rs121908315

Orientation

minus

Stabilized

minus

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

Make rs121908315(A;A)

Make rs121908315(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

3653454

Gene

PIP5K1C

is a	snp
is	mentioned by
dbSNP	rs121908315
dbSNP (classic)	rs121908315
ClinGen	rs121908315
ebi	rs121908315
HLI	rs121908315
Exac	rs121908315
Gnomad	rs121908315
Varsome	rs121908315
LitVar	rs121908315
Map	rs121908315
PheGenI	rs121908315
Biobank	rs121908315
1000 genomes	rs121908315
hgdp	rs121908315
ensembl	rs121908315
geneview	rs121908315
scholar	rs121908315
google	rs121908315
pharmgkb	rs121908315
gwascentral	rs121908315
openSNP	rs121908315
23andMe	rs121908315
SNPshot	rs121908315
SNPdbe	rs121908315
MSV3d	rs121908315
GWAS Ctlg	rs121908315

Max Magnitude

0

OMIM	606102
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908315(A;A)
Alt	rs121908315(A;A)
Reference	Rs121908315(G;G)
Significance	Pathogenic
Disease	Lethal congenital contractural syndrome 3
Variation	info
Gene	PIP5K1C
CLNDBN	Lethal congenital contractural syndrome 3
Reversed	1
HGVS	NC_000019.9:g.3653452C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004878.2,