rs78310315

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Unaffected carrier of an aromatase deficiency mutation

Make rs78310315(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

51211010

Gene

CYP19A1

is a	snp
is	mentioned by
dbSNP	rs78310315
dbSNP (classic)	rs78310315
ClinGen	rs78310315
ebi	rs78310315
HLI	rs78310315
Exac	rs78310315
Gnomad	rs78310315
Varsome	rs78310315
LitVar	rs78310315
Map	rs78310315
PheGenI	rs78310315
Biobank	rs78310315
1000 genomes	rs78310315
hgdp	rs78310315
ensembl	rs78310315
geneview	rs78310315
scholar	rs78310315
google	rs78310315
pharmgkb	rs78310315
gwascentral	rs78310315
openSNP	rs78310315
23andMe	rs78310315
SNPshot	rs78310315
SNPdbe	rs78310315
MSV3d	rs78310315
GWAS Ctlg	rs78310315

Max Magnitude

3

aka c.1310G>A (p.Cys437Tyr)

FTDNA & MyHeritage name: VG15S12228

OMIM	107910
Desc
Variant	0002
Related	also

ClinVar
Risk	rs78310315(T;T)
Alt	rs78310315(T;T)
Reference	Rs78310315(C;C)
Significance	Pathogenic
Disease	Aromatase deficiency
Variation	info
Gene	CYP19A1
CLNDBN	Aromatase deficiency
Reversed	0
HGVS	NC_000015.9:g.51503207C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019394.28,