rs75075748

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in complete genomics

Make rs75075748(C;C)

Make rs75075748(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

43118381

Gene

RET

is a	snp
is	mentioned by
dbSNP	rs75075748
dbSNP (classic)	rs75075748
ClinGen	rs75075748
ebi	rs75075748
HLI	rs75075748
Exac	rs75075748
Gnomad	rs75075748
Varsome	rs75075748
LitVar	rs75075748
Map	rs75075748
PheGenI	rs75075748
Biobank	rs75075748
1000 genomes	rs75075748
hgdp	rs75075748
ensembl	rs75075748
geneview	rs75075748
scholar	rs75075748
google	rs75075748
pharmgkb	rs75075748
gwascentral	rs75075748
openSNP	rs75075748
23andMe	rs75075748
SNPshot	rs75075748
SNPdbe	rs75075748
MSV3d	rs75075748
GWAS Ctlg	rs75075748

Max Magnitude

0

OMIM	164761
Desc
Variant	0015
Related	also

ClinVar
Risk	rs75075748(C;C)
Alt	rs75075748(C;C)
Reference	Rs75075748(T;T)
Significance	Other
Disease	Hirschsprung disease 1
Variation	info
Gene	RET
CLNDBN	Hirschsprung disease 1
Reversed	0
HGVS	NC_000010.10:g.43613829T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014921.2,