rs397515428

Orientation

plus

Stabilized

plus

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

Make rs397515428(A;G)

Make rs397515428(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

42375537

Gene

MEGF8

is a	snp
is	mentioned by
dbSNP	rs397515428
dbSNP (classic)	rs397515428
ClinGen	rs397515428
ebi	rs397515428
HLI	rs397515428
Exac	rs397515428
Gnomad	rs397515428
Varsome	rs397515428
LitVar	rs397515428
Map	rs397515428
PheGenI	rs397515428
Biobank	rs397515428
1000 genomes	rs397515428
hgdp	rs397515428
ensembl	rs397515428
geneview	rs397515428
scholar	rs397515428
google	rs397515428
pharmgkb	rs397515428
gwascentral	rs397515428
openSNP	rs397515428
23andMe	rs397515428
SNPshot	rs397515428
SNPdbe	rs397515428
MSV3d	rs397515428
GWAS Ctlg	rs397515428

Max Magnitude

0

ClinVar
Risk	rs397515428(G;G)
Alt	rs397515428(G;G)
Reference	Rs397515428(A;A)
Significance	Pathogenic
Disease	Carpenter syndrome 2
Variation	info
Gene	MEGF8
CLNDBN	Carpenter syndrome 2
Reversed	0
HGVS	NC_000019.9:g.42879689A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033073.3,