SNP - NCBI

Format

Choose Destination

Select item 803564621.

rs80356462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:45767073 (GRCh38)
19:46270331 (GRCh37)
Canonical SPDI:: NC_000019.10:45767072:C:T
Gene:: SIX5 (Varview), DM1-AS (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Clinical significance:: likely-benign,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000111/4 (ALFA)
T=0.000046/5 (ExAC)
T=0.000055/13 (GnomAD_exomes)
T=0.000093/13 (GnomAD)
T=0.000151/40 (TOPMED)
T=0.000259/1 (ALSPAC)
T=0.000539/2 (TWINSUK)
HGVS:: NC_000019.10:g.45767073C>T, NC_000019.9:g.46270331C>T, NG_012745.1:g.7167G>A, NM_175875.5:c.886G>A, NM_175875.4:c.886G>A, NG_046372.1:g.381C>T, NP_787071.3:p.Ala296Thr

dbSNP