SNP Links for Nucleotide (Select 215820625) - SNP

Links from Nucleotide

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Select item 14908960201.

rs1490896020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:2883241 (GRCh38)
16:2933242 (GRCh37)
Canonical SPDI:: NC_000016.10:2883240:T:A
Gene:: FLYWCH2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2883241T>A, NC_000016.9:g.2933242T>A, XM_005255078.6:c.-224T>A, XM_005255078.5:c.-224T>A, XM_005255078.4:c.-224T>A, XM_005255078.3:c.-224T>A, XM_005255078.2:c.-224T>A, XM_005255078.1:c.-224T>A, NM_138439.3:c.-325T>A, NM_138439.2:c.-325T>A, NM_001142500.1:c.-321T>A, NM_001142499.1:c.-231T>A, XM_047433572.1:c.-325T>A

Select item 14905047192.

rs1490504719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:2899116 (GRCh38)
16:2949117 (GRCh37)
Canonical SPDI:: NC_000016.10:2899115:C:A,NC_000016.10:2899115:C:T
Gene:: FLYWCH2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.2899116C>A, NC_000016.10:g.2899116C>T, NC_000016.9:g.2949117C>A, NC_000016.9:g.2949117C>T, XM_005255078.6:c.390C>A, XM_005255078.6:c.390C>T, XM_005255078.5:c.390C>A, XM_005255078.5:c.390C>T, XM_005255078.4:c.390C>A, XM_005255078.4:c.390C>T, XM_005255078.3:c.390C>A, XM_005255078.3:c.390C>T, XM_005255078.2:c.390C>A, XM_005255078.2:c.390C>T, XM_005255078.1:c.390C>A, XM_005255078.1:c.390C>T, NM_138439.3:c.390C>A, NM_138439.3:c.390C>T, NM_138439.2:c.390C>A, NM_138439.2:c.390C>T, NM_001142500.1:c.390C>A, NM_001142500.1:c.390C>T, NM_001142499.1:c.390C>A, NM_001142499.1:c.390C>T

Select item 14873610843.

rs1487361084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:2883206 (GRCh38)
16:2933207 (GRCh37)
Canonical SPDI:: NC_000016.10:2883205:G:T
Gene:: FLYWCH2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.2883206G>T, NC_000016.9:g.2933207G>T, NM_138439.2:c.-360G>T, NM_001142500.1:c.-356G>T, NM_001142499.1:c.-266G>T

Select item 14847396494.

rs1484739649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:2895223 (GRCh38)
16:2945224 (GRCh37)
Canonical SPDI:: NC_000016.10:2895222:A:G
Gene:: FLYWCH2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_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_000016.10:g.2895223A>G, NC_000016.9:g.2945224A>G, NM_138439.3:c.-196A>G, NM_138439.2:c.-196A>G, NM_001142500.1:c.-196A>G, NM_001142499.1:c.-196A>G, XM_047433572.1:c.-196A>G