rs1057519642

Orientation

plus

Stabilized

plus

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

Make rs1057519642(A;T)

Make rs1057519642(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

2697898

Gene

SMCHD1

is a	snp
is	mentioned by
dbSNP	rs1057519642
dbSNP (classic)	rs1057519642
ClinGen	rs1057519642
ebi	rs1057519642
HLI	rs1057519642
Exac	rs1057519642
Gnomad	rs1057519642
Varsome	rs1057519642
LitVar	rs1057519642
Map	rs1057519642
PheGenI	rs1057519642
Biobank	rs1057519642
1000 genomes	rs1057519642
hgdp	rs1057519642
ensembl	rs1057519642
geneview	rs1057519642
scholar	rs1057519642
google	rs1057519642
pharmgkb	rs1057519642
gwascentral	rs1057519642
openSNP	rs1057519642
23andMe	rs1057519642
SNPshot	rs1057519642
SNPdbe	rs1057519642
MSV3d	rs1057519642
GWAS Ctlg	rs1057519642

Max Magnitude

0

ClinVar
Risk	rs1057519642(T;T)
Alt	rs1057519642(T;T)
Reference	Rs1057519642(A;A)
Significance	Pathogenic
Disease	Arhinia choanal atresia microphthalmia
Variation	info
Gene	SMCHD1
CLNDBN	Arhinia choanal atresia microphthalmia
Reversed	0
HGVS	NC_000018.9:g.2697896A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000417324.1,