rs1057519644

Orientation

plus

Stabilized

plus

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

Make rs1057519644(A;A)

Make rs1057519644(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

2667017

Gene

SMCHD1

is a	snp
is	mentioned by
dbSNP	rs1057519644
dbSNP (classic)	rs1057519644
ClinGen	rs1057519644
ebi	rs1057519644
HLI	rs1057519644
Exac	rs1057519644
Gnomad	rs1057519644
Varsome	rs1057519644
LitVar	rs1057519644
Map	rs1057519644
PheGenI	rs1057519644
Biobank	rs1057519644
1000 genomes	rs1057519644
hgdp	rs1057519644
ensembl	rs1057519644
geneview	rs1057519644
scholar	rs1057519644
google	rs1057519644
pharmgkb	rs1057519644
gwascentral	rs1057519644
openSNP	rs1057519644
23andMe	rs1057519644
SNPshot	rs1057519644
SNPdbe	rs1057519644
MSV3d	rs1057519644
GWAS Ctlg	rs1057519644

Max Magnitude

0

ClinVar
Risk	rs1057519644(A;A)
Alt	rs1057519644(A;A)
Reference	Rs1057519644(G;G)
Significance	Pathogenic
Disease	Arhinia choanal atresia microphthalmia Facioscapulohumeral muscular dystrophy 2
Variation	info
Gene	SMCHD1
CLNDBN	Arhinia choanal atresia microphthalmia Facioscapulohumeral muscular dystrophy 2
Reversed	0
HGVS	NC_000018.9:g.2667016G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000417296.1, RCV000417337.1,