SNP Links for Nucleotide (Select 32526881) - SNP

Links from Nucleotide

Items: 1 to 20 of 28

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Select item 14302601561.

rs1430260156 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACAGT>- [Show Flanks]
Chromosome:: 1:44778425 (GRCh38)
1:45244097 (GRCh37)
Canonical SPDI:: NC_000001.11:44778423:TGACAGT:T
Gene:: RPS8 (Varview), SNORD38B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44778425_44778430del, NC_000001.10:g.45244097_45244102del, NR_001457.1:n.36_41del

Select item 13784098712.

rs1378409871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:44778433 (GRCh38)
1:45244105 (GRCh37)
Canonical SPDI:: NC_000001.11:44778432:G:A
Gene:: RPS8 (Varview), SNORD38B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000001.11:g.44778433G>A, NC_000001.10:g.45244105G>A, NR_001457.1:n.44G>A

Select item 13658145563.

rs1365814556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:44778432 (GRCh38)
1:45244104 (GRCh37)
Canonical SPDI:: NC_000001.11:44778431:A:G
Gene:: RPS8 (Varview), SNORD38B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44778432A>G, NC_000001.10:g.45244104A>G, NR_001457.1:n.43A>G

Select item 13098010434.

rs1309801043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:44778395 (GRCh38)
1:45244067 (GRCh37)
Canonical SPDI:: NC_000001.11:44778394:G:T
Gene:: RPS8 (Varview), SNORD38A (Varview), SNORD38B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44778395G>T, NC_000001.10:g.45244067G>T, NR_001457.1:n.6G>T

Select item 13062531385.

rs1306253138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:44778450 (GRCh38)
1:45244122 (GRCh37)
Canonical SPDI:: NC_000001.11:44778449:C:A,NC_000001.11:44778449:C:T
Gene:: RPS8 (Varview), SNORD38B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.44778450C>A, NC_000001.11:g.44778450C>T, NC_000001.10:g.45244122C>A, NC_000001.10:g.45244122C>T, NR_001457.1:n.61C>A, NR_001457.1:n.61C>T

Select item 12807353336.

rs1280735333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:44778391 (GRCh38)
1:45244063 (GRCh37)
Canonical SPDI:: NC_000001.11:44778390:C:T
Gene:: RPS8 (Varview), SNORD38A (Varview), SNORD38B (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44778391C>T, NC_000001.10:g.45244063C>T, NR_001457.1:n.2C>T

Select item 12699384457.

rs1269938445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:44778409 (GRCh38)
1:45244081 (GRCh37)
Canonical SPDI:: NC_000001.11:44778408:G:C
Gene:: RPS8 (Varview), SNORD38A (Varview), SNORD38B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44778409G>C, NC_000001.10:g.45244081G>C, NR_001457.1:n.20G>C

Select item 12511402098.

rs1251140209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:44778399 (GRCh38)
1:45244071 (GRCh37)
Canonical SPDI:: NC_000001.11:44778398:T:C
Gene:: RPS8 (Varview), SNORD38A (Varview), SNORD38B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44778399T>C, NC_000001.10:g.45244071T>C, NR_001457.1:n.10T>C

Select item 12373376899.

rs1237337689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:44778423 (GRCh38)
1:45244095 (GRCh37)
Canonical SPDI:: NC_000001.11:44778422:C:T
Gene:: RPS8 (Varview), SNORD38B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.44778423C>T, NC_000001.10:g.45244095C>T, NR_001457.1:n.34C>T

Select item 122993327010.

rs1229933270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:44778420 (GRCh38)
1:45244092 (GRCh37)
Canonical SPDI:: NC_000001.11:44778419:C:A
Gene:: RPS8 (Varview), SNORD38B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.44778420C>A, NC_000001.10:g.45244092C>A, NR_001457.1:n.31C>A

Select item 122873709811.

