SNP Links for Nucleotide (Select 84872026) - SNP

Links from Nucleotide

Items: 1 to 20 of 35

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Select item 14864698871.

rs1486469887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:173864406 (GRCh38)
1:173833544 (GRCh37)
Canonical SPDI:: NC_000001.11:173864405:T:A
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173864406T>A, NC_000001.10:g.173833544T>A, NR_002746.1:n.40A>T

Select item 14701917632.

rs1470191763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:173864429 (GRCh38)
1:173833567 (GRCh37)
Canonical SPDI:: NC_000001.11:173864428:T:C,NC_000001.11:173864428:T:G
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.173864429T>C, NC_000001.11:g.173864429T>G, NC_000001.10:g.173833567T>C, NC_000001.10:g.173833567T>G, NR_002746.1:n.17A>G, NR_002746.1:n.17A>C

Select item 14137885153.

rs1413788515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173864440 (GRCh38)
1:173833578 (GRCh37)
Canonical SPDI:: NC_000001.11:173864439:T:C
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (KOREAN)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173864440T>C, NC_000001.10:g.173833578T>C, NR_002746.1:n.6A>G

Select item 13572818854.

rs1357281885 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:173864376 (GRCh38)
1:173833514 (GRCh37)
Canonical SPDI:: NC_000001.11:173864374:AGA:A
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000047/11 (GnomAD_exomes)
-=0.000057/15 (TOPMED)
-=0.000086/12 (GnomAD)
HGVS:: NC_000001.11:g.173864376_173864377del, NC_000001.10:g.173833514_173833515del, NR_002746.1:n.70_71del

Select item 12936170435.

rs1293617043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:173864378 (GRCh38)
1:173833516 (GRCh37)
Canonical SPDI:: NC_000001.11:173864377:A:T
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173864378A>T, NC_000001.10:g.173833516A>T, NR_002746.1:n.68T>A

Select item 12877814236.

rs1287781423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173864399 (GRCh38)
1:173833537 (GRCh37)
Canonical SPDI:: NC_000001.11:173864398:A:G
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.173864399A>G, NC_000001.10:g.173833537A>G, NR_002746.1:n.47T>C

Select item 12869663737.

rs1286966373 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:173864398 (GRCh38)
1:173833536 (GRCh37)
Canonical SPDI:: NC_000001.11:173864396:ACA:A
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173864398_173864399del, NC_000001.10:g.173833536_173833537del, NR_002746.1:n.48_49del

Select item 12694198258.

rs1269419825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:173864398 (GRCh38)
1:173833536 (GRCh37)
Canonical SPDI:: NC_000001.11:173864397:C:G
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.173864398C>G, NC_000001.10:g.173833536C>G, NR_002746.1:n.48G>C

Select item 12353364919.

rs1235336491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173864386 (GRCh38)
1:173833524 (GRCh37)
Canonical SPDI:: NC_000001.11:173864385:G:A
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173864386G>A, NC_000001.10:g.173833524G>A, NR_002746.1:n.60C>T

Select item 120988900110.

rs1209889001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:173864402 (GRCh38)
1:173833540 (GRCh37)
Canonical SPDI:: NC_000001.11:173864401:G:C
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000334/3 (ALFA)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173864402G>C, NC_000001.10:g.173833540G>C, NR_002746.1:n.44C>G

Select item 116925174411.

rs1169251744 has merged into rs747862300 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 1:173864427 (GRCh38)
1:173833565 (GRCh37)
Canonical SPDI:: NC_000001.11:173864426:AA:A,NC_000001.11:173864426:AA:AAA
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000045/5 (ExAC)
HGVS:: NC_000001.11:g.173864428del, NC_000001.11:g.173864428dup, NC_000001.10:g.173833566del, NC_000001.10:g.173833566dup, NR_002746.1:n.19del, NR_002746.1:n.19dup

Select item 115972880612.

rs1159728806 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 1:173864433 (GRCh38)
1:173833572 (GRCh37)
Canonical SPDI:: NC_000001.11:173864433:ACA:ACACA
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
AC=0.000011/3 (TOPMED)
AC=0.000014/2 (GnomAD)
AC=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173864435_173864436dup, NC_000001.10:g.173833573_173833574dup, NR_002746.1:n.11_12dup

Select item 103798997013.

rs1037989970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:173864417 (GRCh38)
1:173833555 (GRCh37)
Canonical SPDI:: NC_000001.11:173864416:C:T
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.173864417C>T, NC_000001.10:g.173833555C>T, NR_002746.1:n.29G>A

Select item 77924440614.

rs779244406 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:173864403 (GRCh38)
1:173833542 (GRCh37)
Canonical SPDI:: NC_000001.11:173864403:T:TT
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000009/1 (ExAC)
HGVS:: NC_000001.11:g.173864404dup, NC_000001.10:g.173833542dup, NR_002746.1:n.42dup

Select item 77685932015.

rs776859320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:173864435 (GRCh38)
1:173833573 (GRCh37)
Canonical SPDI:: NC_000001.11:173864434:C:T
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (ALSPAC)
T=0.0003/1 (TWINSUK)
HGVS:: NC_000001.11:g.173864435C>T, NC_000001.10:g.173833573C>T, NR_002746.1:n.11G>A

Select item 77491861216.

rs774918612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173864384 (GRCh38)
1:173833522 (GRCh37)
Canonical SPDI:: NC_000001.11:173864383:A:G
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
G=0.000009/1 (ExAC)
HGVS:: NC_000001.11:g.173864384A>G, NC_000001.10:g.173833522A>G, NR_002746.1:n.62T>C

Select item 77353964517.

rs773539645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:173864400 (GRCh38)
1:173833538 (GRCh37)
Canonical SPDI:: NC_000001.11:173864399:G:A,NC_000001.11:173864399:G:C
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000009/2 (GnomAD_exomes)
A=0.000018/2 (ExAC)
A=0.000049/13 (TOPMED)
HGVS:: NC_000001.11:g.173864400G>A, NC_000001.11:g.173864400G>C, NC_000001.10:g.173833538G>A, NC_000001.10:g.173833538G>C, NR_002746.1:n.46C>T, NR_002746.1:n.46C>G

Select item 76936779018.

rs769367790 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAT>- [Show Flanks]
Chromosome:: 1:173864430 (GRCh38)
1:173833568 (GRCh37)
Canonical SPDI:: NC_000001.11:173864427:ATCAT:AT
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
-=0.000022/5 (GnomAD_exomes)
-=0.000036/4 (ExAC)
-=0.000036/5 (GnomAD)
-=0.000042/11 (TOPMED)
-=0.000547/4 (GoESP)
HGVS:: NC_000001.11:g.173864430_173864432del, NC_000001.10:g.173833568_173833570del, NR_002746.1:n.16_18del

Select item 76915901319.

rs769159013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173864376 (GRCh38)
1:173833514 (GRCh37)
Canonical SPDI:: NC_000001.11:173864375:G:A
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000013/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000018/2 (ExAC)
HGVS:: NC_000001.11:g.173864376G>A, NC_000001.10:g.173833514G>A, NR_002746.1:n.70C>T

Select item 76811307620.

rs768113076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173864391 (GRCh38)
1:173833529 (GRCh37)
Canonical SPDI:: NC_000001.11:173864390:G:A
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000018/2 (ExAC)
A=0.000022/5 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.173864391G>A, NC_000001.10:g.173833529G>A, NR_002746.1:n.55C>T

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