rs267607095

Orientation

plus

Stabilized

plus

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

Make rs267607095(C;T)

Make rs267607095(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

55364133

Gene

SRD5A3

is a	snp
is	mentioned by
dbSNP	rs267607095
dbSNP (classic)	rs267607095
ClinGen	rs267607095
ebi	rs267607095
HLI	rs267607095
Exac	rs267607095
Gnomad	rs267607095
Varsome	rs267607095
LitVar	rs267607095
Map	rs267607095
PheGenI	rs267607095
Biobank	rs267607095
1000 genomes	rs267607095
hgdp	rs267607095
ensembl	rs267607095
geneview	rs267607095
scholar	rs267607095
google	rs267607095
pharmgkb	rs267607095
gwascentral	rs267607095
openSNP	rs267607095
23andMe	rs267607095
SNPshot	rs267607095
SNPdbe	rs267607095
MSV3d	rs267607095
GWAS Ctlg	rs267607095

Max Magnitude

0

ClinVar
Risk	rs267607095(T;T)
Alt	rs267607095(T;T)
Reference	Rs267607095(C;C)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1Q
Variation	info
Gene	SRD5A3
CLNDBN	Congenital disorder of glycosylation type 1Q
Reversed	0
HGVS	NC_000004.11:g.56230300C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000892.3,