rs121918519

Orientation

plus

Stabilized

plus

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

Make rs121918519(C;T)

Make rs121918519(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11448604

Gene

PRKCSH

is a	snp
is	mentioned by
dbSNP	rs121918519
dbSNP (classic)	rs121918519
ClinGen	rs121918519
ebi	rs121918519
HLI	rs121918519
Exac	rs121918519
Gnomad	rs121918519
Varsome	rs121918519
LitVar	rs121918519
Map	rs121918519
PheGenI	rs121918519
Biobank	rs121918519
1000 genomes	rs121918519
hgdp	rs121918519
ensembl	rs121918519
geneview	rs121918519
scholar	rs121918519
google	rs121918519
pharmgkb	rs121918519
gwascentral	rs121918519
openSNP	rs121918519
23andMe	rs121918519
SNPshot	rs121918519
SNPdbe	rs121918519
MSV3d	rs121918519
GWAS Ctlg	rs121918519

Max Magnitude

0

OMIM	177060
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918519(T;T)
Alt	rs121918519(T;T)
Reference	Rs121918519(C;C)
Significance	Pathogenic
Disease	Congenital cystic disease of liver
Variation	info
Gene	PRKCSH
CLNDBN	Congenital cystic disease of liver
Reversed	0
HGVS	NC_000019.9:g.11559419C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014146.26,