rs139073416

Orientation

plus

Stabilized

plus

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

Make rs139073416(A;A)

Make rs139073416(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

26795056

Gene

PIGV

is a	snp
is	mentioned by
dbSNP	rs139073416
dbSNP (classic)	rs139073416
ClinGen	rs139073416
ebi	rs139073416
HLI	rs139073416
Exac	rs139073416
Gnomad	rs139073416
Varsome	rs139073416
LitVar	rs139073416
Map	rs139073416
PheGenI	rs139073416
Biobank	rs139073416
1000 genomes	rs139073416
hgdp	rs139073416
ensembl	rs139073416
geneview	rs139073416
scholar	rs139073416
google	rs139073416
pharmgkb	rs139073416
gwascentral	rs139073416
openSNP	rs139073416
23andMe	rs139073416
SNPshot	rs139073416
SNPdbe	rs139073416
MSV3d	rs139073416
GWAS Ctlg	rs139073416

Max Magnitude

0

ClinVar
Risk	rs139073416(A;A) rs139073416(T;T)
Alt	rs139073416(A;A) rs139073416(T;T)
Reference	Rs139073416(C;C)
Significance	Pathogenic
Disease	Hyperphosphatasia with mental retardation syndrome 1 Inborn genetic diseases not provided
Variation	info
Gene	PIGV
CLNDBN	Hyperphosphatasia with mental retardation syndrome 1 Inborn genetic diseases not provided
Reversed	0
HGVS	NC_000001.10:g.27121547C>A; NC_000001.10:g.27121547C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001347.3, RCV000190698.1, RCV000396582.1, RCV000001350.2,