rs374514431

Orientation

plus

Stabilized

plus

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

Make rs374514431(A;A)

Make rs374514431(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

69400462

Gene

NFU1

is a	snp
is	mentioned by
dbSNP	rs374514431
dbSNP (classic)	rs374514431
ClinGen	rs374514431
ebi	rs374514431
HLI	rs374514431
Exac	rs374514431
Gnomad	rs374514431
Varsome	rs374514431
LitVar	rs374514431
Map	rs374514431
PheGenI	rs374514431
Biobank	rs374514431
1000 genomes	rs374514431
hgdp	rs374514431
ensembl	rs374514431
geneview	rs374514431
scholar	rs374514431
google	rs374514431
pharmgkb	rs374514431
gwascentral	rs374514431
openSNP	rs374514431
23andMe	rs374514431
SNPshot	rs374514431
SNPdbe	rs374514431
MSV3d	rs374514431
GWAS Ctlg	rs374514431

Max Magnitude

0

ClinVar
Risk	rs374514431(A;A)
Alt	rs374514431(A;A)
Reference	Rs374514431(C;C)
Significance	Pathogenic
Disease	Multiple mitochondrial dysfunctions syndrome 1 not provided
Variation	info
Gene	NFU1
CLNDBN	Multiple mitochondrial dysfunctions syndrome 1 not provided
Reversed	0
HGVS	NC_000002.11:g.69627594C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023678.3, RCV000385109.1,