not to hijack the thread but I got analyzemygenes to work...in windows 10 the window IS TINY
now i have to look these up
SNP CHR MA MAF GT ETC
rs56367069 1 T 0.010 CT Mutation R294Q (1)
Clinsig is Benign
Genes ATP13A2
rs17508704 1 G 0.010 AG Genes RLF
rs7525922 1 C 0.010 CT Genes DPYD-AS1/DPYD
rs17012587 1 G 0.010 GT
rs2067481 1 A 0.010 AG Mutation V65I (3)
Genes CHRM3
rs17863762 2 A 0.010 AG Mutation C277Y (-2)
Genes UGT1A8
rs2232346 3 C 0.010 CT Mutation F262L (0)
Genes IL17RB
rs11714448 3 G 0.010 AG Genes SLC12A8
rs2583707 5 C 0.010 CT
rs17336381 5 T 0.010 CT
rs17774878 5 A 0.010 AG
rs11750201 5 G 0.010 AG
rs34500563 6 A 0.010 AG Genes LOC100506379/TMEM14B
rs13312995 6 A 0.010 AG Mutation R830W (-3)
Clinsig is other
Genes AHI1
rs17132152 7 A 0.010 AC Genes ABCA13
rs17132196 7 G 0.010 AG Genes ABCA13
rs17092911 7 T 0.010 CT Mutation S2154L (-2)
Genes ABCA13
rs17132201 7 G 0.010 AG Genes ABCA13
rs17132206 7 G 0.010 AG Mutation K117R (2)
Genes ABCA13
rs17132208 7 G 0.010 GT Mutation S218A (1)
Genes ABCA13
rs5956 7 A 0.010 AG Genes CD36
rs17476298 7 T 0.010 GT Genes CDK14
rs13222543 7 T 0.010 CT Genes ZCWPW1
rs8192868 7 A 0.010 AG Mutation E450K (1)
Genes TBXAS1
rs41341748 8 A 0.010 AG Mutation R311* (-4)
Clinsig is Pathogenic
Genes MSR1
rs11786893 8 T 0.002 CT Genes GGH
rs1476275 8 T 0.010 CT Genes LOC101927343/LOC100499183
rs13290184 9 T 0.010 GT
rs10978792 9 G 0.010 AG Genes RAD23B
rs17273828 9 A 0.010 AG Genes MRRF
rs11596047 10 A 0.010 AG
rs11101677 10 T 0.010 CT Mutation A809T (0)
Genes TUBGCP2
rs17262599 11 G 0.010 AG Genes GVINP1
rs11608105 11 T 0.010 CT Genes CADM1
rs1861484 12 G 0.010 GT Genes ETV6
rs17762729 12 T 0.010 CT Genes DERA
rs10492249 12 T 0.010 CT Genes SCAF11
rs3730071 12 A 0.010 AC Mutation A674S (1)
Genes ADCY6
SNP CHR MA MAF GT ETC
rs8192593 12 A 0.010 AG Genes NPFF
rs9599872 13 T 0.010 CT Genes DACH1
rs3116578 16 T 0.010 CT Genes IL4R
rs11646402 16 A 0.010 AG
rs12930280 16 C 0.010 AC Genes NUTF2
rs17886060 16 A 0.005 AG Mutation R611Q (1)
Genes FUK
rs11643870 16 A 0.005 AG Mutation V138M (1)
Genes WFDC1
rs4319810 17 G 0.010 AG Genes METTL16
rs3887424 17 C 0.010 CT
rs11663723 18 A 0.010 AG Genes L3MBTL4
rs3212931 19 T 0.010 GT Genes ERCC1
rs139740 22 A 0.010 AG Genes SGSM1
SNP = Single Nucleotide Polymorphism. This is a single allele on a chromosome.
CHR = Chromosome.
MA = Minor Allele. The less frequent of the two possible alleles for this SNP.
MAF = Minor Allele Frequency. This is given in decimal form, not percentage.
Percentage frequency = MAF x 100
Heterozygous rate = (1 - MAF) x MAF x 200
Homozygous minor rate = MAF x MAF x 100
Homozygous major rate = (1 - MAF) x (1 - MAF) x 100
GT = Genotype. Two alleles indicate the user's genotype.
ETC = Information from extra databases used, and flags for homozygous results.
Genes = the name of the gene(s) which the SNP is on, if any.
Homozygous = homozygous for the minor allele.
Renamed = alternative rs numbers for that SNP.
Mutation = Information for missense mutations and nonsense mutations.
These result in structural alterations of the protein created by the gene.
The name of the mutation consists of 1-4 digits between two letters.
The digits represent the position of the mutation on the created protein.
The first letter represents the more common amino acid created by that SNP.
The last letter represents the alternative amino acid created by that SNP.
The number in parantheses is the BLOSUM62 score, ranging from -4 to 4.
BLOSUM62 scores the difference between common and alterted amino acids.
-4 indicates the most extreme difference, and 4 indicates no difference.
BLOSUM62 scores are not definitive of pathogenic or benign status.
Example: "Mutation T96I (-1)"
Threonine (T) is the normal amino acid.
It is located at position 96 for the protein created by this gene.
Isoleucine (I) replaces it, which is only moderately different (-1).
Clinsig = Impact of the allele change, based on the available scientific research
"Pathogenic" can be disease-causing or just cause a significant change.
"Benign" is not disease-causing.
For more general information and research regarding these SNPs, see:
dbSNP:
http://www.ncbi.nlm.nih.gov/SNP/ - SNP data maintained by the NIH.
OMIM:
http://omim.org/ - Data for human genes and SNP genetic diseases.
Google Scholar:
https://scholar.google.com/ - Search engine for research articles.
i feel dumb, i must not be looking up these up the correct way
on geneticgenie have red for
VDR Bsm rs1544410 TT
MTHFR A1298C rs1801131 GG
MTRR A66G rs1801394 GG
and yellow for
COMT V158M rs4680 AG
COMT H62H rs4633 CT
MTR A2756G rs1805087 AG
CBS C699T rs234706 AG
HMT1 C1420T rs1979277 AG
a lot of them say not genotyped
UPDATE
I have two homozygous mutations...... but im reading that mthfr supplements are a scam to push supplements so I feel like I wasted half my day
