SNP Links for Nucleotide (Select 53759133) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128818706 (GRCh38)
9:131580985 (GRCh37)
Canonical SPDI:: NC_000009.12:128818705:C:T
Gene:: ENDOG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.128818706C>T, NC_000009.11:g.131580985C>T, NG_046991.1:g.5296C>T, NM_004435.2:c.22C>T, XM_011518347.3:c.22C>T, XM_011518347.2:c.289C>T, XM_011518347.1:c.289C>T

Select item 14862017806.

rs1486201780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128818764 (GRCh38)
9:131581043 (GRCh37)
Canonical SPDI:: NC_000009.12:128818763:G:A
Gene:: ENDOG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.128818764G>A, NC_000009.11:g.131581043G>A, NG_046991.1:g.5354G>A, NM_004435.2:c.80G>A, XM_011518347.3:c.80G>A, XM_011518347.2:c.347G>A, XM_011518347.1:c.347G>A, NP_004426.2:p.Arg27Gln, XP_011516649.2:p.Arg27Gln

Select item 14801426307.

rs1480142630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128818655 (GRCh38)
9:131580934 (GRCh37)
Canonical SPDI:: NC_000009.12:128818654:G:A
Gene:: ENDOG (Varview)
Functional Consequence:: 5_prime_UTR_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_000009.12:g.128818655G>A, NC_000009.11:g.131580934G>A, NG_046991.1:g.5245G>A, NM_004435.2:c.-30G>A, XM_011518347.3:c.-30G>A, XM_011518347.2:c.238G>A, XM_011518347.1:c.238G>A

Select item 14789292898.

rs1478929289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128818569 (GRCh38)
9:131580848 (GRCh37)
Canonical SPDI:: NC_000009.12:128818568:G:A
Gene:: ENDOG (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.128818569G>A, NC_000009.11:g.131580848G>A, NG_046991.1:g.5159G>A, NM_004435.2:c.-116G>A, XM_011518347.3:c.-116G>A, XM_011518347.2:c.152G>A, XM_011518347.1:c.152G>A

Select item 14770724669.

rs1477072466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128818917 (GRCh38)
9:131581196 (GRCh37)
Canonical SPDI:: NC_000009.12:128818916:G:A
Gene:: ENDOG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.128818917G>A, NC_000009.11:g.131581196G>A, NG_046991.1:g.5507G>A, NM_004435.2:c.233G>A, XM_011518347.3:c.233G>A, XM_011518347.2:c.500G>A, XM_011518347.1:c.500G>A, NP_004426.2:p.Arg78His, XP_011516649.2:p.Arg78His

Select item 147587616510.

rs1475876165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:128819147 (GRCh38)
9:131581426 (GRCh37)
Canonical SPDI:: NC_000009.12:128819146:A:G
Gene:: ENDOG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.128819147A>G, NC_000009.11:g.131581426A>G, NG_046991.1:g.5737A>G, NM_004435.2:c.463A>G, XM_011518347.3:c.463A>G, XM_011518347.2:c.730A>G, XM_011518347.1:c.730A>G, NP_004426.2:p.Met155Val, XP_011516649.2:p.Met155Val

Select item 147574824511.

rs1475748245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:128818723 (GRCh38)
9:131581002 (GRCh37)
Canonical SPDI:: NC_000009.12:128818722:C:A,NC_000009.12:128818722:C:T
Gene:: ENDOG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.128818723C>A, NC_000009.12:g.128818723C>T, NC_000009.11:g.131581002C>A, NC_000009.11:g.131581002C>T, NG_046991.1:g.5313C>A, NG_046991.1:g.5313C>T, NM_004435.2:c.39C>A, NM_004435.2:c.39C>T, XM_011518347.3:c.39C>A, XM_011518347.3:c.39C>T, XM_011518347.2:c.306C>A, XM_011518347.2:c.306C>T, XM_011518347.1:c.306C>A, XM_011518347.1:c.306C>T

Select item 147562585612.

rs1475625856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128822539 (GRCh38)
9:131584818 (GRCh37)
Canonical SPDI:: NC_000009.12:128822538:G:A
Gene:: ENDOG (Varview), SPOUT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
HGVS:: NC_000009.12:g.128822539G>A, NC_000009.11:g.131584818G>A, NG_046991.1:g.9129G>A, NM_004435.2:c.823G>A, NM_016390.4:c.*226C>T, NM_016390.3:c.*226C>T, XM_011518347.3:c.*200G>A, XM_011518347.2:c.*200G>A, XM_011518347.1:c.*200G>A, XM_047423460.1:c.*226C>T, XM_047423459.1:c.*186C>T, XM_047423461.1:c.*186C>T, XM_047423462.1:c.*186C>T, XM_047423463.1:c.*186C>T, NP_004426.2:p.Gly275Arg

