rs200990647

Orientation

plus

Stabilized

plus

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

Make rs200990647(A;T)

Make rs200990647(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

46755970

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs200990647
dbSNP (classic)	rs200990647
ClinGen	rs200990647
ebi	rs200990647
HLI	rs200990647
Exac	rs200990647
Gnomad	rs200990647
Varsome	rs200990647
LitVar	rs200990647
Map	rs200990647
PheGenI	rs200990647
Biobank	rs200990647
1000 genomes	rs200990647
hgdp	rs200990647
ensembl	rs200990647
geneview	rs200990647
scholar	rs200990647
google	rs200990647
pharmgkb	rs200990647
gwascentral	rs200990647
openSNP	rs200990647
23andMe	rs200990647
SNPshot	rs200990647
SNPdbe	rs200990647
MSV3d	rs200990647
GWAS Ctlg	rs200990647

Max Magnitude

0

minor allele should be reclassified as benign according to [PMID 26990548]

ClinVar
Risk	rs200990647(T;T)
Alt	rs200990647(T;T)
Reference	Rs200990647(A;A)
Significance	Other
Disease	not specified Walker-Warburg congenital muscular dystrophy
Variation	info
Gene	FKRP
CLNDBN	not specified Walker-Warburg congenital muscular dystrophy
Reversed	0
HGVS	NC_000019.9:g.47259227A>T
CLNSRC	HGMD
CLNACC	RCV000173034.4, RCV000234733.2,