rs724159977

Orientation

plus

Stabilized

plus

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

Make rs724159977(-;-)

Make rs724159977(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

30997304

Gene

RNF135

is a	snp
is	mentioned by
dbSNP	rs724159977
dbSNP (classic)	rs724159977
ClinGen	rs724159977
ebi	rs724159977
HLI	rs724159977
Exac	rs724159977
Gnomad	rs724159977
Varsome	rs724159977
LitVar	rs724159977
Map	rs724159977
PheGenI	rs724159977
Biobank	rs724159977
1000 genomes	rs724159977
hgdp	rs724159977
ensembl	rs724159977
geneview	rs724159977
scholar	rs724159977
google	rs724159977
pharmgkb	rs724159977
gwascentral	rs724159977
openSNP	rs724159977
23andMe	rs724159977
SNPshot	rs724159977
SNPdbe	rs724159977
MSV3d	rs724159977
GWAS Ctlg	rs724159977

Max Magnitude

0

ClinVar
Risk	rs724159977(-;-)
Alt	rs724159977(-;-)
Reference	Rs724159977(C;C)
Significance	Pathogenic
Disease	Macrocephaly
Variation	info
Gene	RNF135
CLNDBN	Macrocephaly, macrosomia, facial dysmorphism syndrome
Reversed	0
HGVS	NC_000017.10:g.29324322delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001027.3,