SNP Links for Nucleotide (Select 732170690) - SNP

Links from Nucleotide

Items: 20

Select item 14736525651.

rs1473652565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63919900 (GRCh38)
20:62551253 (GRCh37)
Canonical SPDI:: NC_000020.11:63919899:C:T
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63919900C>T, NC_000020.10:g.62551253C>T, NG_029805.2:g.29799C>T, NG_032854.1:g.1476C>T, XM_047440634.1:c.501C>T, NR_128719.1:n.33C>T

Select item 14684370302.

rs1468437030 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63919875 (GRCh38)
20:62551228 (GRCh37)
Canonical SPDI:: NC_000020.11:63919874:A:G
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000042/6 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63919875A>G, NC_000020.10:g.62551228A>G, NG_029805.2:g.29774A>G, NG_032854.1:g.1451A>G, XM_047440634.1:c.476A>G, NR_128719.1:n.8A>G, XP_047296590.1:p.His159Arg

Select item 14608636813.

rs1460863681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63919918 (GRCh38)
20:62551271 (GRCh37)
Canonical SPDI:: NC_000020.11:63919917:C:T
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63919918C>T, NC_000020.10:g.62551271C>T, NG_029805.2:g.29817C>T, NG_032854.1:g.1494C>T, XM_047440634.1:c.519C>T, NR_128719.1:n.51C>T

Select item 12107380824.

rs1210738082 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:63919882 (GRCh38)
20:62551236 (GRCh37)
Canonical SPDI:: NC_000020.11:63919882:A:AA
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63919883dup, NC_000020.10:g.62551236dup, NG_029805.2:g.29782dup, NG_032854.1:g.1459dup, XM_047440634.1:c.484dup, NR_128719.1:n.16dup, XP_047296590.1:p.Arg162fs

Select item 7746817505.

rs774681750 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:63919875 (GRCh38)
20:62551228 (GRCh37)
Canonical SPDI:: NC_000020.11:63919874:AT:
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,non_coding_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/1 (ExAC)
HGVS:: NC_000020.11:g.63919875_63919876del, NC_000020.10:g.62551228_62551229del, NG_029805.2:g.29774_29775del, NG_032854.1:g.1451_1452del, XM_047440634.1:c.476_477del, NR_128719.1:n.8_9del, XP_047296590.1:p.His159fs

Select item 7709783076.

rs770978307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63919884 (GRCh38)
20:62551237 (GRCh37)
Canonical SPDI:: NC_000020.11:63919883:G:A
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant,500B_downstream_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00003/1 (ExAC)
HGVS:: NC_000020.11:g.63919884G>A, NC_000020.10:g.62551237G>A, NG_029805.2:g.29783G>A, NG_032854.1:g.1460G>A, XM_047440634.1:c.485G>A, NR_128719.1:n.17G>A, XP_047296590.1:p.Arg162Lys

Select item 7671587627.

rs767158762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63919897 (GRCh38)
20:62551250 (GRCh37)
Canonical SPDI:: NC_000020.11:63919896:C:T
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/3 (GnomAD_exomes)
T=0.000031/1 (ExAC)
HGVS:: NC_000020.11:g.63919897C>T, NC_000020.10:g.62551250C>T, NG_029805.2:g.29796C>T, NG_032854.1:g.1473C>T, XM_047440634.1:c.498C>T, NR_128719.1:n.30C>T

Select item 7654815158.

rs765481515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63919913 (GRCh38)
20:62551266 (GRCh37)
Canonical SPDI:: NC_000020.11:63919912:G:A
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant,500B_downstream_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD_exomes)
A=0.000028/1 (ExAC)
HGVS:: NC_000020.11:g.63919913G>A, NC_000020.10:g.62551266G>A, NG_029805.2:g.29812G>A, NG_032854.1:g.1489G>A, XM_047440634.1:c.514G>A, NR_128719.1:n.46G>A, XP_047296590.1:p.Ala172Thr

Select item 7619784329.

rs761978432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63919906 (GRCh38)
20:62551259 (GRCh37)
Canonical SPDI:: NC_000020.11:63919905:A:G
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.00003/1 (ExAC)
HGVS:: NC_000020.11:g.63919906A>G, NC_000020.10:g.62551259A>G, NG_029805.2:g.29805A>G, NG_032854.1:g.1482A>G, XM_047440634.1:c.507A>G, NR_128719.1:n.39A>G

Select item 76059549010.

rs760595490 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGGACAGCGCCACGGAAGAGGACGCACCCGGC>- [Show Flanks]
Chromosome:: 20:63919889 (GRCh38)
20:62551242 (GRCh37)
Canonical SPDI:: NC_000020.11:63919887:CCGGGACAGCGCCACGGAAGAGGACGCACCCGGC:C
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,inframe_deletion,intron_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00003/4 (GnomAD_exomes)
-=0.000241/8 (ExAC)
-=0.000336/2 (TOMMO)
-=0.001515/1 (Korea1K)
HGVS:: NC_000020.11:g.63919889_63919921del, NC_000020.10:g.62551242_62551274del, NG_029805.2:g.29788_29820del, NG_032854.1:g.1465_1497del, XM_047440634.1:c.490_522del, NR_128719.1:n.22_54del, XP_047296590.1:p.Arg164_Gly174del

Select item 75952233311.

