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Details for BMP2:

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
7106289	7125642

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.4217	0.6551	0.3948	0.3899	0.328	0.2546

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	-0.035144	None

DBSNP ID

11 combinations linked to BMP2:

OLI1358; OLI1359; OLI1360; OLI1361; OLI1362; OLI1363; OLI1364; OLI1365; OLI1366; OLI1367; OLI1368

3 diseases linked to BMP2:

Non-syndromic metopic and sagittal craniosynostosis; Non-syndromic sagittal craniosynostosis; Non-syndromic metopic craniosynostosis

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