chr5:56815549:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr5:56,111,376-56,191,979 
hg38 chr5:56,815,549-56,896,152

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 ulcerative colitis NA GAD Detail
0.002 Crohn Disease NA GAD Detail
<0.001 Diabetes Mellitus, Insulin-Dependent NA BeFree Detail
<0.001 gonadal dysgenesis NA BeFree Detail
<0.001 Histiocytosis, Langerhans-Cell MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis. BeFree 25899310 Detail
0.003 Lung Neoplasms NA LHGDN Detail
<0.001 Lymphatic Metastasis NA BeFree Detail
<0.001 Malignant neoplasm of stomach A MAP3k1 SNP predicts survival of gastric cancer in a Chinese population. BeFree 24759887 Detail
0.002 Animal Mammary Neoplasms NA GAD Detail
<0.001 melanoma NA BeFree Detail
<0.001 Neoplasm Metastasis NA BeFree Detail
<0.001 Lobular carcinoma in situ of breast Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579... BeFree 24743323 Detail
<0.001 Non-infiltrating lobular carcinoma Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579... BeFree 24743323 Detail
<0.001 ovarian carcinoma NA BeFree Detail
0.003 Pancreatic Neoplasm NA LHGDN Detail
0.003 Prostatic Neoplasms NA LHGDN Detail
<0.001 Turner syndrome NA BeFree Detail
<0.001 cataract The 45 SNPs associated with cataract at p<1×10(-5) are in several interesting ge... BeFree 25352737 Detail
0.001 pancreatic carcinoma NA BeFree Detail
<0.001 Malignant neoplasm of lung NA BeFree Detail
<0.001 Lobular carcinoma in situ of breast NA BeFree Detail
<0.001 Adenocarcinoma of pancreas NA BeFree Detail
<0.001 Non-infiltrating lobular carcinoma NA BeFree Detail
<0.001 Autosomal dominant retinitis pigmentosa NA BeFree Detail
0.001 Malignant neoplasm of pancreas NA BeFree Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
<0.001 46, XY female NA BeFree Detail
<0.001 endometrial carcinoma NA BeFree Detail
<0.001 Bilateral cataracts (disorder) The 45 SNPs associated with cataract at p<1×10(-5) are in several interesting ge... BeFree 25352737 Detail
<0.001 Leukemogenesis NA BeFree Detail
<0.001 prostate carcinoma NA BeFree Detail
<0.001 Carcinoma of lung NA BeFree Detail
<0.001 stomach carcinoma A MAP3k1 SNP predicts survival of gastric cancer in a Chinese population. BeFree 24759887 Detail
<0.001 early pregnancy NA BeFree Detail
0.003 ovarian neoplasm NA LHGDN Detail
<0.001 Malignant neoplasm of ovary NA BeFree Detail
0.131 Mammary Neoplasms NA CTD_human,GAD,LHGDN Detail
<0.001 uterine corpus cancer NA BeFree Detail
<0.001 liver carcinoma NA BeFree Detail
<0.001 46, XY Disorders of Sex Development NA BeFree Detail
0.120 Swyer Syndrome NA ORPHANET Detail
0.006 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.166 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.006 breast carcinoma Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.166 Malignant neoplasm of breast Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.005 rheumatoid arthritis NA GAD Detail
<0.001 Malignant neoplasm of endometrium NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A MAP3k1 SNP predicts survival of gastric cancer in a Chinese population. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het ... DisGeNET Detail
Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The 45 SNPs associated with cataract at p<1×10(-5) are in several interesting genes, including ALDOB... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The 45 SNPs associated with cataract at p<1×10(-5) are in several interesting genes, including ALDOB... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A MAP3k1 SNP predicts survival of gastric cancer in a Chinese population. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1752911 dbSNP
Genome
hg38
Position
chr5:56,815,549-56,896,152
Variant Type
snv
Genome browser