rs759522333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63919890 (GRCh38)
20:62551243 (GRCh37)
Canonical SPDI:: NC_000020.11:63919889:G:A
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant,500B_downstream_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00059/7 (ALFA)
A=0.000008/1 (GnomAD_exomes)
A=0.000031/1 (ExAC)
A=0.013666/17 (KOREAN)
HGVS:: NC_000020.11:g.63919890G>A, NC_000020.10:g.62551243G>A, NG_029805.2:g.29789G>A, NG_032854.1:g.1466G>A, XM_047440634.1:c.491G>A, NR_128719.1:n.23G>A, XP_047296590.1:p.Arg164Gln

Select item 75255556412.

rs752555564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63919903 (GRCh38)
20:62551256 (GRCh37)
Canonical SPDI:: NC_000020.11:63919902:G:A
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant,intron_variant
Validated:: by frequency
MAF:: A=0./0 (ExAC)
HGVS:: NC_000020.11:g.63919903G>A, NC_000020.10:g.62551256G>A, NG_029805.2:g.29802G>A, NG_032854.1:g.1479G>A, XM_047440634.1:c.504G>A, NR_128719.1:n.36G>A

Select item 55812748813.

rs558127488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63919889 (GRCh38)
20:62551242 (GRCh37)
Canonical SPDI:: NC_000020.11:63919888:C:T
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (ExAC)
T=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63919889C>T, NC_000020.10:g.62551242C>T, NG_029805.2:g.29788C>T, NG_032854.1:g.1465C>T, XM_047440634.1:c.490C>T, NR_128719.1:n.22C>T, XP_047296590.1:p.Arg164Trp

Select item 54984933714.

rs549849337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63919912 (GRCh38)
20:62551265 (GRCh37)
Canonical SPDI:: NC_000020.11:63919911:C:T
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD_exomes)
T=0.000599/3 (1000Genomes)
HGVS:: NC_000020.11:g.63919912C>T, NC_000020.10:g.62551265C>T, NG_029805.2:g.29811C>T, NG_032854.1:g.1488C>T, XM_047440634.1:c.513C>T, NR_128719.1:n.45C>T

Select item 11220579715.

rs112205797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63919902 (GRCh38)
20:62551255 (GRCh37)
Canonical SPDI:: NC_000020.11:63919901:C:T
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
T=0.000015/2 (GnomAD_exomes)
T=0.000095/1 (GnomAD)
HGVS:: NC_000020.11:g.63919902C>T, NC_000020.10:g.62551255C>T, NG_029805.2:g.29801C>T, NG_032854.1:g.1478C>T, XM_047440634.1:c.503C>T, NR_128719.1:n.35C>T, XP_047296590.1:p.Thr168Met

Select item 11169605916.

rs111696059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63919869 (GRCh38)
20:62551222 (GRCh37)
Canonical SPDI:: NC_000020.11:63919868:G:A
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000020.11:g.63919869G>A, NC_000020.10:g.62551222G>A, NG_029805.2:g.29768G>A, NG_032854.1:g.1445G>A, XM_047440634.1:c.470G>A, NR_128719.1:n.2G>A, XP_047296590.1:p.Cys157Tyr

Select item 11158674517.

rs111586745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63919925 (GRCh38)
20:62551278 (GRCh37)
Canonical SPDI:: NC_000020.11:63919924:G:A
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00002/1 (ExAC)
HGVS:: NC_000020.11:g.63919925G>A, NC_000020.10:g.62551278G>A, NG_029805.2:g.29824G>A, NG_032854.1:g.1501G>A, XM_047440634.1:c.526G>A, NR_128719.1:n.58G>A, XP_047296590.1:p.Val176Met

Select item 3554477018.

rs35544770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63919919 (GRCh38)
20:62551272 (GRCh37)
Canonical SPDI:: NC_000020.11:63919918:G:A
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000020.11:g.63919919G>A, NC_000020.10:g.62551272G>A, NG_029805.2:g.29818G>A, NG_032854.1:g.1495G>A, XM_047440634.1:c.520G>A, NR_128719.1:n.52G>A, XP_047296590.1:p.Gly174Ser

PubMed

Select item 1262545419.

rs12625454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:63919928 (GRCh38)
20:62551281 (GRCh37)
Canonical SPDI:: NC_000020.11:63919927:C:G
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.019895/236 (ALFA)
G=0.00029/47 (GnomAD_exomes)
G=0.000786/10 (TOMMO)
G=0.00198/34 (GnomAD)
G=0.012463/17 (KOREAN)
C=0.125/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.63919928C>G, NC_000020.10:g.62551281C>G, NG_029805.2:g.29827C>G, NG_032854.1:g.1504C>G, XM_047440634.1:c.529C>G, NR_128719.1:n.61C>G, XP_047296590.1:p.His177Asp

PubMed

Select item 1262544520.

rs12625445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:63919872 (GRCh38)
20:62551225 (GRCh37)
Canonical SPDI:: NC_000020.11:63919871:C:G
Gene:: DNAJC5 (Varview), MIR941-1 (Varview), MIR941-4 (Varview), MIR941-2 (Varview), MIR941-3 (Varview), MIR941-5 (Varview), LOC124904951 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00028/3 (ALFA)
C=0./0 (SGDP_PRJ)
G=0.0022/11 (1000Genomes)
G=0.01751/20 (KOREAN)
HGVS:: NC_000020.11:g.63919872C>G, NC_000020.10:g.62551225C>G, NG_029805.2:g.29771C>G, NG_032854.1:g.1448C>G, XM_047440634.1:c.473C>G, NR_128719.1:n.5C>G, XP_047296590.1:p.Ala158Gly

PubMed

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 20

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity