rs727502775

Orientation

minus

Stabilized

minus

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

Make rs727502775(-;TACTCTGTGA)

Make rs727502775(TACTCTGTGA;TACTCTGTGA)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

35658030

Gene	CCDC107, RMRP

is a	snp
is	mentioned by
dbSNP	rs727502775
dbSNP (classic)	rs727502775
ClinGen	rs727502775
ebi	rs727502775
HLI	rs727502775
Exac	rs727502775
Gnomad	rs727502775
Varsome	rs727502775
LitVar	rs727502775
Map	rs727502775
PheGenI	rs727502775
Biobank	rs727502775
1000 genomes	rs727502775
hgdp	rs727502775
ensembl	rs727502775
geneview	rs727502775
scholar	rs727502775
google	rs727502775
pharmgkb	rs727502775
gwascentral	rs727502775
openSNP	rs727502775
23andMe	rs727502775
SNPshot	rs727502775
SNPdbe	rs727502775
MSV3d	rs727502775
GWAS Ctlg	rs727502775

Max Magnitude

0

ClinVar
Risk	rs727502775(TACTCTGTGA;TACTCTGTGA) rs727502775(TCTGTGA;TCTGTGA)
Alt	rs727502775(TACTCTGTGA;TACTCTGTGA) rs727502775(TCTGTGA;TCTGTGA)
Reference	Rs727502775(-;-)
Significance	Pathogenic
Disease	not provided Metaphyseal chondrodysplasia
Variation	info
Gene	CCDC107 RMRP
CLNDBN	not provided Metaphyseal chondrodysplasia, McKusick type
Reversed	1
HGVS	NC_000009.11:g.35658028_35658034dupTCACAGA; NC_000009.11:g.35658028_35658037dupTCACAGAGTA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000394476.1, RCV000015278.27,