rs1064797100

Orientation

plus

Stabilized

plus

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

Chromosome

17

Position

60656831

Gene

PPM1D

is a	snp
is	mentioned by
dbSNP	rs1064797100
dbSNP (classic)	rs1064797100
ClinGen	rs1064797100
ebi	rs1064797100
HLI	rs1064797100
Exac	rs1064797100
Gnomad	rs1064797100
Varsome	rs1064797100
LitVar	rs1064797100
Map	rs1064797100
PheGenI	rs1064797100
Biobank	rs1064797100
1000 genomes	rs1064797100
hgdp	rs1064797100
ensembl	rs1064797100
geneview	rs1064797100
scholar	rs1064797100
google	rs1064797100
pharmgkb	rs1064797100
gwascentral	rs1064797100
openSNP	rs1064797100
23andMe	rs1064797100
SNPshot	rs1064797100
SNPdbe	rs1064797100
MSV3d	rs1064797100
GWAS Ctlg	rs1064797100

Max Magnitude

0

ClinVar
Risk	rs1064797100(C;C)
Alt	rs1064797100(C;C)
Reference	Rs1064797100(-;-)
Significance	Pathogenic
Disease	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Variation	info
Gene	PPM1D
CLNDBN	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Reversed	0
HGVS	NC_000017.10:g.58734192dup
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000488173.1,