rs121918162

Orientation

plus

Stabilized

plus

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

Make rs121918162(A;A)

Make rs121918162(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

30998749

Gene

RNF135

is a	snp
is	mentioned by
dbSNP	rs121918162
dbSNP (classic)	rs121918162
ClinGen	rs121918162
ebi	rs121918162
HLI	rs121918162
Exac	rs121918162
Gnomad	rs121918162
Varsome	rs121918162
LitVar	rs121918162
Map	rs121918162
PheGenI	rs121918162
Biobank	rs121918162
1000 genomes	rs121918162
hgdp	rs121918162
ensembl	rs121918162
geneview	rs121918162
scholar	rs121918162
google	rs121918162
pharmgkb	rs121918162
gwascentral	rs121918162
openSNP	rs121918162
23andMe	rs121918162
23andMe all	rs121918162
SNPshot	rs121918162
SNPdbe	rs121918162
MSV3d	rs121918162
GWAS Ctlg	rs121918162

Max Magnitude

0

OMIM	611358
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918162(A;A)
Alt	rs121918162(A;A)
Reference	Rs121918162(G;G)
Significance	Pathogenic
Disease	Macrocephaly
Variation	info
Gene	RNF135
CLNDBN	Macrocephaly, macrosomia, facial dysmorphism syndrome
Reversed	0
HGVS	NC_000017.10:g.29325767G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001029.3,