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Details for SPIDR:c.566+1G>T,

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
48309187	47396627

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.566+1G>T

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
4.1e-06	0.0	0.0	0.0	5.65e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.351019	Disease causing

DBSNP ID

1 combination linked to SPIDR:c.566+1G>T,

1 disease linked to SPIDR:c.566+1G>T,

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