SNP Links for Nucleotide (Select 1169640623) - SNP

Links from Nucleotide

Items: 1 to 20 of 336

<< First< Prev

Page of 17

Next >Last >>

Select item 14908236021.

rs1490823602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:92837471 (GRCh38)
1:93303028 (GRCh37)
Canonical SPDI:: NC_000001.11:92837470:T:C
Gene:: SNORD21 (Varview), RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.92837471T>C, NC_000001.10:g.93303028T>C, NG_011779.2:g.10486T>C, NM_000969.5:c.543T>C, NM_000969.4:c.543T>C, NM_000969.3:c.543T>C, NR_146333.1:n.602T>C, NG_033051.1:g.129052A>G

Select item 14833229122.

rs1483322912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:92834815 (GRCh38)
1:93300372 (GRCh37)
Canonical SPDI:: NC_000001.11:92834814:T:C
Gene:: RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.92834815T>C, NC_000001.10:g.93300372T>C, NG_011779.2:g.7830T>C, NM_000969.5:c.226T>C, NM_000969.4:c.226T>C, NM_000969.3:c.226T>C, NR_146333.1:n.355T>C, NG_033051.1:g.131708A>G, NP_000960.2:p.Cys76Arg

Select item 14813538593.

rs1481353859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:92837585 (GRCh38)
1:93303142 (GRCh37)
Canonical SPDI:: NC_000001.11:92837584:C:A,NC_000001.11:92837584:C:T
Gene:: SNORD21 (Varview), RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: stop_gained,downstream_transcript_variant,synonymous_variant,intron_variant,non_coding_transcript_variant,500B_downstream_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.92837585C>A, NC_000001.11:g.92837585C>T, NC_000001.10:g.93303142C>A, NC_000001.10:g.93303142C>T, NG_011779.2:g.10600C>A, NG_011779.2:g.10600C>T, NM_000969.5:c.657C>A, NM_000969.5:c.657C>T, NM_000969.4:c.657C>A, NM_000969.4:c.657C>T, NM_000969.3:c.657C>A, NM_000969.3:c.657C>T, NR_146333.1:n.716C>A, NR_146333.1:n.716C>T, NG_033051.1:g.128938G>T, NG_033051.1:g.128938G>A, NP_000960.2:p.Tyr219Ter

Select item 14777776374.

rs1477777637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:92837563 (GRCh38)
1:93303120 (GRCh37)
Canonical SPDI:: NC_000001.11:92837562:T:A,NC_000001.11:92837562:T:C
Gene:: SNORD21 (Varview), RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,intron_variant,non_coding_transcript_variant,500B_downstream_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.92837563T>A, NC_000001.11:g.92837563T>C, NC_000001.10:g.93303120T>A, NC_000001.10:g.93303120T>C, NG_011779.2:g.10578T>A, NG_011779.2:g.10578T>C, NM_000969.5:c.635T>A, NM_000969.5:c.635T>C, NM_000969.4:c.635T>A, NM_000969.4:c.635T>C, NM_000969.3:c.635T>A, NM_000969.3:c.635T>C, NR_146333.1:n.694T>A, NR_146333.1:n.694T>C, NG_033051.1:g.128960A>T, NG_033051.1:g.128960A>G, NP_000960.2:p.Met212Lys, NP_000960.2:p.Met212Thr

Select item 14754276345.

rs1475427634 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:92833557 (GRCh38)
1:93299114 (GRCh37)
Canonical SPDI:: NC_000001.11:92833556:A:T
Gene:: RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.92833557A>T, NC_000001.10:g.93299114A>T, NG_011779.2:g.6572A>T, NM_000969.5:c.86A>T, NM_000969.4:c.86A>T, NM_000969.3:c.86A>T, NR_146333.1:n.215A>T, NG_033051.1:g.132966T>A, NP_000960.2:p.Asp29Val

Select item 14745111926.

rs1474511192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:92834822 (GRCh38)
1:93300379 (GRCh37)
Canonical SPDI:: NC_000001.11:92834821:C:G
Gene:: RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.92834822C>G, NC_000001.10:g.93300379C>G, NG_011779.2:g.7837C>G, NM_000969.5:c.233C>G, NM_000969.4:c.233C>G, NM_000969.3:c.233C>G, NR_146333.1:n.362C>G, NG_033051.1:g.131701G>C, NP_000960.2:p.Ala78Gly

