rs387906533

Orientation

minus

Stabilized

minus

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

Make rs387906533(AG;GC)

Make rs387906533(GC;GC)

Reference

GRCh38 38.1/141

Chromosome

9

Position

35657927

Gene	CCDC107, RMRP

is a	snp
is	mentioned by
dbSNP	rs387906533
dbSNP (classic)	rs387906533
ClinGen	rs387906533
ebi	rs387906533
HLI	rs387906533
Exac	rs387906533
Gnomad	rs387906533
Varsome	rs387906533
LitVar	rs387906533
Map	rs387906533
PheGenI	rs387906533
Biobank	rs387906533
1000 genomes	rs387906533
hgdp	rs387906533
ensembl	rs387906533
geneview	rs387906533
scholar	rs387906533
google	rs387906533
pharmgkb	rs387906533
gwascentral	rs387906533
openSNP	rs387906533
23andMe	rs387906533
SNPshot	rs387906533
SNPdbe	rs387906533
MSV3d	rs387906533
GWAS Ctlg	rs387906533

Max Magnitude

0

ClinVar
Risk	rs387906533(GC;GC)
Alt	rs387906533(GC;GC)
Reference	Rs387906533(AG;AG)
Significance	Pathogenic
Disease	Anauxetic dysplasia 1
Variation	info
Gene	CCDC107 RMRP
CLNDBN	Anauxetic dysplasia 1
Reversed	1
HGVS	NC_000009.11:g.35657924_35657925delCTinsGC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015295.28,