rs121918378

Orientation

minus

Stabilized

minus

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

Make rs121918378(A;A)

Make rs121918378(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81934371

Gene

PYCR1

is a	snp
is	mentioned by
dbSNP	rs121918378
dbSNP (classic)	rs121918378
ClinGen	rs121918378
ebi	rs121918378
HLI	rs121918378
Exac	rs121918378
Gnomad	rs121918378
Varsome	rs121918378
LitVar	rs121918378
Map	rs121918378
PheGenI	rs121918378
Biobank	rs121918378
1000 genomes	rs121918378
hgdp	rs121918378
ensembl	rs121918378
geneview	rs121918378
scholar	rs121918378
google	rs121918378
pharmgkb	rs121918378
gwascentral	rs121918378
openSNP	rs121918378
23andMe	rs121918378
SNPshot	rs121918378
SNPdbe	rs121918378
MSV3d	rs121918378
GWAS Ctlg	rs121918378

Max Magnitude

0

OMIM	179035
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121918378(A;A)
Alt	rs121918378(A;A)
Reference	Rs121918378(G;G)
Significance	Pathogenic
Disease	Autosomal recessive cutis laxa type 3B
Variation	info
Gene	PYCR1
CLNDBN	Autosomal recessive cutis laxa type 3B
Reversed	1
HGVS	NC_000017.10:g.79892247C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014085.24,