rs543016186

Orientation

plus

Stabilized

plus

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

Make rs543016186(C;T)

Make rs543016186(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

11795125

Gene

MTHFR

is a	snp
is	mentioned by
dbSNP	rs543016186
dbSNP (classic)	rs543016186
ClinGen	rs543016186
ebi	rs543016186
HLI	rs543016186
Exac	rs543016186
Gnomad	rs543016186
Varsome	rs543016186
LitVar	rs543016186
Map	rs543016186
PheGenI	rs543016186
Biobank	rs543016186
1000 genomes	rs543016186
hgdp	rs543016186
ensembl	rs543016186
geneview	rs543016186
scholar	rs543016186
google	rs543016186
pharmgkb	rs543016186
gwascentral	rs543016186
openSNP	rs543016186
23andMe	rs543016186
SNPshot	rs543016186
SNPdbe	rs543016186
MSV3d	rs543016186
GWAS Ctlg	rs543016186

Max Magnitude

0

ClinVar
Risk	rs543016186(T;T)
Alt	rs543016186(T;T)
Reference	Rs543016186(C;C)
Significance	Pathogenic
Disease	Homocysteinemia due to MTHFR deficiency Neural tube defects
Variation	info
Gene	MTHFR
CLNDBN	Homocysteinemia due to MTHFR deficiency Neural tube defects, folate-sensitive
Reversed	0
HGVS	NC_000001.10:g.11855182C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000167606.1, RCV000407968.1,