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Select item 1194730331.

rs119473033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:216478216 (GRCh38)
2:217342939 (GRCh37)
Canonical SPDI:: NC_000002.12:216478215:G:T
Gene:: SMARCAL1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Clinical significance:: likely-pathogenic,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000136/27 (ALFA)
T=0.000013/1 (PAGE_STUDY)
T=0.000042/11 (TOPMED)
T=0.00008/20 (GnomAD_exomes)
T=0.000115/14 (ExAC)
T=0.000128/18 (GnomAD)
T=0.000223/1 (Estonian)
T=0.003289/1 (FINRISK)
G=0.5/1 (Siberian)
HGVS:: NC_000002.12:g.216478216G>T, NC_000002.11:g.217342939G>T, NG_009771.1:g.70803G>T, NM_014140.4:c.2542G>T, NM_014140.3:c.2542G>T, NM_001127207.2:c.2542G>T, NM_001127207.1:c.2542G>T, NP_054859.2:p.Glu848Ter, NP_001120679.1:p.Glu848Ter

dbSNP