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Details for SLCO1B3:c.1747+1G>A,

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
21051435	20898501

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1747+1G>A

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
8.157e-06	0.0	0.0	0.0	5.6e-05	0.0	0.0	0.0	3.392e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.361388	Disease causing

DBSNP ID

1 combination linked to SLCO1B3:c.1747+1G>A,

1 disease linked to SLCO1B3:c.1747+1G>A,

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