rs121918161

Orientation

plus

Stabilized

plus

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

Make rs121918161(C;T)

Make rs121918161(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

30997289

Gene

RNF135

is a	snp
is	mentioned by
dbSNP	rs121918161
dbSNP (classic)	rs121918161
ClinGen	rs121918161
ebi	rs121918161
HLI	rs121918161
Exac	rs121918161
Gnomad	rs121918161
Varsome	rs121918161
LitVar	rs121918161
Map	rs121918161
PheGenI	rs121918161
Biobank	rs121918161
1000 genomes	rs121918161
hgdp	rs121918161
ensembl	rs121918161
geneview	rs121918161
scholar	rs121918161
google	rs121918161
pharmgkb	rs121918161
gwascentral	rs121918161
openSNP	rs121918161
23andMe	rs121918161
SNPshot	rs121918161
SNPdbe	rs121918161
MSV3d	rs121918161
GWAS Ctlg	rs121918161

Max Magnitude

0

OMIM	611358
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918161(T;T)
Alt	rs121918161(T;T)
Reference	Rs121918161(C;C)
Significance	Pathogenic
Disease	Macrocephaly
Variation	info
Gene	RNF135
CLNDBN	Macrocephaly, macrosomia, facial dysmorphism syndrome
Reversed	0
HGVS	NC_000017.10:g.29324307C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001026.3,