Select item 14695780437.

rs1469578043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:92833642 (GRCh38)
1:93299199 (GRCh37)
Canonical SPDI:: NC_000001.11:92833641:C:A
Gene:: RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000001.11:g.92833642C>A, NC_000001.10:g.93299199C>A, NG_011779.2:g.6657C>A, NM_000969.5:c.171C>A, NM_000969.4:c.171C>A, NM_000969.3:c.171C>A, NR_146333.1:n.300C>A, NG_033051.1:g.132881G>T, NP_000960.2:p.Asn57Lys

Select item 14602078998.

rs1460207899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:92834782 (GRCh38)
1:93300339 (GRCh37)
Canonical SPDI:: NC_000001.11:92834781:G:A
Gene:: RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.92834782G>A, NC_000001.10:g.93300339G>A, NG_011779.2:g.7797G>A, NM_000969.5:c.193G>A, NM_000969.4:c.193G>A, NM_000969.3:c.193G>A, NR_146333.1:n.322G>A, NG_033051.1:g.131741C>T, NP_000960.2:p.Ala65Thr

Select item 14570608159.

rs1457060815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:92837623 (GRCh38)
1:93303180 (GRCh37)
Canonical SPDI:: NC_000001.11:92837622:C:T
Gene:: SNORD21 (Varview), RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,500B_downstream_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.92837623C>T, NC_000001.10:g.93303180C>T, NG_011779.2:g.10638C>T, NM_000969.5:c.695C>T, NM_000969.4:c.695C>T, NM_000969.3:c.695C>T, NR_146333.1:n.754C>T, NG_033051.1:g.128900G>A, NP_000960.2:p.Thr232Ile

Select item 145681027110.

rs1456810271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:92833655 (GRCh38)
1:93299212 (GRCh37)
Canonical SPDI:: NC_000001.11:92833654:T:A
Gene:: RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_downstream_transcript_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.92833655T>A, NC_000001.10:g.93299212T>A, NG_011779.2:g.6670T>A, NM_000969.5:c.184T>A, NM_000969.4:c.184T>A, NM_000969.3:c.184T>A, NR_146333.1:n.313T>A, NG_033051.1:g.132868A>T, NP_000960.2:p.Cys62Ser

Select item 145616903011.

rs1456169030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:92841893 (GRCh38)
1:93307450 (GRCh37)
Canonical SPDI:: NC_000001.11:92841892:G:A
Gene:: RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000001.11:g.92841893G>A, NC_000001.10:g.93307450G>A, NG_011779.2:g.14908G>A, NM_000969.5:c.*28G>A, NM_000969.4:c.*28G>A, NM_000969.3:c.*28G>A, NR_146333.1:n.981G>A, NG_033051.1:g.124630C>T

Select item 145110140512.

rs1451101405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:92841894 (GRCh38)
1:93307451 (GRCh37)
Canonical SPDI:: NC_000001.11:92841893:A:C
Gene:: RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.92841894A>C, NC_000001.10:g.93307451A>C, NG_011779.2:g.14909A>C, NM_000969.5:c.*29A>C, NM_000969.4:c.*29A>C, NM_000969.3:c.*29A>C, NR_146333.1:n.982A>C, NG_033051.1:g.124629T>G

Select item 144864472613.

rs1448644726 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 1:92841800 (GRCh38)
1:93307357 (GRCh37)
Canonical SPDI:: NC_000001.11:92841794:AGAAGAAG:AGAAG
Gene:: RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAAG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.92841797AAG[1], NC_000001.10:g.93307354AAG[1], NG_011779.2:g.14812AAG[1], NM_000969.5:c.826AAG[1], NM_000969.4:c.826AAG[1], NM_000969.3:c.826AAG[1], NR_146333.1:n.885AAG[1], NG_033051.1:g.124723TCT[1], NP_000960.2:p.Lys277del

Select item 144621451114.

