rs121918377

Orientation

minus

Stabilized

minus

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

Make rs121918377(A;A)

Make rs121918377(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81935110

Gene

PYCR1

is a	snp
is	mentioned by
dbSNP	rs121918377
dbSNP (classic)	rs121918377
ClinGen	rs121918377
ebi	rs121918377
HLI	rs121918377
Exac	rs121918377
Gnomad	rs121918377
Varsome	rs121918377
LitVar	rs121918377
Map	rs121918377
PheGenI	rs121918377
Biobank	rs121918377
1000 genomes	rs121918377
hgdp	rs121918377
ensembl	rs121918377
geneview	rs121918377
scholar	rs121918377
google	rs121918377
pharmgkb	rs121918377
gwascentral	rs121918377
openSNP	rs121918377
23andMe	rs121918377
SNPshot	rs121918377
SNPdbe	rs121918377
MSV3d	rs121918377
GWAS Ctlg	rs121918377

GMAF

0.0009183

Max Magnitude

0

OMIM	179035
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121918377(A;A)
Alt	rs121918377(A;A)
Reference	Rs121918377(G;G)
Significance	Pathogenic
Disease	Autosomal recessive cutis laxa type 2B
Variation	info
Gene	PYCR1
CLNDBN	Autosomal recessive cutis laxa type 2B
Reversed	1
HGVS	NC_000017.10:g.79892986C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014084.25,