rs1057519646

Orientation

plus

Stabilized

plus

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

Make rs1057519646(A;A)

Make rs1057519646(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

2667011

Gene

SMCHD1

is a	snp
is	mentioned by
dbSNP	rs1057519646
dbSNP (classic)	rs1057519646
ClinGen	rs1057519646
ebi	rs1057519646
HLI	rs1057519646
Exac	rs1057519646
Gnomad	rs1057519646
Varsome	rs1057519646
LitVar	rs1057519646
Map	rs1057519646
PheGenI	rs1057519646
Biobank	rs1057519646
1000 genomes	rs1057519646
hgdp	rs1057519646
ensembl	rs1057519646
geneview	rs1057519646
scholar	rs1057519646
google	rs1057519646
pharmgkb	rs1057519646
gwascentral	rs1057519646
openSNP	rs1057519646
23andMe	rs1057519646
SNPshot	rs1057519646
SNPdbe	rs1057519646
MSV3d	rs1057519646
GWAS Ctlg	rs1057519646

Max Magnitude

0

ClinVar
Risk	rs1057519646(A;A) rs1057519646(T;T)
Alt	rs1057519646(A;A) rs1057519646(T;T)
Reference	Rs1057519646(G;G)
Significance	Pathogenic
Disease	Arhinia choanal atresia microphthalmia
Variation	info
Gene	SMCHD1
CLNDBN	Arhinia choanal atresia microphthalmia
Reversed	0
HGVS	NC_000018.9:g.2667010G>A; NC_000018.9:g.2667010G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000417284.1, RCV000417347.1,