SNP Links for Nucleotide (Select 642945649) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118531082 (GRCh38)
11:118401797 (GRCh37)
Canonical SPDI:: NC_000011.10:118531081:G:A
Gene:: TMEM25 (Varview), TTC36 (Varview), TTC36-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_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_000011.10:g.118531082G>A, NC_000011.9:g.118401797G>A, NW_003871072.2:g.156520G>A, NM_001080441.3:c.*166G>A, NM_001080441.2:c.*166G>A, NM_001346096.1:c.*166G>A, NM_001346097.1:c.*166G>A, NM_001346098.1:c.*166G>A, NR_120576.1:n.13C>T

Select item 14108750488.

rs1410875048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118531089 (GRCh38)
11:118401804 (GRCh37)
Canonical SPDI:: NC_000011.10:118531088:G:A
Gene:: TMEM25 (Varview), TTC36 (Varview), TTC36-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.118531089G>A, NC_000011.9:g.118401804G>A, NW_003871072.2:g.156527G>A, NM_032780.3:c.-173G>A, NM_001080441.3:c.*173G>A, NM_001080441.2:c.*173G>A, NM_001144034.1:c.-173G>A, NM_001144035.1:c.-170G>A, NM_001318757.1:c.-173G>A, NM_001144036.1:c.-173G>A, NR_134852.1:n.2G>A, NM_001144037.1:c.-173G>A, NM_001144038.1:c.-173G>A, NM_001318755.1:c.-173G>A, NM_001346096.1:c.*173G>A, NM_001346097.1:c.*173G>A, NM_001346098.1:c.*173G>A, NR_120576.1:n.6C>T

Select item 14022173389.

rs1402217338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118531040 (GRCh38)
11:118401755 (GRCh37)
Canonical SPDI:: NC_000011.10:118531039:C:T
Gene:: TMEM25 (Varview), TTC36 (Varview), TTC36-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000564/1 (Korea1K)
HGVS:: NC_000011.10:g.118531040C>T, NC_000011.9:g.118401755C>T, NW_003871072.2:g.156478C>T, NM_001080441.3:c.*124C>T, NM_001080441.2:c.*124C>T, NM_001346096.1:c.*124C>T, NM_001346097.1:c.*124C>T, NM_001346098.1:c.*124C>T, NR_120576.1:n.55G>A

Select item 139726966210.

rs1397269662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:118531038 (GRCh38)
11:118401753 (GRCh37)
Canonical SPDI:: NC_000011.10:118531037:C:G
Gene:: TMEM25 (Varview), TTC36 (Varview), TTC36-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118531038C>G, NC_000011.9:g.118401753C>G, NW_003871072.2:g.156476C>G, NM_001080441.3:c.*122C>G, NM_001080441.2:c.*122C>G, NM_001346096.1:c.*122C>G, NM_001346097.1:c.*122C>G, NM_001346098.1:c.*122C>G, NR_120576.1:n.57G>C

Select item 139166227511.

rs1391662275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118531051 (GRCh38)
11:118401766 (GRCh37)
Canonical SPDI:: NC_000011.10:118531050:G:A
Gene:: TMEM25 (Varview), TTC36 (Varview), TTC36-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_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_000011.10:g.118531051G>A, NC_000011.9:g.118401766G>A, NW_003871072.2:g.156489G>A, NM_001080441.3:c.*135G>A, NM_001080441.2:c.*135G>A, NM_001346096.1:c.*135G>A, NM_001346097.1:c.*135G>A, NM_001346098.1:c.*135G>A, NR_120576.1:n.44C>T

Select item 138999873212.

rs1389998732 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118519562 (GRCh38)
11:118390277 (GRCh37)
Canonical SPDI:: NC_000011.10:118519561:A:G
Gene:: KMT2A (Varview), TTC36-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000057/8 (GnomAD)
G=0.000072/19 (TOPMED)
HGVS:: NC_000011.10:g.118519562A>G, NC_000011.9:g.118390277A>G, NG_027813.1:g.88073A>G, NW_003871072.2:g.145000A>G, NR_120572.1:n.563T>C, NR_120575.1:n.476T>C, NR_120573.1:n.456T>C, NR_120576.1:n.288T>C

Select item 138433919313.

rs1384339193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118519561 (GRCh38)
11:118390276 (GRCh37)
Canonical SPDI:: NC_000011.10:118519560:C:T
Gene:: KMT2A (Varview), TTC36-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118519561C>T, NC_000011.9:g.118390276C>T, NG_027813.1:g.88072C>T, NW_003871072.2:g.144999C>T, NR_120572.1:n.564G>A, NR_120575.1:n.477G>A, NR_120573.1:n.457G>A, NR_120576.1:n.289G>A

