rs104894229

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	7	Costello syndrome
(G;G)	0	common in clinvar

Make rs104894229(A;A)

Reference

GRCh37 37.1/132

Chromosome

11

Position

534289

Gene	HRAS, LRRC56

is a	snp
is	mentioned by
dbSNP	rs104894229
dbSNP (classic)	rs104894229
ClinGen	rs104894229
ebi	rs104894229
HLI	rs104894229
Exac	rs104894229
Gnomad	rs104894229
Varsome	rs104894229
LitVar	rs104894229
Map	rs104894229
PheGenI	rs104894229
Biobank	rs104894229
1000 genomes	rs104894229
hgdp	rs104894229
ensembl	rs104894229
geneview	rs104894229
scholar	rs104894229
google	rs104894229
pharmgkb	rs104894229
gwascentral	rs104894229
openSNP	rs104894229
23andMe	rs104894229
SNPshot	rs104894229
SNPdbe	rs104894229
MSV3d	rs104894229
GWAS Ctlg	rs104894229

Max Magnitude

7

aka c.34G>A (p.Gly12Ser)

OMIM	190020
Desc
Variant	0003
Related	also

OMIM	190020
Desc
Variant	0014
Related	also

ClinVar
Risk	rs104894229(A;A) rs104894229(C;C) rs104894229(T;T)
Alt	rs104894229(A;A) rs104894229(C;C) rs104894229(T;T)
Reference	Rs104894229(G;G)
Significance	Pathogenic
Disease	Costello syndrome Nevus sebaceous Epidermal nevus Rasopathy not provided Hepatocellular carcinoma Myelodysplastic syndrome Colorectal Neoplasms Squamous cell carcinoma of the skin Neoplasm of breast Acute myeloid leukemia Adenocarcinoma of lung Papillary renal cell carcinoma Adenocarcinoma of stomach Neoplasm of the thyroid gland Malignant melanoma of skin Ovarian Serous Cystadenocarcinoma Nasopharyngeal Neoplasms Glioblastoma Multiple myeloma Oesophageal carcinoma Uterine Carcinosarcoma Uterine cervical neoplasms Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Bladder carcinoma Adenocarcinoma of prostate Adenoid cystic carcinoma Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Myopathy Epidermal nevus with urothelial cancer NEVUS
Variation	info
Gene	HRAS
CLNDBN	Costello syndrome Nevus sebaceous Epidermal nevus Rasopathy not provided Hepatocellular carcinoma Myelodysplastic syndrome Colorectal Neoplasms Squamous cell carcinoma of the skin Neoplasm of breast Acute myeloid leukemia Adenocarcinoma of lung Papillary renal cell carcinoma, sporadic Adenocarcinoma of stomach Neoplasm of the thyroid gland Malignant melanoma of skin Ovarian Serous Cystadenocarcinoma Nasopharyngeal Neoplasms Glioblastoma Multiple myeloma Oesophageal carcinoma Uterine Carcinosarcoma Uterine cervical neoplasms Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Bladder carcinoma Adenocarcinoma of prostate Adenoid cystic carcinoma Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Myopathy, congenital, with excess of muscle spindles Epidermal nevus with urothelial cancer, somatic NEVUS, WOOLLY HAIR, SOMATIC
Reversed	1
HGVS	NC_000011.9:g.534289C>A; NC_000011.9:g.534289C>G; NC_000011.9:g.534289C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) HGMD
CLNACC	RCV000013447.28, RCV000029211.8, RCV000032851.8, RCV000149829.3, RCV000212495.1, RCV000418395.1, RCV000419553.1, RCV000421701.1, RCV000422023.1, RCV000424087.1, RCV000424380.1, RCV000426992.1, RCV000427213.1, RCV000428012.1, RCV000429096.1, RCV000429404.1, RCV000431602.1, RCV000431815.1, RCV000434677.1, RCV000436505.1, RCV000436802.1, RCV000437868.1, RCV000438707.1, RCV000438902.1, RCV000439243.1, RCV000440052.1, RCV000443678.1, RCV000443826.1, RCV000444512.1, RCV000445233.1, RCV000421560.1, RCV000431895.1, RCV000013435.32, RCV000013436.25, RCV000022796.6, RCV000029209.7, RCV000081295.3, RCV000149828.2, RCV000417494.1, RCV000419709.1, RCV000420366.1, RCV000422253.1, RCV000422656.1, RCV000423310.1, RCV000424896.1, RCV000425542.1, RCV000427772.1, RCV000430011.1, RCV000430608.1, RCV000430725.1, RCV000432342.1, RCV000432945.1, RCV000432984.1, RCV000433576.1, RCV000435163.1, RCV000438022.1, RCV000440237.1, RCV000440297.1, RCV000440863.1, RCV000440993.1, RCV000443940.1, RCV000445039.1, RCV000487471.1,