rs879255280

Orientation

plus

Stabilized

plus

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

Make rs879255280(C;T)

Make rs879255280(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

7

Position

129206557

Gene

SMO

is a	snp
is	mentioned by
dbSNP	rs879255280
dbSNP (classic)	rs879255280
ClinGen	rs879255280
ebi	rs879255280
HLI	rs879255280
Exac	rs879255280
Gnomad	rs879255280
Varsome	rs879255280
LitVar	rs879255280
Map	rs879255280
PheGenI	rs879255280
Biobank	rs879255280
1000 genomes	rs879255280
hgdp	rs879255280
ensembl	rs879255280
geneview	rs879255280
scholar	rs879255280
google	rs879255280
pharmgkb	rs879255280
gwascentral	rs879255280
openSNP	rs879255280
23andMe	rs879255280
SNPshot	rs879255280
SNPdbe	rs879255280
MSV3d	rs879255280
GWAS Ctlg	rs879255280

Max Magnitude

0

ClinVar
Risk	rs879255280(T;T)
Alt	rs879255280(T;T)
Reference	Rs879255280(C;C)
Significance	Pathogenic
Disease	Craniofacial malformations
Variation	info
Gene	SMO
CLNDBN	Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development
Reversed	0
HGVS	NC_000007.13:g.128846398C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000236033.2,