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Select item 22349271.

rs2234927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:171638703 (GRCh38)
1:171607843 (GRCh37)
Canonical SPDI:: NC_000001.11:171638702:G:A,NC_000001.11:171638702:G:C
Gene:: MYOC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000463/53 (ALFA)
C=0.000271/38 (GnomAD)
C=0.000291/77 (TOPMED)
C=0.000625/3 (1000Genomes)
C=0.000966/76 (PAGE_STUDY)
C=0.002455/11 (Estonian)
C=0.003311/1 (FINRISK)
C=0.006502/19 (KOREAN)
C=0.008838/7 (PRJEB37584)
C=0.009825/18 (Korea1K)
C=0.012139/203 (TOMMO)
G=0.5/1 (Siberian)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000001.11:g.171638703G>A, NC_000001.11:g.171638703G>C, NC_000001.10:g.171607843G>A, NC_000001.10:g.171607843G>C, NG_008859.1:g.18931C>T, NG_008859.1:g.18931C>G, NM_000261.2:c.624C>T, NM_000261.2:c.624C>G, NM_000261.1:c.624C>T, NM_000261.1:c.624C>G, NP_000252.1:p.Asp208Glu

dbSNP