rs121917999

Orientation

plus

Stabilized

plus

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

Make rs121917999(A;A)

Make rs121917999(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

94418528

Gene

ABCD3

is a	snp
is	mentioned by
dbSNP	rs121917999
dbSNP (classic)	rs121917999
ClinGen	rs121917999
ebi	rs121917999
HLI	rs121917999
Exac	rs121917999
Gnomad	rs121917999
Varsome	rs121917999
LitVar	rs121917999
Map	rs121917999
PheGenI	rs121917999
Biobank	rs121917999
1000 genomes	rs121917999
hgdp	rs121917999
ensembl	rs121917999
geneview	rs121917999
scholar	rs121917999
google	rs121917999
pharmgkb	rs121917999
gwascentral	rs121917999
openSNP	rs121917999
23andMe	rs121917999
SNPshot	rs121917999
SNPdbe	rs121917999
MSV3d	rs121917999
GWAS Ctlg	rs121917999

Max Magnitude

0

OMIM	170995
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121917999(A;A)
Alt	rs121917999(A;A)
Reference	Rs121917999(G;G)
Significance	Pathogenic
Disease	Zellweger syndrome 2
Variation	info
Gene	ABCD3
CLNDBN	Zellweger syndrome 2
Reversed	0
HGVS	NC_000001.10:g.94884084G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030895.3,