Select item 137199366214.

rs1371993662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:118531084 (GRCh38)
11:118401799 (GRCh37)
Canonical SPDI:: NC_000011.10:118531083:G:C
Gene:: TMEM25 (Varview), TTC36 (Varview), TTC36-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.118531084G>C, NC_000011.9:g.118401799G>C, NW_003871072.2:g.156522G>C, NM_001080441.3:c.*168G>C, NM_001080441.2:c.*168G>C, NM_001346096.1:c.*168G>C, NM_001346097.1:c.*168G>C, NM_001346098.1:c.*168G>C, NR_120576.1:n.11C>G

Select item 136906600815.

rs1369066008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:118530998 (GRCh38)
11:118401713 (GRCh37)
Canonical SPDI:: NC_000011.10:118530997:G:A,NC_000011.10:118530997:G:T
Gene:: TMEM25 (Varview), TTC36 (Varview), TTC36-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.118530998G>A, NC_000011.10:g.118530998G>T, NC_000011.9:g.118401713G>A, NC_000011.9:g.118401713G>T, NW_003871072.2:g.156436G>A, NW_003871072.2:g.156436G>T, NM_001080441.3:c.*82G>A, NM_001080441.3:c.*82G>T, NM_001080441.2:c.*82G>A, NM_001080441.2:c.*82G>T, NM_001346096.1:c.*82G>A, NM_001346096.1:c.*82G>T, NM_001346097.1:c.*82G>A, NM_001346097.1:c.*82G>T, NM_001080441.1:c.*82G>A, NM_001080441.1:c.*82G>T, NM_001346098.1:c.*82G>A, NM_001346098.1:c.*82G>T, NR_120576.1:n.97C>T, NR_120576.1:n.97C>A

Select item 132904405816.

rs1329044058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:118519536 (GRCh38)
11:118390251 (GRCh37)
Canonical SPDI:: NC_000011.10:118519535:T:C
Gene:: KMT2A (Varview), TTC36-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.118519536T>C, NC_000011.9:g.118390251T>C, NG_027813.1:g.88047T>C, NW_003871072.2:g.144974T>C, NR_120572.1:n.589A>G, NR_120575.1:n.502A>G, NR_120573.1:n.482A>G, NR_120576.1:n.314A>G

Select item 132498280217.

rs1324982802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118519501 (GRCh38)
11:118390216 (GRCh37)
Canonical SPDI:: NC_000011.10:118519500:A:G
Gene:: KMT2A (Varview), TTC36-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000011.10:g.118519501A>G, NC_000011.9:g.118390216A>G, NG_027813.1:g.88012A>G, NW_003871072.2:g.144939A>G, NR_120572.1:n.624T>C, NR_120575.1:n.537T>C, NR_120573.1:n.517T>C, NR_120576.1:n.349T>C

Select item 131169806118.

rs1311698061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:118531079 (GRCh38)
11:118401794 (GRCh37)
Canonical SPDI:: NC_000011.10:118531078:G:C
Gene:: TMEM25 (Varview), TTC36 (Varview), TTC36-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118531079G>C, NC_000011.9:g.118401794G>C, NW_003871072.2:g.156517G>C, NM_001080441.3:c.*163G>C, NM_001080441.2:c.*163G>C, NM_001346096.1:c.*163G>C, NM_001346097.1:c.*163G>C, NM_001346098.1:c.*163G>C, NR_120576.1:n.16C>G

Select item 130831529619.

rs1308315296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118531085 (GRCh38)
11:118401800 (GRCh37)
Canonical SPDI:: NC_000011.10:118531084:C:T
Gene:: TMEM25 (Varview), TTC36 (Varview), TTC36-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
T=0.000057/8 (GnomAD)
T=0.000087/23 (TOPMED)
HGVS:: NC_000011.10:g.118531085C>T, NC_000011.9:g.118401800C>T, NW_003871072.2:g.156523C>T, NM_001080441.3:c.*169C>T, NM_001080441.2:c.*169C>T, NM_001346096.1:c.*169C>T, NM_001346097.1:c.*169C>T, NM_001346098.1:c.*169C>T, NR_120576.1:n.10G>A

Select item 130331960020.

rs1303319600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118519391 (GRCh38)
11:118390106 (GRCh37)
Canonical SPDI:: NC_000011.10:118519390:G:A
Gene:: KMT2A (Varview), TTC36-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118519391G>A, NC_000011.9:g.118390106G>A, NG_027813.1:g.87902G>A, NW_003871072.2:g.144829G>A, NR_120572.1:n.734C>T, NR_120575.1:n.647C>T, NR_120573.1:n.627C>T, NR_120576.1:n.459C>T

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