595 (GRCh38)
15:25351742 (GRCh37)
Canonical SPDI:: NC_000015.10:25106594:C:A,NC_000015.10:25106594:C:G
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25106595C>A, NC_000015.10:g.25106595C>G, NC_000015.9:g.25351742C>A, NC_000015.9:g.25351742C>G, NG_002690.1:g.325686C>A, NG_002690.1:g.325686C>G, NR_003360.1:n.76C>A, NR_003360.1:n.76C>G

Select item 116367739317.

rs1163677393 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25106547 (GRCh38)
15:25351694 (GRCh37)
Canonical SPDI:: NC_000015.10:25106546:A:G
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.25106547A>G, NC_000015.9:g.25351694A>G, NG_002690.1:g.325638A>G, NR_003360.1:n.28A>G

Select item 115701636018.

rs1157016360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25106598 (GRCh38)
15:25351745 (GRCh37)
Canonical SPDI:: NC_000015.10:25106597:A:G
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.00053/9 (TOMMO)
HGVS:: NC_000015.10:g.25106598A>G, NC_000015.9:g.25351745A>G, NG_002690.1:g.325689A>G, NR_003360.1:n.79A>G

Select item 97437788719.

rs974377887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25106525 (GRCh38)
15:25351672 (GRCh37)
Canonical SPDI:: NC_000015.10:25106524:C:T
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000017/4 (GnomAD_exomes)
T=0.00003/8 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000015.10:g.25106525C>T, NC_000015.9:g.25351672C>T, NG_002690.1:g.325616C>T, NR_003360.1:n.6C>T

Select item 92651692920.

rs926516929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 15:25106531 (GRCh38)
15:25351678 (GRCh37)
Canonical SPDI:: NC_000015.10:25106530:T:A,NC_000015.10:25106530:T:G
Gene:: SNORD116-29 (Varview), SNORD116-30 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25106531T>A, NC_000015.10:g.25106531T>G, NC_000015.9:g.25351678T>A, NC_000015.9:g.25351678T>G, NG_002690.1:g.325622T>A, NG_002690.1:g.325622T>G, NR_003360.1:n.12T>A, NR_003360.1:n.12T>G