rs1228737098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:44778396 (GRCh38)
1:45244068 (GRCh37)
Canonical SPDI:: NC_000001.11:44778395:T:C
Gene:: RPS8 (Varview), SNORD38A (Varview), SNORD38B (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44778396T>C, NC_000001.10:g.45244068T>C, NR_001457.1:n.7T>C

Select item 121461717012.

rs1214617170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:44778441 (GRCh38)
1:45244113 (GRCh37)
Canonical SPDI:: NC_000001.11:44778440:A:G,NC_000001.11:44778440:A:T
Gene:: RPS8 (Varview), SNORD38B (Varview)
Functional Consequence:: 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=0.000014/2 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.44778441A>G, NC_000001.11:g.44778441A>T, NC_000001.10:g.45244113A>G, NC_000001.10:g.45244113A>T, NR_001457.1:n.52A>G, NR_001457.1:n.52A>T

Select item 117100832313.

rs1171008323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:44778426 (GRCh38)
1:45244098 (GRCh37)
Canonical SPDI:: NC_000001.11:44778425:A:C
Gene:: RPS8 (Varview), SNORD38B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44778426A>C, NC_000001.10:g.45244098A>C, NR_001457.1:n.37A>C

Select item 105173701914.

rs1051737019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:44778434 (GRCh38)
1:45244106 (GRCh37)
Canonical SPDI:: NC_000001.11:44778433:T:C
Gene:: RPS8 (Varview), SNORD38B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.44778434T>C, NC_000001.10:g.45244106T>C, NR_001457.1:n.45T>C

Select item 100157249415.

rs1001572494 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:44778458 (GRCh38)
1:45244130 (GRCh37)
Canonical SPDI:: NC_000001.11:44778457:A:G
Gene:: RPS8 (Varview), SNORD38B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.44778458A>G, NC_000001.10:g.45244130A>G, NR_001457.1:n.69A>G

Select item 97015286716.

rs970152867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:44778429 (GRCh38)
1:45244101 (GRCh37)
Canonical SPDI:: NC_000001.11:44778428:G:A
Gene:: RPS8 (Varview), SNORD38B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44778429G>A, NC_000001.10:g.45244101G>A, NR_001457.1:n.40G>A

Select item 77989267717.

rs779892677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:44778419 (GRCh38)
1:45244091 (GRCh37)
Canonical SPDI:: NC_000001.11:44778418:G:A,NC_000001.11:44778418:G:C
Gene:: RPS8 (Varview), SNORD38B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000009/1 (ExAC)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.44778419G>A, NC_000001.11:g.44778419G>C, NC_000001.10:g.45244091G>A, NC_000001.10:g.45244091G>C, NR_001457.1:n.30G>A, NR_001457.1:n.30G>C

Select item 77638364318.

rs776383643 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:44778406 (GRCh38)
1:45244078 (GRCh37)
Canonical SPDI:: NC_000001.11:44778405:TTT:TT
Gene:: RPS8 (Varview), SNORD38A (Varview), SNORD38B (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000009/1 (ExAC)
-=0.000012/3 (GnomAD_exomes)
-=0.000042/11 (TOPMED)
-=0.000161/2 (GoESP)
HGVS:: NC_000001.11:g.44778408del, NC_000001.10:g.45244080del, NR_001457.1:n.19del

Select item 77465474319.

rs774654743 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:44778440 (GRCh38)
1:45244112 (GRCh37)
Canonical SPDI:: NC_000001.11:44778439:T:C
Gene:: RPS8 (Varview), SNORD38B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (ExAC)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44778440T>C, NC_000001.10:g.45244112T>C, NR_001457.1:n.51T>C

Select item 77157928320.

rs771579283 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:44778439 (GRCh38)
1:45244111 (GRCh37)
Canonical SPDI:: NC_000001.11:44778438:A:C
Gene:: RPS8 (Varview), SNORD38B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/2 (GnomAD_exomes)
C=0.000017/2 (ExAC)
HGVS:: NC_000001.11:g.44778439A>C, NC_000001.10:g.45244111A>C, NR_001457.1:n.50A>C

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Links from Nucleotide

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