SNP Links for Nucleotide (Select 149944545) - SNP

Links from Nucleotide

Items: 1 to 20 of 80

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Select item 14897906591.

rs1489790659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:35218226 (GRCh38)
20:33806029 (GRCh37)
Canonical SPDI:: NC_000020.11:35218225:T:G
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.35218226T>G, NC_000020.10:g.33806029T>G, NG_005652.3:g.318T>G, NM_080757.1:c.*41T>G

Select item 14836538532.

rs1483653853 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:35217930 (GRCh38)
20:33805733 (GRCh37)
Canonical SPDI:: NC_000020.11:35217929:A:G
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.35217930A>G, NC_000020.10:g.33805733A>G, NG_005652.3:g.22A>G, NM_001355008.2:c.-220T>C, NM_001355008.1:c.-220T>C

Select item 14783693323.

rs1478369332 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:35218049 (GRCh38)
20:33805852 (GRCh37)
Canonical SPDI:: NC_000020.11:35218048:C:G,NC_000020.11:35218048:C:T
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000020.11:g.35218049C>G, NC_000020.11:g.35218049C>T, NC_000020.10:g.33805852C>G, NC_000020.10:g.33805852C>T, NG_005652.3:g.141C>G, NG_005652.3:g.141C>T, NM_001355008.2:c.-339G>C, NM_001355008.2:c.-339G>A, NM_001355008.1:c.-339G>C, NM_001355008.1:c.-339G>A, NM_080757.1:c.41C>G, NM_080757.1:c.41C>T

Select item 14740283334.

rs1474028333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:35217953 (GRCh38)
20:33805756 (GRCh37)
Canonical SPDI:: NC_000020.11:35217952:G:C
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.35217953G>C, NC_000020.10:g.33805756G>C, NG_005652.3:g.45G>C, NM_001355008.2:c.-243C>G, NM_001355008.1:c.-243C>G

Select item 14665467535.

rs1466546753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:35218128 (GRCh38)
20:33805931 (GRCh37)
Canonical SPDI:: NC_000020.11:35218127:C:G
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.35218128C>G, NC_000020.10:g.33805931C>G, NG_005652.3:g.220C>G, NM_080757.1:c.120C>G

Select item 14617705456.

rs1461770545 has merged into rs1191267613 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 20:35218238 (GRCh38)
20:33806041 (GRCh37)
Canonical SPDI:: NC_000020.11:35218237:TTTTTTTT:TTTTTTT,NC_000020.11:35218237:TTTTTTTT:TTTTTTTTT
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.35218245del, NC_000020.11:g.35218245dup, NC_000020.10:g.33806048del, NC_000020.10:g.33806048dup, NG_005652.3:g.337del, NG_005652.3:g.337dup, NM_080757.1:c.*60del, NM_080757.1:c.*60dup

Select item 14581949367.

rs1458194936 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 20:35218278 (GRCh38)
20:33806081 (GRCh37)
Canonical SPDI:: NC_000020.11:35218277:T:A,NC_000020.11:35218277:T:G
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.35218278T>A, NC_000020.11:g.35218278T>G, NC_000020.10:g.33806081T>A, NC_000020.10:g.33806081T>G, NG_005652.3:g.370T>A, NG_005652.3:g.370T>G, NM_080757.1:c.*93T>A, NM_080757.1:c.*93T>G

Select item 14482533588.

rs1448253358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:35218224 (GRCh38)
20:33806027 (GRCh37)
Canonical SPDI:: NC_000020.11:35218223:C:A,NC_000020.11:35218223:C:T
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000020.11:g.35218224C>A, NC_000020.11:g.35218224C>T, NC_000020.10:g.33806027C>A, NC_000020.10:g.33806027C>T, NG_005652.3:g.316C>A, NG_005652.3:g.316C>T, NM_080757.1:c.*39C>A, NM_080757.1:c.*39C>T

Select item 14386621149.

rs1438662114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:35218125 (GRCh38)
20:33805928 (GRCh37)
Canonical SPDI:: NC_000020.11:35218124:G:A
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.35218125G>A, NC_000020.10:g.33805928G>A, NG_005652.3:g.217G>A, NM_080757.1:c.117G>A

