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Select item 74325511.

rs7432551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:138946187 (GRCh38)
3:138665029 (GRCh37)
Canonical SPDI:: NC_000003.12:138946186:G:A,NC_000003.12:138946186:G:C
Gene:: FOXL2 (Varview), FOXL2NB (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.02239/482 (ALFA)
C=0.01389/3 (Vietnamese)
C=0.01391/40 (KOREAN)
C=0.01414/25 (Korea1K)
C=0.01583/61 (ALSPAC)
C=0.01969/73 (TWINSUK)
C=0.02167/13 (NorthernSweden)
C=0.04176/187 (Estonian)
C=0.04579/4117 (GnomAD_exomes)
C=0.07913/823 (ExAC)
C=0.1104/1850 (TOMMO)
C=0.15147/759 (1000Genomes)
C=0.15278/33 (Qatari)
G=0.25/1 (Siberian)
G=0.4359/34 (SGDP_PRJ)
HGVS:: NC_000003.12:g.138946187G>A, NC_000003.12:g.138946187G>C, NC_000003.11:g.138665029G>A, NC_000003.11:g.138665029G>C, NG_029796.1:g.3954G>A, NG_029796.1:g.3954G>C, NG_012454.1:g.5954C>T, NG_012454.1:g.5954C>G, NM_023067.4:c.536C>T, NM_023067.4:c.536C>G, NM_023067.3:c.536C>T, NM_023067.3:c.536C>G, NP_075555.1:p.Ala179Val, NP_075555.1:p.Ala179Gly

dbSNP