rs1446214511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:92841814 (GRCh38)
1:93307371 (GRCh37)
Canonical SPDI:: NC_000001.11:92841813:T:C,NC_000001.11:92841813:T:G
Gene:: RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.92841814T>C, NC_000001.11:g.92841814T>G, NC_000001.10:g.93307371T>C, NC_000001.10:g.93307371T>G, NG_011779.2:g.14829T>C, NG_011779.2:g.14829T>G, NM_000969.5:c.843T>C, NM_000969.5:c.843T>G, NM_000969.4:c.843T>C, NM_000969.4:c.843T>G, NM_000969.3:c.843T>C, NM_000969.3:c.843T>G, NR_146333.1:n.902T>C, NR_146333.1:n.902T>G, NG_033051.1:g.124709A>G, NG_033051.1:g.124709A>C

Select item 144389514115.

rs1443895141 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:92840571 (GRCh38)
1:93306128 (GRCh37)
Canonical SPDI:: NC_000001.11:92840570:A:G
Gene:: RPL5 (Varview), SNORA66 (Varview), DIPK1A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.92840571A>G, NC_000001.10:g.93306128A>G, NG_011779.2:g.13586A>G, NM_000969.5:c.726A>G, NM_000969.4:c.726A>G, NM_000969.3:c.726A>G, NR_146333.1:n.785A>G, NG_033051.1:g.125952T>C

Select item 143729385316.

rs1437293853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:92841790 (GRCh38)
1:93307347 (GRCh37)
Canonical SPDI:: NC_000001.11:92841789:T:C
Gene:: RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.92841790T>C, NC_000001.10:g.93307347T>C, NG_011779.2:g.14805T>C, NM_000969.5:c.819T>C, NM_000969.4:c.819T>C, NM_000969.3:c.819T>C, NR_146333.1:n.878T>C, NG_033051.1:g.124733A>G

Select item 143500950117.

rs1435009501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:92834825 (GRCh38)
1:93300382 (GRCh37)
Canonical SPDI:: NC_000001.11:92834824:A:T
Gene:: RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.92834825A>T, NC_000001.10:g.93300382A>T, NG_011779.2:g.7840A>T, NM_000969.5:c.236A>T, NM_000969.4:c.236A>T, NM_000969.3:c.236A>T, NR_146333.1:n.365A>T, NG_033051.1:g.131698T>A, NP_000960.2:p.Tyr79Phe

Select item 142953934918.

rs1429539349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:92841911 (GRCh38)
1:93307468 (GRCh37)
Canonical SPDI:: NC_000001.11:92841910:A:T
Gene:: RPL5 (Varview), DIPK1A (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.92841911A>T, NC_000001.10:g.93307468A>T, NG_011779.2:g.14926A>T, NM_000969.5:c.*46A>T, NM_000969.4:c.*46A>T, NM_000969.3:c.*46A>T, NR_146333.1:n.999A>T, NG_033051.1:g.124612T>A

Select item 142891044719.

rs1428910447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:92832038 (GRCh38)
1:93297595 (GRCh37)
Canonical SPDI:: NC_000001.11:92832037:G:A
Gene:: RPL5 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.92832038G>A, NC_000001.10:g.93297595G>A, NG_011779.2:g.5053G>A, NR_146333.1:n.53G>A, NG_033051.1:g.134485C>T, NM_000969.4:c.-77G>A, NM_000969.3:c.-77G>A

Select item 142727038920.

rs1427270389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:92832027 (GRCh38)
1:93297584 (GRCh37)
Canonical SPDI:: NC_000001.11:92832026:C:A,NC_000001.11:92832026:C:T
Gene:: RPL5 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.92832027C>A, NC_000001.11:g.92832027C>T, NC_000001.10:g.93297584C>A, NC_000001.10:g.93297584C>T, NG_011779.2:g.5042C>A, NG_011779.2:g.5042C>T, NR_146333.1:n.42C>A, NR_146333.1:n.42C>T, NG_033051.1:g.134496G>T, NG_033051.1:g.134496G>A, NM_000969.4:c.-88C>A, NM_000969.4:c.-88C>T

<< First< Prev

Page of 17

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 336

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity