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Details for HFE:c.-48C>G,

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
26087621	26087393

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.-48C>G

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0	0.0043	0.001	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001148	0.0001291	0.001129	0.006701	0.0003268	0.0	0.0009334	0.002305	0.001731

ESP
AA	EA
0.0002272	0.001047

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	-0.365237	Polymorphism

DBSNP ID

1 combination linked to HFE:c.-48C>G,

1 disease linked to HFE:c.-48C>G,

Amyotrophic lateral sclerosis

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