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Select item 289375681.

rs28937568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:76304007 (GRCh38)
7:75933324 (GRCh37)
Canonical SPDI:: NC_000007.14:76304006:C:G,NC_000007.14:76304006:C:T
Gene:: HSPB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.0000036/5 (GnomAD_exomes)
G=0.0000076/2 (TOPMED)
T=0.0000127/1 (PAGE_STUDY)
G=0.0000268/4 (GnomAD_genomes)
G=0.0001562/1 (1000Genomes_30X)
G=0.0001997/1 (1000Genomes)
HGVS:: NC_000007.14:g.76304007C>G, NC_000007.14:g.76304007C>T, NC_000007.13:g.75933324C>G, NC_000007.13:g.75933324C>T, NG_008995.1:g.6450C>G, NG_008995.1:g.6450C>T, NM_001540.5:c.452C>G, NM_001540.5:c.452C>T, NM_001540.4:c.452C>G, NM_001540.4:c.452C>T, NM_001540.3:c.452C>G, NM_001540.3:c.452C>T, NP_001531.1:p.Thr151Ser, NP_001531.1:p.Thr151Ile

Supplemental Content

dbSNP