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rs104894230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894230(C;C)
Make rs104894230(C;G)
ReferenceGRCh37 37.1/132
Chromosome11
Position534288
GeneHRAS, LRRC56
is asnp
is mentioned by
dbSNPrs104894230
dbSNP (classic)rs104894230
ClinGenrs104894230
ebirs104894230
HLIrs104894230
Exacrs104894230
Gnomadrs104894230
Varsomers104894230
LitVarrs104894230
Maprs104894230
PheGenIrs104894230
Biobankrs104894230
1000 genomesrs104894230
hgdprs104894230
ensemblrs104894230
geneviewrs104894230
scholarrs104894230
googlers104894230
pharmgkbrs104894230
gwascentralrs104894230
openSNPrs104894230
23andMers104894230
SNPshotrs104894230
SNPdbers104894230
MSV3drs104894230
GWAS Ctlgrs104894230
Max Magnitude0
OMIM190020
Desc
Variant0004
Relatedalso
OMIM190020
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104894230(A;A) rs104894230(C;C) rs104894230(T;T)
Alt rs104894230(A;A) rs104894230(C;C) rs104894230(T;T)
Reference Rs104894230(G;G)
Significance Pathogenic
Disease Malignant tumor of urinary bladder Costello syndrome Myopathy Epidermal nevus not provided Malignant melanoma Neoplasm of the thyroid gland Malignant melanoma of skin Adenoid cystic carcinoma Colorectal Neoplasms Malignant neoplasm of body of uterus Ovarian Serous Cystadenocarcinoma Oesophageal carcinoma Uterine Carcinosarcoma Transitional cell carcinoma of the bladder Adenocarcinoma of stomach Nasopharyngeal Neoplasms Papillary renal cell carcinoma Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Adenocarcinoma of prostate Squamous cell carcinoma of the skin Neoplasm of breast Acute myeloid leukemia Glioblastoma Uterine cervical neoplasms Myelodysplastic syndrome Multiple myeloma Adenocarcinoma of lung Pancreatic adenocarcinoma Costello syndrome Nevus sebaceous Rasopathy
Variation info
Gene HRAS
CLNDBN Malignant tumor of urinary bladder Costello syndrome Myopathy, congenital, with excess of muscle spindles Epidermal nevus not provided Malignant melanoma Neoplasm of the thyroid gland Malignant melanoma of skin Adenoid cystic carcinoma Colorectal Neoplasms Malignant neoplasm of body of uterus Ovarian Serous Cystadenocarcinoma Oesophageal carcinoma Uterine Carcinosarcoma Transitional cell carcinoma of the bladder Adenocarcinoma of stomach Nasopharyngeal Neoplasms Papillary renal cell carcinoma, sporadic Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Adenocarcinoma of prostate Squamous cell carcinoma of the skin Neoplasm of breast Acute myeloid leukemia Glioblastoma Uterine cervical neoplasms Myelodysplastic syndrome Multiple myeloma Adenocarcinoma of lung Pancreatic adenocarcinoma Costello syndrome, severe Nevus sebaceous Rasopathy
Reversed 1
HGVS NC_000011.9:g.534288C>A; NC_000011.9:g.534288C>G; NC_000011.9:g.534288C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013431.6, RCV000013432.27, RCV000013433.26, RCV000032850.6, RCV000157912.1, RCV000428111.1, RCV000438340.1, RCV000013437.24, RCV000207503.2, RCV000417508.1, RCV000418547.1, RCV000422263.1, RCV000423413.1, RCV000423622.1, RCV000423741.1, RCV000425511.1, RCV000425989.1, RCV000426130.1, RCV000428172.1, RCV000428375.1, RCV000430806.1, RCV000432956.1, RCV000433266.1, RCV000433587.1, RCV000435619.1, RCV000435805.1, RCV000436832.1, RCV000440663.1, RCV000441501.1, RCV000442448.1, RCV000444092.1, RCV000445090.1, RCV000445257.1, RCV000013446.26, RCV000029210.8, RCV000038460.2, RCV000149830.3, RCV000212496.2, RCV000429375.1,