Select item 142624005810.

rs1426240058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:35218138 (GRCh38)
20:33805941 (GRCh37)
Canonical SPDI:: NC_000020.11:35218137:T:C
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_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_000020.11:g.35218138T>C, NC_000020.10:g.33805941T>C, NG_005652.3:g.230T>C, NM_080757.1:c.130T>C

Select item 141736799511.

rs1417367995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:35217950 (GRCh38)
20:33805753 (GRCh37)
Canonical SPDI:: NC_000020.11:35217949:C:T
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000020.11:g.35217950C>T, NC_000020.10:g.33805753C>T, NG_005652.3:g.42C>T, NM_001355008.2:c.-240G>A, NM_001355008.1:c.-240G>A

Select item 141629893512.

rs1416298935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:35218047 (GRCh38)
20:33805850 (GRCh37)
Canonical SPDI:: NC_000020.11:35218046:C:T
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: 5_prime_UTR_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_000020.11:g.35218047C>T, NC_000020.10:g.33805850C>T, NG_005652.3:g.139C>T, NM_001355008.2:c.-337G>A, NM_001355008.1:c.-337G>A, NM_080757.1:c.39C>T

Select item 139232362613.

rs1392323626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:35218126 (GRCh38)
20:33805929 (GRCh37)
Canonical SPDI:: NC_000020.11:35218125:G:C,NC_000020.11:35218125:G:T
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.35218126G>C, NC_000020.11:g.35218126G>T, NC_000020.10:g.33805929G>C, NC_000020.10:g.33805929G>T, NG_005652.3:g.218G>C, NG_005652.3:g.218G>T, NM_080757.1:c.118G>C, NM_080757.1:c.118G>T

Select item 138075360814.

rs1380753608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:35218085 (GRCh38)
20:33805888 (GRCh37)
Canonical SPDI:: NC_000020.11:35218084:G:C
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.35218085G>C, NC_000020.10:g.33805888G>C, NG_005652.3:g.177G>C, NM_080757.1:c.77G>C

Select item 136150861915.

rs1361508619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:35218094 (GRCh38)
20:33805897 (GRCh37)
Canonical SPDI:: NC_000020.11:35218093:G:A
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.35218094G>A, NC_000020.10:g.33805897G>A, NG_005652.3:g.186G>A, NM_080757.1:c.86G>A

Select item 136145768716.

rs1361457687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:35218015 (GRCh38)
20:33805818 (GRCh37)
Canonical SPDI:: NC_000020.11:35218014:C:A
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.35218015C>A, NC_000020.10:g.33805818C>A, NG_005652.3:g.107C>A, NM_001355008.2:c.-305G>T, NM_001355008.1:c.-305G>T, NM_080757.1:c.7C>A

Select item 136069535217.

rs1360695352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:35217934 (GRCh38)
20:33805737 (GRCh37)
Canonical SPDI:: NC_000020.11:35217933:G:C
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: 5_prime_UTR_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_000020.11:g.35217934G>C, NC_000020.10:g.33805737G>C, NG_005652.3:g.26G>C, NM_001355008.2:c.-224C>G, NM_001355008.1:c.-224C>G

Select item 134092248918.

rs1340922489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:35218077 (GRCh38)
20:33805880 (GRCh37)
Canonical SPDI:: NC_000020.11:35218076:G:A
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_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_000020.11:g.35218077G>A, NC_000020.10:g.33805880G>A, NG_005652.3:g.169G>A, NM_080757.1:c.69G>A

Select item 131843355719.

rs1318433557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:35218180 (GRCh38)
20:33805983 (GRCh37)
Canonical SPDI:: NC_000020.11:35218179:G:A
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.35218180G>A, NC_000020.10:g.33805983G>A, NG_005652.3:g.272G>A, NM_080757.1:c.172G>A

Select item 131179100320.

rs1311791003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:35218134 (GRCh38)
20:33805937 (GRCh37)
Canonical SPDI:: NC_000020.11:35218133:C:T
Gene:: MMP24-AS1-EDEM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.35218134C>T, NC_000020.10:g.33805937C>T, NG_005652.3:g.226C>T, NM_080757.1:c.126C>T

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Items: 1 to 20 of 80

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