SNP Links for Nucleotide (Select 95006992) - SNP

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Links from Nucleotide

Items: 1 to 20 of 34

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Select item 13946272801.

rs1394627280 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:21392186 (GRCh38)
14:21860345 (GRCh37)
Canonical SPDI:: NC_000014.9:21392185:A:G
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21392186A>G, NC_000014.8:g.21860345A>G, NG_021249.1:g.50113T>C, NR_003029.2:n.68T>C

Select item 13921127352.

rs1392112735 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 14:21392173 (GRCh38)
14:21860332 (GRCh37)
Canonical SPDI:: NC_000014.9:21392170:AGAG:AG
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21392171AG[1], NC_000014.8:g.21860330AG[1], NG_021249.1:g.50125CT[1], NR_003029.2:n.80CT[1]

Select item 13733863733.

rs1373386373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21392190 (GRCh38)
14:21860349 (GRCh37)
Canonical SPDI:: NC_000014.9:21392189:C:T
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.21392190C>T, NC_000014.8:g.21860349C>T, NG_021249.1:g.50109G>A, NR_003029.2:n.64G>A

Select item 13569198354.

rs1356919835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21392250 (GRCh38)
14:21860409 (GRCh37)
Canonical SPDI:: NC_000014.9:21392249:G:A
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.21392250G>A, NC_000014.8:g.21860409G>A, NG_021249.1:g.50049C>T, NR_003029.2:n.4C>T

Select item 13083835275.

rs1308383527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21392153 (GRCh38)
14:21860312 (GRCh37)
Canonical SPDI:: NC_000014.9:21392152:C:T
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.21392153C>T, NC_000014.8:g.21860312C>T, NG_021249.1:g.50146G>A, NR_003029.2:n.101G>A

Select item 12874720236.

rs1287472023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:21392214 (GRCh38)
14:21860373 (GRCh37)
Canonical SPDI:: NC_000014.9:21392213:C:A
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21392214C>A, NC_000014.8:g.21860373C>A, NG_021249.1:g.50085G>T, NR_003029.2:n.40G>T

Select item 12554283357.

rs1255428335 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21392230 (GRCh38)
14:21860389 (GRCh37)
Canonical SPDI:: NC_000014.9:21392229:T:C
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21392230T>C, NC_000014.8:g.21860389T>C, NG_021249.1:g.50069A>G, NR_003029.2:n.24A>G

Select item 11604929608.

rs1160492960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:21392151 (GRCh38)
14:21860310 (GRCh37)
Canonical SPDI:: NC_000014.9:21392150:C:G,NC_000014.9:21392150:C:T
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.21392151C>G, NC_000014.9:g.21392151C>T, NC_000014.8:g.21860310C>G, NC_000014.8:g.21860310C>T, NG_021249.1:g.50148G>C, NG_021249.1:g.50148G>A, NR_003029.2:n.103G>C, NR_003029.2:n.103G>A

Select item 10217552859.

rs1021755285 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 14:21392167 (GRCh38)
14:21860326 (GRCh37)
Canonical SPDI:: NC_000014.9:21392166:A:C,NC_000014.9:21392166:A:G
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.21392167A>C, NC_000014.9:g.21392167A>G, NC_000014.8:g.21860326A>C, NC_000014.8:g.21860326A>G, NG_021249.1:g.50132T>G, NG_021249.1:g.50132T>C, NR_003029.2:n.87T>G, NR_003029.2:n.87T>C

Select item 98959700210.

rs989597002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:21392184 (GRCh38)
14:21860343 (GRCh37)
Canonical SPDI:: NC_000014.9:21392183:A:G
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.21392184A>G, NC_000014.8:g.21860343A>G, NG_021249.1:g.50115T>C, NR_003029.2:n.70T>C

Select item 95485784311.

rs954857843 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:21392245 (GRCh38)
14:21860404 (GRCh37)
Canonical SPDI:: NC_000014.9:21392244:T:A
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.21392245T>A, NC_000014.8:g.21860404T>A, NG_021249.1:g.50054A>T, NR_003029.2:n.9A>T

