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Select item 18051821.

rs1805182 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCC,TCCTCC,TCCTCCTCC,TCCTCCTCCTCC,TCCTCCTCCTCCTCC [Show Flanks]
Chromosome:: 11:61958127 (GRCh38)
11:61725600 (GRCh37)
Canonical SPDI:: NC_000011.10:61958127:TCCTCCTCCTCCTCC:TCCTCCTCCTCCTCCTCC,NC_000011.10:61958127:TCCTCCTCCTCCTCC:TCCTCCTCCTCCTCCTCCTCC,NC_000011.10:61958127:TCCTCCTCCTCCTCC:TCCTCCTCCTCCTCCTCCTCCTCC,NC_000011.10:61958127:TCCTCCTCCTCCTCC:TCCTCCTCCTCCTCCTCCTCCTCCTCC,NC_000011.10:61958127:TCCTCCTCCTCCTCC:TCCTCCTCCTCCTCCTCCTCCTCCTCCTCC
Gene:: BEST1 (Varview), LOC107984334 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Clinical significance:: likely-benign,benign,benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTCCTCCTCCTCCTCCTCCTCCTCCTCC=0./0 (ALFA)
-=0./0 (Vietnamese)
-=0.05/2 (GENOME_DK)
-=0.10089/452 (Estonian)
-=0.105/63 (NorthernSweden)
HGVS:: NC_000011.10:g.61958128TCC[6], NC_000011.10:g.61958128TCC[7], NC_000011.10:g.61958128TCC[8], NC_000011.10:g.61958128TCC[9], NC_000011.10:g.61958128TCC[10], NC_000011.9:g.61725600TCC[6], NC_000011.9:g.61725600TCC[7], NC_000011.9:g.61725600TCC[8], NC_000011.9:g.61725600TCC[9], NC_000011.9:g.61725600TCC[10], NG_009033.1:g.13245TCC[6], NG_009033.1:g.13245TCC[7], NG_009033.1:g.13245TCC[8], NG_009033.1:g.13245TCC[9], NG_009033.1:g.13245TCC[10], XR_001748245.2:n.552GGA[6], XR_001748245.2:n.552GGA[7], XR_001748245.2:n.552GGA[8], XR_001748245.2:n.552GGA[9], XR_001748245.2:n.552GGA[10], XR_001748245.1:n.587GGA[6], XR_001748245.1:n.587GGA[7], XR_001748245.1:n.587GGA[8], XR_001748245.1:n.587GGA[9], XR_001748245.1:n.587GGA[10]

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