Select item 147561269313.

rs1475612693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:128818999 (GRCh38)
9:131581278 (GRCh37)
Canonical SPDI:: NC_000009.12:128818998:C:A
Gene:: ENDOG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000009.12:g.128818999C>A, NC_000009.11:g.131581278C>A, NG_046991.1:g.5589C>A, NM_004435.2:c.315C>A, XM_011518347.3:c.315C>A, XM_011518347.2:c.582C>A, XM_011518347.1:c.582C>A

Select item 147278110114.

rs1472781101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128818720 (GRCh38)
9:131580999 (GRCh37)
Canonical SPDI:: NC_000009.12:128818719:G:A
Gene:: ENDOG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000009.12:g.128818720G>A, NC_000009.11:g.131580999G>A, NG_046991.1:g.5310G>A, NM_004435.2:c.36G>A, XM_011518347.3:c.36G>A, XM_011518347.2:c.303G>A, XM_011518347.1:c.303G>A

Select item 147213790915.

rs1472137909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128822386 (GRCh38)
9:131584665 (GRCh37)
Canonical SPDI:: NC_000009.12:128822385:G:A
Gene:: ENDOG (Varview), SPOUT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.128822386G>A, NC_000009.11:g.131584665G>A, NG_046991.1:g.8976G>A, NM_004435.2:c.670G>A, NM_016390.4:c.*379C>T, NM_016390.3:c.*379C>T, XM_011518347.3:c.*47G>A, XM_011518347.2:c.*47G>A, XM_011518347.1:c.*47G>A, XM_047423460.1:c.*379C>T, XM_047423459.1:c.*339C>T, XM_047423461.1:c.*339C>T, XM_047423462.1:c.*339C>T, XM_047423463.1:c.*339C>T, NP_004426.2:p.Ala224Thr

Select item 147130583416.

rs1471305834 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCGTGGCG>- [Show Flanks]
Chromosome:: 9:128818814 (GRCh38)
9:131581093 (GRCh37)
Canonical SPDI:: NC_000009.12:128818812:GCCCGTGGCG:G
Gene:: ENDOG (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.128818814_128818822del, NC_000009.11:g.131581093_131581101del, NG_046991.1:g.5404_5412del, NM_004435.2:c.130_138del, XM_011518347.3:c.130_138del, XM_011518347.2:c.397_405del, XM_011518347.1:c.397_405del, NP_004426.2:p.Pro44_Ala46del, XP_011516649.2:p.Pro44_Ala46del

Select item 146585745617.

rs1465857456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:128818715 (GRCh38)
9:131580994 (GRCh37)
Canonical SPDI:: NC_000009.12:128818714:G:T
Gene:: ENDOG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.128818715G>T, NC_000009.11:g.131580994G>T, NG_046991.1:g.5305G>T, NM_004435.2:c.31G>T, XM_011518347.3:c.31G>T, XM_011518347.2:c.298G>T, XM_011518347.1:c.298G>T, NP_004426.2:p.Ala11Ser, XP_011516649.2:p.Ala11Ser

Select item 146513840818.

rs1465138408 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:128818586 (GRCh38)
9:131580865 (GRCh37)
Canonical SPDI:: NC_000009.12:128818585:T:C
Gene:: ENDOG (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.128818586T>C, NC_000009.11:g.131580865T>C, NG_046991.1:g.5176T>C, NM_004435.2:c.-99T>C, XM_011518347.3:c.-99T>C, XM_011518347.2:c.169T>C, XM_011518347.1:c.169T>C

Select item 146511276719.

rs1465112767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:128819172 (GRCh38)
9:131581451 (GRCh37)
Canonical SPDI:: NC_000009.12:128819171:A:G
Gene:: ENDOG (Varview), SPOUT1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant
HGVS:: NC_000009.12:g.128819172A>G, NC_000009.11:g.131581451A>G, NG_046991.1:g.5762A>G, NM_004435.2:c.488A>G, XM_011518347.3:c.488A>G, XM_011518347.2:c.755A>G, XM_011518347.1:c.755A>G, NP_004426.2:p.Asn163Ser, XP_011516649.2:p.Asn163Ser

Select item 146498985120.

rs1464989851 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:128818909 (GRCh38)
9:131581189 (GRCh37)
Canonical SPDI:: NC_000009.12:128818909::G
Gene:: ENDOG (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.128818909_128818910insG, NC_000009.11:g.131581188_131581189insG, NG_046991.1:g.5499_5500insG, NM_004435.2:c.225_226insG, XM_011518347.3:c.225_226insG, XM_011518347.2:c.492_493insG, XM_011518347.1:c.492_493insG, NP_004426.2:p.Lys76fs, XP_011516649.2:p.Lys76fs

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