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Select item 583317651.

rs58331765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:94047046 (GRCh38)
1:94512602 (GRCh37)
Canonical SPDI:: NC_000001.11:94047045:C:A,NC_000001.11:94047045:C:G,NC_000001.11:94047045:C:T
Gene:: ABCA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance,pathogenic,likely-pathogenic,conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000198/17 (ALFA)
T=0.000488/59 (ExAC)
T=0.002084/164 (PAGE_STUDY)
T=0.002498/16 (1000Genomes_30X)
T=0.002796/14 (1000Genomes)
T=0.00463/1 (Qatari)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.94047046C>A, NC_000001.11:g.94047046C>G, NC_000001.11:g.94047046C>T, NC_000001.10:g.94512602C>A, NC_000001.10:g.94512602C>G, NC_000001.10:g.94512602C>T, NG_009073.2:g.79102G>T, NG_009073.2:g.79102G>C, NG_009073.2:g.79102G>A, NG_009073.1:g.79104G>T, NG_009073.1:g.79104G>C, NG_009073.1:g.79104G>A, NM_000350.3:c.2791G>T, NM_000350.3:c.2791G>C, NM_000350.3:c.2791G>A, NM_000350.2:c.2791G>T, NM_000350.2:c.2791G>C, NM_000350.2:c.2791G>A, NM_001425324.1:c.2569G>T, NM_001425324.1:c.2569G>C, NM_001425324.1:c.2569G>A, XM_047416704.1:c.2569G>T, XM_047416704.1:c.2569G>C, XM_047416704.1:c.2569G>A, NP_000341.2:p.Val931Leu, NP_000341.2:p.Val931Leu, NP_000341.2:p.Val931Met, XP_047272660.1:p.Val857Leu, XP_047272660.1:p.Val857Leu, XP_047272660.1:p.Val857Met

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