rs121918374

Orientation

minus

Stabilized

minus

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

Make rs121918374(A;A)

Make rs121918374(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81934326

Gene

PYCR1

is a	snp
is	mentioned by
dbSNP	rs121918374
dbSNP (classic)	rs121918374
ClinGen	rs121918374
ebi	rs121918374
HLI	rs121918374
Exac	rs121918374
Gnomad	rs121918374
Varsome	rs121918374
LitVar	rs121918374
Map	rs121918374
PheGenI	rs121918374
Biobank	rs121918374
1000 genomes	rs121918374
hgdp	rs121918374
ensembl	rs121918374
geneview	rs121918374
scholar	rs121918374
google	rs121918374
pharmgkb	rs121918374
gwascentral	rs121918374
openSNP	rs121918374
23andMe	rs121918374
SNPshot	rs121918374
SNPdbe	rs121918374
MSV3d	rs121918374
GWAS Ctlg	rs121918374

Max Magnitude

0

OMIM	179035
Desc
Variant	0001
Related	also

OMIM	179035
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918374(A;A)
Alt	rs121918374(A;A)
Reference	Rs121918374(G;G)
Significance	Pathogenic
Disease	Autosomal recessive cutis laxa type 2B not provided
Variation	info
Gene	PYCR1
CLNDBN	Autosomal recessive cutis laxa type 2B not provided
Reversed	1
HGVS	NC_000017.10:g.79892202C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014078.24, RCV000489299.1,