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Details for WNT9A:c.353-30G>A,

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
228112131	227924430

VARIANT EFFECT

unknown

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.353-30G>A

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0104	0.0008	0.0274	0.0238	0.0	0.0082

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01084	0.0005735	0.053	0.0	0.02751	0.0	3.777e-05	0.004509	0.008736

ESP
AA	EA
0.000227	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.331172	Polymorphism

DBSNP ID

1 combination linked to WNT9A:c.353-30G>A,

1 disease linked to WNT9A:c.353-30G>A,

46,XY disorder of sex development

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