Select item 92819695112.

rs928196951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21392252 (GRCh38)
14:21860411 (GRCh37)
Canonical SPDI:: NC_000014.9:21392251:G:A
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.21392252G>A, NC_000014.8:g.21860411G>A, NG_021249.1:g.50047C>T, NR_003029.2:n.2C>T

Select item 91401040213.

rs914010402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:21392189 (GRCh38)
14:21860348 (GRCh37)
Canonical SPDI:: NC_000014.9:21392188:A:G
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.21392189A>G, NC_000014.8:g.21860348A>G, NG_021249.1:g.50110T>C, NR_003029.2:n.65T>C

Select item 78139421614.

rs781394216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:21392199 (GRCh38)
14:21860358 (GRCh37)
Canonical SPDI:: NC_000014.9:21392198:G:A,NC_000014.9:21392198:G:C
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
C=0.000009/1 (ExAC)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21392199G>A, NC_000014.9:g.21392199G>C, NC_000014.8:g.21860358G>A, NC_000014.8:g.21860358G>C, NG_021249.1:g.50100C>T, NG_021249.1:g.50100C>G, NR_003029.2:n.55C>T, NR_003029.2:n.55C>G

Select item 77927281315.

rs779272813 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 14:21392243 (GRCh38)
14:21860402 (GRCh37)
Canonical SPDI:: NC_000014.9:21392242:C:
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000043/1 (ALFA)
-=0.000009/1 (ExAC)
-=0.000009/2 (GnomAD_exomes)
-=0.000019/5 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000014.9:g.21392243del, NC_000014.8:g.21860402del, NG_021249.1:g.50056del, NR_003029.2:n.11del

Select item 77658218716.

rs776582187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21392226 (GRCh38)
14:21860385 (GRCh37)
Canonical SPDI:: NC_000014.9:21392225:G:A
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0./0 (ALSPAC)
A=0.000015/4 (TOPMED)
A=0.000017/4 (GnomAD_exomes)
A=0.000018/2 (ExAC)
A=0.000029/4 (GnomAD)
A=0.00027/1 (TWINSUK)
A=0.001873/1 (MGP)
HGVS:: NC_000014.9:g.21392226G>A, NC_000014.8:g.21860385G>A, NG_021249.1:g.50073C>T, NR_003029.2:n.28C>T

Select item 77643740717.

rs776437407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:21392237 (GRCh38)
14:21860396 (GRCh37)
Canonical SPDI:: NC_000014.9:21392236:G:A
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000009/1 (ExAC)
HGVS:: NC_000014.9:g.21392237G>A, NC_000014.8:g.21860396G>A, NG_021249.1:g.50062C>T, NR_003029.2:n.17C>T

Select item 77312606618.

rs773126066 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:21392221 (GRCh38)
14:21860380 (GRCh37)
Canonical SPDI:: NC_000014.9:21392220:T:C
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000009/1 (ExAC)
C=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.21392221T>C, NC_000014.8:g.21860380T>C, NG_021249.1:g.50078A>G, NR_003029.2:n.33A>G

Select item 77147874719.

rs771478747 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 14:21392203 (GRCh38)
14:21860362 (GRCh37)
Canonical SPDI:: NC_000014.9:21392202:AAAA:AAA
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000013/3 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000027/3 (ExAC)
HGVS:: NC_000014.9:g.21392206del, NC_000014.8:g.21860365del, NG_021249.1:g.50096del, NR_003029.2:n.51del

Select item 77131876120.

rs771318761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:21392225 (GRCh38)
14:21860384 (GRCh37)
Canonical SPDI:: NC_000014.9:21392224:C:T
Gene:: CHD8 (Varview), SNORD9 (Varview), LOC107984643 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000018/2 (ExAC)
HGVS:: NC_000014.9:g.21392225C>T, NC_000014.8:g.21860384C>T, NG_021249.1:g.50074G>A, NR_003029.2:n.29G>A

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