rs1057516075

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs1057516075(A;A)

Make rs1057516075(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

15246

Gene

CYTB

is a	snp
is	mentioned by
dbSNP	rs1057516075
dbSNP (classic)	rs1057516075
ClinGen	rs1057516075
ebi	rs1057516075
HLI	rs1057516075
Exac	rs1057516075
Gnomad	rs1057516075
Varsome	rs1057516075
LitVar	rs1057516075
Map	rs1057516075
PheGenI	rs1057516075
Biobank	rs1057516075
1000 genomes	rs1057516075
hgdp	rs1057516075
ensembl	rs1057516075
geneview	rs1057516075
scholar	rs1057516075
google	rs1057516075
pharmgkb	rs1057516075
gwascentral	rs1057516075
openSNP	rs1057516075
23andMe	rs1057516075
SNPshot	rs1057516075
SNPdbe	rs1057516075
MSV3d	rs1057516075
GWAS Ctlg	rs1057516075

Max Magnitude

0

ClinVar
Risk	rs1057516075(A;A)
Alt	rs1057516075(A;A)
Reference	Rs1057516075(G;G)
Significance	Probable-Pathogenic
Disease	Developmental delay Hearing impairment Macrocephaly
Variation	info
Gene	CYTB
CLNDBN	Developmental delay Hearing impairment Macrocephaly
Reversed	0
HGVS	NC_012920.1:m.15246G>A
CLNSRC
CLNACC	RCV000408934.1,